SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37051839_37051848del | CA2695204432 | NIPBL | c.7015_7024del (p.Asp2339LeufsTer4) n.897_906del c.1-12739_1-12730del (n.1-12739_1-12730del) c.6271_6280del (p.Asp2091LeufsTer4) c.6817_6826del (p.Asp2273LeufsTer4) c.6634_6643del (p.Asp2212LeufsTer4) c.6355_6364del (p.Asp2119LeufsTer4) c.5398_5407del (p.Asp1800LeufsTer4) c.5389_5398del (p.Asp1797LeufsTer4) | |
| 5 | g.37051841T>A | CA359510524 | NIPBL | c.7017T>A (p.Asp2339Glu) n.899T>A c.1-12737T>A (n.1-12737T>A) c.6273T>A (p.Asp2091Glu) c.6819T>A (p.Asp2273Glu) c.6636T>A (p.Asp2212Glu) c.6357T>A (p.Asp2119Glu) c.5400T>A (p.Asp1800Glu) c.5391T>A (p.Asp1797Glu) | |
| 5 | g.37051841T>C | CA443910065 | NIPBL | c.7017T>C (p.Asp2339=) n.899T>C c.1-12737T>C (n.1-12737T>C) c.6273T>C (p.Asp2091=) c.6819T>C (p.Asp2273=) c.6636T>C (p.Asp2212=) c.6357T>C (p.Asp2119=) c.5400T>C (p.Asp1800=) c.5391T>C (p.Asp1797=) | gnomAD v4 |
| 5 | g.37051841T>G | CA359510527 | NIPBL | c.7017T>G (p.Asp2339Glu) n.899T>G c.1-12737T>G (n.1-12737T>G) c.6273T>G (p.Asp2091Glu) c.6819T>G (p.Asp2273Glu) c.6636T>G (p.Asp2212Glu) c.6357T>G (p.Asp2119Glu) c.5400T>G (p.Asp1800Glu) c.5391T>G (p.Asp1797Glu) | |
| 5 | g.37051842C>A | CA359510542 | NIPBL | c.7018C>A (p.Gln2340Lys) n.900C>A c.1-12736C>A (n.1-12736C>A) c.6274C>A (p.Gln2092Lys) c.6820C>A (p.Gln2274Lys) c.6637C>A (p.Gln2213Lys) c.6358C>A (p.Gln2120Lys) c.5401C>A (p.Gln1801Lys) c.5392C>A (p.Gln1798Lys) | |
| 5 | g.37051842C>G | CA359510536 | NIPBL | c.7018C>G (p.Gln2340Glu) n.900C>G c.1-12736C>G (n.1-12736C>G) c.6274C>G (p.Gln2092Glu) c.6820C>G (p.Gln2274Glu) c.6637C>G (p.Gln2213Glu) c.6358C>G (p.Gln2120Glu) c.5401C>G (p.Gln1801Glu) c.5392C>G (p.Gln1798Glu) | |
| 5 | g.37051842C>T | CA359510538 | NIPBL | c.7018C>T (p.Gln2340Ter) n.900C>T c.1-12736C>T (n.1-12736C>T) c.6274C>T (p.Gln2092Ter) c.6820C>T (p.Gln2274Ter) c.6637C>T (p.Gln2213Ter) c.6358C>T (p.Gln2120Ter) c.5401C>T (p.Gln1801Ter) c.5392C>T (p.Gln1798Ter) | COSMIC COSMIC |
| 5 | g.37051843A= | CA1539571436 | NIPBL | c.7019A= (p.Gln2340=) n.901A= c.1-12735A= (n.1-12735A=) c.6275A= (p.Gln2092=) c.6821A= (p.Gln2274=) c.6638A= (p.Gln2213=) c.6359A= (p.Gln2120=) c.5402A= (p.Gln1801=) c.5393A= (p.Gln1798=) | |
| 5 | g.37051843A>C | CA359510546 | NIPBL | c.7019A>C (p.Gln2340Pro) n.901A>C c.1-12735A>C (n.1-12735A>C) c.6275A>C (p.Gln2092Pro) c.6821A>C (p.Gln2274Pro) c.6638A>C (p.Gln2213Pro) c.6359A>C (p.Gln2120Pro) c.5402A>C (p.Gln1801Pro) c.5393A>C (p.Gln1798Pro) | |
| 5 | g.37051843A>G | CA359510550 | NIPBL | c.7019A>G (p.Gln2340Arg) n.901A>G c.1-12735A>G (n.1-12735A>G) c.6275A>G (p.Gln2092Arg) c.6821A>G (p.Gln2274Arg) c.6638A>G (p.Gln2213Arg) c.6359A>G (p.Gln2120Arg) c.5402A>G (p.Gln1801Arg) c.5393A>G (p.Gln1798Arg) | |
| 5 | g.37051843A>T | CA3237114 | NIPBL | c.7019A>T (p.Gln2340Leu) n.901A>T c.1-12735A>T (n.1-12735A>T) c.6275A>T (p.Gln2092Leu) c.6821A>T (p.Gln2274Leu) c.6638A>T (p.Gln2213Leu) c.6359A>T (p.Gln2120Leu) c.5402A>T (p.Gln1801Leu) c.5393A>T (p.Gln1798Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051844G>A | CA443910077 | NIPBL | c.7020G>A (p.Gln2340=) n.902G>A c.1-12734G>A (n.1-12734G>A) c.6276G>A (p.Gln2092=) c.6822G>A (p.Gln2274=) c.6639G>A (p.Gln2213=) c.6360G>A (p.Gln2120=) c.5403G>A (p.Gln1801=) c.5394G>A (p.Gln1798=) | |
| 5 | g.37051844G>C | CA359510561 | NIPBL | c.7020G>C (p.Gln2340His) n.902G>C c.1-12734G>C (n.1-12734G>C) c.6276G>C (p.Gln2092His) c.6822G>C (p.Gln2274His) c.6639G>C (p.Gln2213His) c.6360G>C (p.Gln2120His) c.5403G>C (p.Gln1801His) c.5394G>C (p.Gln1798His) | |
| 5 | g.37051844G>T | CA359510564 | NIPBL | c.7020G>T (p.Gln2340His) n.902G>T c.1-12734G>T (n.1-12734G>T) c.6276G>T (p.Gln2092His) c.6822G>T (p.Gln2274His) c.6639G>T (p.Gln2213His) c.6360G>T (p.Gln2120His) c.5403G>T (p.Gln1801His) c.5394G>T (p.Gln1798His) | |
| 5 | g.37051845C>A | CA359510570 | NIPBL | c.7021C>A (p.Gln2341Lys) n.903C>A c.1-12733C>A (n.1-12733C>A) c.6277C>A (p.Gln2093Lys) c.6823C>A (p.Gln2275Lys) c.6640C>A (p.Gln2214Lys) c.6361C>A (p.Gln2121Lys) c.5404C>A (p.Gln1802Lys) c.5395C>A (p.Gln1799Lys) | gnomAD v4 |
| 5 | g.37051845C>G | CA359510572 | NIPBL | c.7021C>G (p.Gln2341Glu) n.903C>G c.1-12733C>G (n.1-12733C>G) c.6277C>G (p.Gln2093Glu) c.6823C>G (p.Gln2275Glu) c.6640C>G (p.Gln2214Glu) c.6361C>G (p.Gln2121Glu) c.5404C>G (p.Gln1802Glu) c.5395C>G (p.Gln1799Glu) | |
| 5 | g.37051845C>T | CA359510606 | NIPBL | c.7021C>T (p.Gln2341Ter) n.903C>T c.1-12733C>T (n.1-12733C>T) c.6277C>T (p.Gln2093Ter) c.6823C>T (p.Gln2275Ter) c.6640C>T (p.Gln2214Ter) c.6361C>T (p.Gln2121Ter) c.5404C>T (p.Gln1802Ter) c.5395C>T (p.Gln1799Ter) | |
| 5 | g.37051846A>C | CA359510608 | NIPBL | c.7022A>C (p.Gln2341Pro) n.904A>C c.1-12732A>C (n.1-12732A>C) c.6278A>C (p.Gln2093Pro) c.6824A>C (p.Gln2275Pro) c.6641A>C (p.Gln2214Pro) c.6362A>C (p.Gln2121Pro) c.5405A>C (p.Gln1802Pro) c.5396A>C (p.Gln1799Pro) | |
| 5 | g.37051846A>G | CA359510611 | NIPBL | c.7022A>G (p.Gln2341Arg) n.904A>G c.1-12732A>G (n.1-12732A>G) c.6278A>G (p.Gln2093Arg) c.6824A>G (p.Gln2275Arg) c.6641A>G (p.Gln2214Arg) c.6362A>G (p.Gln2121Arg) c.5405A>G (p.Gln1802Arg) c.5396A>G (p.Gln1799Arg) | |
| 5 | g.37051846A>T | CA359510617 | NIPBL | c.7022A>T (p.Gln2341Leu) n.904A>T c.1-12732A>T (n.1-12732A>T) c.6278A>T (p.Gln2093Leu) c.6824A>T (p.Gln2275Leu) c.6641A>T (p.Gln2214Leu) c.6362A>T (p.Gln2121Leu) c.5405A>T (p.Gln1802Leu) c.5396A>T (p.Gln1799Leu) | |
| 5 | g.37051847A= | CA1539571442 | NIPBL | c.7023A= (p.Gln2341=) n.905A= c.1-12731A= (n.1-12731A=) c.6279A= (p.Gln2093=) c.6825A= (p.Gln2275=) c.6642A= (p.Gln2214=) c.6363A= (p.Gln2121=) c.5406A= (p.Gln1802=) c.5397A= (p.Gln1799=) | |
| 5 | g.37051847A>C | CA359510624 | NIPBL | c.7023A>C (p.Gln2341His) n.905A>C c.1-12731A>C (n.1-12731A>C) c.6279A>C (p.Gln2093His) c.6825A>C (p.Gln2275His) c.6642A>C (p.Gln2214His) c.6363A>C (p.Gln2121His) c.5406A>C (p.Gln1802His) c.5397A>C (p.Gln1799His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051847A>G | CA3237115 | NIPBL | c.7023A>G (p.Gln2341=) n.905A>G c.1-12731A>G (n.1-12731A>G) c.6279A>G (p.Gln2093=) c.6825A>G (p.Gln2275=) c.6642A>G (p.Gln2214=) c.6363A>G (p.Gln2121=) c.5406A>G (p.Gln1802=) c.5397A>G (p.Gln1799=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051847A>T | CA359510620 | NIPBL | c.7023A>T (p.Gln2341His) n.905A>T c.1-12731A>T (n.1-12731A>T) c.6279A>T (p.Gln2093His) c.6825A>T (p.Gln2275His) c.6642A>T (p.Gln2214His) c.6363A>T (p.Gln2121His) c.5406A>T (p.Gln1802His) c.5397A>T (p.Gln1799His) | |
| 5 | g.37051848C>A | CA359510627 | NIPBL | c.7024C>A (p.Leu2342Ile) n.906C>A c.1-12730C>A (n.1-12730C>A) c.6280C>A (p.Leu2094Ile) c.6826C>A (p.Leu2276Ile) c.6643C>A (p.Leu2215Ile) c.6364C>A (p.Leu2122Ile) c.5407C>A (p.Leu1803Ile) c.5398C>A (p.Leu1800Ile) | |
| 5 | g.37051848C= | CA1539571446 | NIPBL | c.7024C= (p.Leu2342=) n.906C= c.1-12730C= (n.1-12730C=) c.6280C= (p.Leu2094=) c.6826C= (p.Leu2276=) c.6643C= (p.Leu2215=) c.6364C= (p.Leu2122=) c.5407C= (p.Leu1803=) c.5398C= (p.Leu1800=) | |
| 5 | g.37051848C>G | CA359510631 | NIPBL | c.7024C>G (p.Leu2342Val) n.906C>G c.1-12730C>G (n.1-12730C>G) c.6280C>G (p.Leu2094Val) c.6826C>G (p.Leu2276Val) c.6643C>G (p.Leu2215Val) c.6364C>G (p.Leu2122Val) c.5407C>G (p.Leu1803Val) c.5398C>G (p.Leu1800Val) | |
| 5 | g.37051848C>T | CA272281 | NIPBL | c.7024C>T (p.Leu2342Phe) n.906C>T c.1-12730C>T (n.1-12730C>T) c.6280C>T (p.Leu2094Phe) c.6826C>T (p.Leu2276Phe) c.6643C>T (p.Leu2215Phe) c.6364C>T (p.Leu2122Phe) c.5407C>T (p.Leu1803Phe) c.5398C>T (p.Leu1800Phe) | ClinVar dbSNP |
| 5 | g.37051849T>A | CA359510640 | NIPBL | c.7025T>A (p.Leu2342His) n.907T>A c.1-12729T>A (n.1-12729T>A) c.6281T>A (p.Leu2094His) c.6827T>A (p.Leu2276His) c.6644T>A (p.Leu2215His) c.6365T>A (p.Leu2122His) c.5408T>A (p.Leu1803His) c.5399T>A (p.Leu1800His) | |
| 5 | g.37051849T>C | CA359510642 | NIPBL | c.7025T>C (p.Leu2342Pro) n.907T>C c.1-12729T>C (n.1-12729T>C) c.6281T>C (p.Leu2094Pro) c.6827T>C (p.Leu2276Pro) c.6644T>C (p.Leu2215Pro) c.6365T>C (p.Leu2122Pro) c.5408T>C (p.Leu1803Pro) c.5399T>C (p.Leu1800Pro) | |
| 5 | g.37051849T>G | CA359510650 | NIPBL | c.7025T>G (p.Leu2342Arg) n.907T>G c.1-12729T>G (n.1-12729T>G) c.6281T>G (p.Leu2094Arg) c.6827T>G (p.Leu2276Arg) c.6644T>G (p.Leu2215Arg) c.6365T>G (p.Leu2122Arg) c.5408T>G (p.Leu1803Arg) c.5399T>G (p.Leu1800Arg) | |
| 5 | g.37051850T>A | CA443910106 | NIPBL | c.7026T>A (p.Leu2342=) n.908T>A c.1-12728T>A (n.1-12728T>A) c.6282T>A (p.Leu2094=) c.6828T>A (p.Leu2276=) c.6645T>A (p.Leu2215=) c.6366T>A (p.Leu2122=) c.5409T>A (p.Leu1803=) c.5400T>A (p.Leu1800=) | |
| 5 | g.37051850T>C | CA443910108 | NIPBL | c.7026T>C (p.Leu2342=) n.908T>C c.1-12728T>C (n.1-12728T>C) c.6282T>C (p.Leu2094=) c.6828T>C (p.Leu2276=) c.6645T>C (p.Leu2215=) c.6366T>C (p.Leu2122=) c.5409T>C (p.Leu1803=) c.5400T>C (p.Leu1800=) | |
| 5 | g.37051850T>G | CA443910110 | NIPBL | c.7026T>G (p.Leu2342=) n.908T>G c.1-12728T>G (n.1-12728T>G) c.6282T>G (p.Leu2094=) c.6828T>G (p.Leu2276=) c.6645T>G (p.Leu2215=) c.6366T>G (p.Leu2122=) c.5409T>G (p.Leu1803=) c.5400T>G (p.Leu1800=) | |
| 5 | g.37051851G>A | CA359510653 | NIPBL | c.7027G>A (p.Val2343Met) n.909G>A c.1-12727G>A (n.1-12727G>A) c.6283G>A (p.Val2095Met) c.6829G>A (p.Val2277Met) c.6646G>A (p.Val2216Met) c.6367G>A (p.Val2123Met) c.5410G>A (p.Val1804Met) c.5401G>A (p.Val1801Met) | |
| 5 | g.37051851G>C | CA359510656 | NIPBL | c.7027G>C (p.Val2343Leu) n.909G>C c.1-12727G>C (n.1-12727G>C) c.6283G>C (p.Val2095Leu) c.6829G>C (p.Val2277Leu) c.6646G>C (p.Val2216Leu) c.6367G>C (p.Val2123Leu) c.5410G>C (p.Val1804Leu) c.5401G>C (p.Val1801Leu) | dbSNP gnomAD v4 |
| 5 | g.37051851G= | CA1539571452 | NIPBL | c.7027G= (p.Val2343=) n.909G= c.1-12727G= (n.1-12727G=) c.6283G= (p.Val2095=) c.6829G= (p.Val2277=) c.6646G= (p.Val2216=) c.6367G= (p.Val2123=) c.5410G= (p.Val1804=) c.5401G= (p.Val1801=) | |
| 5 | g.37051851G>T | CA359510666 | NIPBL | c.7027G>T (p.Val2343Leu) n.909G>T c.1-12727G>T (n.1-12727G>T) c.6283G>T (p.Val2095Leu) c.6829G>T (p.Val2277Leu) c.6646G>T (p.Val2216Leu) c.6367G>T (p.Val2123Leu) c.5410G>T (p.Val1804Leu) c.5401G>T (p.Val1801Leu) | |
| 5 | g.37051852T>A | CA359510667 | NIPBL | c.7028T>A (p.Val2343Glu) n.910T>A c.1-12726T>A (n.1-12726T>A) c.6284T>A (p.Val2095Glu) c.6830T>A (p.Val2277Glu) c.6647T>A (p.Val2216Glu) c.6368T>A (p.Val2123Glu) c.5411T>A (p.Val1804Glu) c.5402T>A (p.Val1801Glu) | |
| 5 | g.37051852T>C | CA359510668 | NIPBL | c.7028T>C (p.Val2343Ala) n.910T>C c.1-12726T>C (n.1-12726T>C) c.6284T>C (p.Val2095Ala) c.6830T>C (p.Val2277Ala) c.6647T>C (p.Val2216Ala) c.6368T>C (p.Val2123Ala) c.5411T>C (p.Val1804Ala) c.5402T>C (p.Val1801Ala) | |
| 5 | g.37051852T>G | CA359510669 | NIPBL | c.7028T>G (p.Val2343Gly) n.910T>G c.1-12726T>G (n.1-12726T>G) c.6284T>G (p.Val2095Gly) c.6830T>G (p.Val2277Gly) c.6647T>G (p.Val2216Gly) c.6368T>G (p.Val2123Gly) c.5411T>G (p.Val1804Gly) c.5402T>G (p.Val1801Gly) | |
| 5 | g.37051853G>A | CA443910125 | NIPBL | c.7029G>A (p.Val2343=) n.911G>A c.1-12725G>A (n.1-12725G>A) c.6285G>A (p.Val2095=) c.6831G>A (p.Val2277=) c.6648G>A (p.Val2216=) c.6369G>A (p.Val2123=) c.5412G>A (p.Val1804=) c.5403G>A (p.Val1801=) | |
| 5 | g.37051853G>C | CA443910121 | NIPBL | c.7029G>C (p.Val2343=) n.911G>C c.1-12725G>C (n.1-12725G>C) c.6285G>C (p.Val2095=) c.6831G>C (p.Val2277=) c.6648G>C (p.Val2216=) c.6369G>C (p.Val2123=) c.5412G>C (p.Val1804=) c.5403G>C (p.Val1801=) | dbSNP |
| 5 | g.37051853G= | CA1539571457 | NIPBL | c.7029G= (p.Val2343=) n.911G= c.1-12725G= (n.1-12725G=) c.6285G= (p.Val2095=) c.6831G= (p.Val2277=) c.6648G= (p.Val2216=) c.6369G= (p.Val2123=) c.5412G= (p.Val1804=) c.5403G= (p.Val1801=) | |
| 5 | g.37051853G>T | CA443910123 | NIPBL | c.7029G>T (p.Val2343=) n.911G>T c.1-12725G>T (n.1-12725G>T) c.6285G>T (p.Val2095=) c.6831G>T (p.Val2277=) c.6648G>T (p.Val2216=) c.6369G>T (p.Val2123=) c.5412G>T (p.Val1804=) c.5403G>T (p.Val1801=) | |
| 5 | g.37051854G>A | CA359510673 | NIPBL | c.7030G>A (p.Glu2344Lys) n.912G>A c.1-12724G>A (n.1-12724G>A) c.6286G>A (p.Glu2096Lys) c.6832G>A (p.Glu2278Lys) c.6649G>A (p.Glu2217Lys) c.6370G>A (p.Glu2124Lys) c.5413G>A (p.Glu1805Lys) c.5404G>A (p.Glu1802Lys) | |
| 5 | g.37051854G>C | CA359510671 | NIPBL | c.7030G>C (p.Glu2344Gln) n.912G>C c.1-12724G>C (n.1-12724G>C) c.6286G>C (p.Glu2096Gln) c.6832G>C (p.Glu2278Gln) c.6649G>C (p.Glu2217Gln) c.6370G>C (p.Glu2124Gln) c.5413G>C (p.Glu1805Gln) c.5404G>C (p.Glu1802Gln) | |
| 5 | g.37051854G>T | CA359510670 | NIPBL | c.7030G>T (p.Glu2344Ter) n.912G>T c.1-12724G>T (n.1-12724G>T) c.6286G>T (p.Glu2096Ter) c.6832G>T (p.Glu2278Ter) c.6649G>T (p.Glu2217Ter) c.6370G>T (p.Glu2124Ter) c.5413G>T (p.Glu1805Ter) c.5404G>T (p.Glu1802Ter) | |
| 5 | g.37051855A>C | CA359510680 | NIPBL | c.7031A>C (p.Glu2344Ala) n.913A>C c.1-12723A>C (n.1-12723A>C) c.6287A>C (p.Glu2096Ala) c.6833A>C (p.Glu2278Ala) c.6650A>C (p.Glu2217Ala) c.6371A>C (p.Glu2124Ala) c.5414A>C (p.Glu1805Ala) c.5405A>C (p.Glu1802Ala) | |
| 5 | g.37051855A>G | CA359510682 | NIPBL | c.7031A>G (p.Glu2344Gly) n.913A>G c.1-12723A>G (n.1-12723A>G) c.6287A>G (p.Glu2096Gly) c.6833A>G (p.Glu2278Gly) c.6650A>G (p.Glu2217Gly) c.6371A>G (p.Glu2124Gly) c.5414A>G (p.Glu1805Gly) c.5405A>G (p.Glu1802Gly) | |
| 5 | g.37051855A>T | CA359510684 | NIPBL | c.7031A>T (p.Glu2344Val) n.913A>T c.1-12723A>T (n.1-12723A>T) c.6287A>T (p.Glu2096Val) c.6833A>T (p.Glu2278Val) c.6650A>T (p.Glu2217Val) c.6371A>T (p.Glu2124Val) c.5414A>T (p.Glu1805Val) c.5405A>T (p.Glu1802Val) | |
| 5 | g.37051856A>C | CA359510688 | NIPBL | c.7032A>C (p.Glu2344Asp) n.914A>C c.1-12722A>C (n.1-12722A>C) c.6288A>C (p.Glu2096Asp) c.6834A>C (p.Glu2278Asp) c.6651A>C (p.Glu2217Asp) c.6372A>C (p.Glu2124Asp) c.5415A>C (p.Glu1805Asp) c.5406A>C (p.Glu1802Asp) | |
| 5 | g.37051856A>G | CA443910139 | NIPBL | c.7032A>G (p.Glu2344=) n.914A>G c.1-12722A>G (n.1-12722A>G) c.6288A>G (p.Glu2096=) c.6834A>G (p.Glu2278=) c.6651A>G (p.Glu2217=) c.6372A>G (p.Glu2124=) c.5415A>G (p.Glu1805=) c.5406A>G (p.Glu1802=) | |
| 5 | g.37051856A>T | CA359510689 | NIPBL | c.7032A>T (p.Glu2344Asp) n.914A>T c.1-12722A>T (n.1-12722A>T) c.6288A>T (p.Glu2096Asp) c.6834A>T (p.Glu2278Asp) c.6651A>T (p.Glu2217Asp) c.6372A>T (p.Glu2124Asp) c.5415A>T (p.Glu1805Asp) c.5406A>T (p.Glu1802Asp) | |
| 5 | g.37051857A= | CA1539571461 | NIPBL | c.7033A= (p.Ile2345=) n.915A= c.1-12721A= (n.1-12721A=) c.6289A= (p.Ile2097=) c.6835A= (p.Ile2279=) c.6652A= (p.Ile2218=) c.6373A= (p.Ile2125=) c.5416A= (p.Ile1806=) c.5407A= (p.Ile1803=) | |
| 5 | g.37051857A>C | CA359510692 | NIPBL | c.7033A>C (p.Ile2345Leu) n.915A>C c.1-12721A>C (n.1-12721A>C) c.6289A>C (p.Ile2097Leu) c.6835A>C (p.Ile2279Leu) c.6652A>C (p.Ile2218Leu) c.6373A>C (p.Ile2125Leu) c.5416A>C (p.Ile1806Leu) c.5407A>C (p.Ile1803Leu) | |
| 5 | g.37051857A>G | CA359510695 | NIPBL | c.7033A>G (p.Ile2345Val) n.915A>G c.1-12721A>G (n.1-12721A>G) c.6289A>G (p.Ile2097Val) c.6835A>G (p.Ile2279Val) c.6652A>G (p.Ile2218Val) c.6373A>G (p.Ile2125Val) c.5416A>G (p.Ile1806Val) c.5407A>G (p.Ile1803Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37051857A>T | CA359510698 | NIPBL | c.7033A>T (p.Ile2345Leu) n.915A>T c.1-12721A>T (n.1-12721A>T) c.6289A>T (p.Ile2097Leu) c.6835A>T (p.Ile2279Leu) c.6652A>T (p.Ile2218Leu) c.6373A>T (p.Ile2125Leu) c.5416A>T (p.Ile1806Leu) c.5407A>T (p.Ile1803Leu) | |
| 5 | g.37051858T>A | CA359510707 | NIPBL | c.7034T>A (p.Ile2345Lys) n.916T>A c.1-12720T>A (n.1-12720T>A) c.6290T>A (p.Ile2097Lys) c.6836T>A (p.Ile2279Lys) c.6653T>A (p.Ile2218Lys) c.6374T>A (p.Ile2125Lys) c.5417T>A (p.Ile1806Lys) c.5408T>A (p.Ile1803Lys) | |
| 5 | g.37051858T>C | CA359510709 | NIPBL | c.7034T>C (p.Ile2345Thr) n.916T>C c.1-12720T>C (n.1-12720T>C) c.6290T>C (p.Ile2097Thr) c.6836T>C (p.Ile2279Thr) c.6653T>C (p.Ile2218Thr) c.6374T>C (p.Ile2125Thr) c.5417T>C (p.Ile1806Thr) c.5408T>C (p.Ile1803Thr) | |
| 5 | g.37051858T>G | CA359510720 | NIPBL | c.7034T>G (p.Ile2345Arg) n.916T>G c.1-12720T>G (n.1-12720T>G) c.6290T>G (p.Ile2097Arg) c.6836T>G (p.Ile2279Arg) c.6653T>G (p.Ile2218Arg) c.6374T>G (p.Ile2125Arg) c.5417T>G (p.Ile1806Arg) c.5408T>G (p.Ile1803Arg) | |
| 5 | g.37051859A>C | CA443910152 | NIPBL | c.7035A>C (p.Ile2345=) n.917A>C c.1-12719A>C (n.1-12719A>C) c.6291A>C (p.Ile2097=) c.6837A>C (p.Ile2279=) c.6654A>C (p.Ile2218=) c.6375A>C (p.Ile2125=) c.5418A>C (p.Ile1806=) c.5409A>C (p.Ile1803=) | |
| 5 | g.37051859A>G | CA359510723 | NIPBL | c.7035A>G (p.Ile2345Met) n.917A>G c.1-12719A>G (n.1-12719A>G) c.6291A>G (p.Ile2097Met) c.6837A>G (p.Ile2279Met) c.6654A>G (p.Ile2218Met) c.6375A>G (p.Ile2125Met) c.5418A>G (p.Ile1806Met) c.5409A>G (p.Ile1803Met) | |
| 5 | g.37051859A>T | CA443910155 | NIPBL | c.7035A>T (p.Ile2345=) n.917A>T c.1-12719A>T (n.1-12719A>T) c.6291A>T (p.Ile2097=) c.6837A>T (p.Ile2279=) c.6654A>T (p.Ile2218=) c.6375A>T (p.Ile2125=) c.5418A>T (p.Ile1806=) c.5409A>T (p.Ile1803=) | |
| 5 | g.37051860G>A | CA359510731 | NIPBL | c.7036G>A (p.Asp2346Asn) n.918G>A c.1-12718G>A (n.1-12718G>A) c.6292G>A (p.Asp2098Asn) c.6838G>A (p.Asp2280Asn) c.6655G>A (p.Asp2219Asn) c.6376G>A (p.Asp2126Asn) c.5419G>A (p.Asp1807Asn) c.5410G>A (p.Asp1804Asn) | |
| 5 | g.37051860G>C | CA3237116 | NIPBL | c.7036G>C (p.Asp2346His) n.918G>C c.1-12718G>C (n.1-12718G>C) c.6292G>C (p.Asp2098His) c.6838G>C (p.Asp2280His) c.6655G>C (p.Asp2219His) c.6376G>C (p.Asp2126His) c.5419G>C (p.Asp1807His) c.5410G>C (p.Asp1804His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37051860G= | CA1539571463 | NIPBL | c.7036G= (p.Asp2346=) n.918G= c.1-12718G= (n.1-12718G=) c.6292G= (p.Asp2098=) c.6838G= (p.Asp2280=) c.6655G= (p.Asp2219=) c.6376G= (p.Asp2126=) c.5419G= (p.Asp1807=) c.5410G= (p.Asp1804=) | |
| 5 | g.37051860G>T | CA359510730 | NIPBL | c.7036G>T (p.Asp2346Tyr) n.918G>T c.1-12718G>T (n.1-12718G>T) c.6292G>T (p.Asp2098Tyr) c.6838G>T (p.Asp2280Tyr) c.6655G>T (p.Asp2219Tyr) c.6376G>T (p.Asp2126Tyr) c.5419G>T (p.Asp1807Tyr) c.5410G>T (p.Asp1804Tyr) | |
| 5 | g.37051861A>C | CA359510732 | NIPBL | c.7037A>C (p.Asp2346Ala) n.919A>C c.1-12717A>C (n.1-12717A>C) c.6293A>C (p.Asp2098Ala) c.6839A>C (p.Asp2280Ala) c.6656A>C (p.Asp2219Ala) c.6377A>C (p.Asp2126Ala) c.5420A>C (p.Asp1807Ala) c.5411A>C (p.Asp1804Ala) | |
| 5 | g.37051861A>G | CA359510735 | NIPBL | c.7037A>G (p.Asp2346Gly) n.919A>G c.1-12717A>G (n.1-12717A>G) c.6293A>G (p.Asp2098Gly) c.6839A>G (p.Asp2280Gly) c.6656A>G (p.Asp2219Gly) c.6377A>G (p.Asp2126Gly) c.5420A>G (p.Asp1807Gly) c.5411A>G (p.Asp1804Gly) | |
| 5 | g.37051861A>T | CA359510733 | NIPBL | c.7037A>T (p.Asp2346Val) n.919A>T c.1-12717A>T (n.1-12717A>T) c.6293A>T (p.Asp2098Val) c.6839A>T (p.Asp2280Val) c.6656A>T (p.Asp2219Val) c.6377A>T (p.Asp2126Val) c.5420A>T (p.Asp1807Val) c.5411A>T (p.Asp1804Val) | |
| 5 | g.37051861_37051862insT | CA2765899864 | NIPBL | c.7037_7038insT (p.Lys2347GlnfsTer?) n.919_920insT c.1-12717_1-12716insT (n.1-12717_1-12716insT) c.6293_6294insT (p.Lys2099GlnfsTer?) c.6839_6840insT (p.Lys2281GlnfsTer?) c.6656_6657insT (p.Lys2220GlnfsTer?) c.6377_6378insT (p.Lys2127GlnfsTer?) c.5420_5421insT (p.Lys1808GlnfsTer?) c.5411_5412insT (p.Lys1805GlnfsTer?) | |
| 5 | g.37051862C>A | CA359510743 | NIPBL | c.7038C>A (p.Asp2346Glu) n.920C>A c.1-12716C>A (n.1-12716C>A) c.6294C>A (p.Asp2098Glu) c.6840C>A (p.Asp2280Glu) c.6657C>A (p.Asp2219Glu) c.6378C>A (p.Asp2126Glu) c.5421C>A (p.Asp1807Glu) c.5412C>A (p.Asp1804Glu) | |
| 5 | g.37051862C= | CA1539571467 | NIPBL | c.7038C= (p.Asp2346=) n.920C= c.1-12716C= (n.1-12716C=) c.6294C= (p.Asp2098=) c.6840C= (p.Asp2280=) c.6657C= (p.Asp2219=) c.6378C= (p.Asp2126=) c.5421C= (p.Asp1807=) c.5412C= (p.Asp1804=) | |
| 5 | g.37051862C>G | CA359510747 | NIPBL | c.7038C>G (p.Asp2346Glu) n.920C>G c.1-12716C>G (n.1-12716C>G) c.6294C>G (p.Asp2098Glu) c.6840C>G (p.Asp2280Glu) c.6657C>G (p.Asp2219Glu) c.6378C>G (p.Asp2126Glu) c.5421C>G (p.Asp1807Glu) c.5412C>G (p.Asp1804Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37051862C>T | CA3237117 | NIPBL | c.7038C>T (p.Asp2346=) n.920C>T c.1-12716C>T (n.1-12716C>T) c.6294C>T (p.Asp2098=) c.6840C>T (p.Asp2280=) c.6657C>T (p.Asp2219=) c.6378C>T (p.Asp2126=) c.5421C>T (p.Asp1807=) c.5412C>T (p.Asp1804=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37051863A= | CA1539571474 | NIPBL | c.7039A= (p.Lys2347=) n.921A= c.1-12715A= (n.1-12715A=) c.6295A= (p.Lys2099=) c.6841A= (p.Lys2281=) c.6658A= (p.Lys2220=) c.6379A= (p.Lys2127=) c.5422A= (p.Lys1808=) c.5413A= (p.Lys1805=) | |
| 5 | g.37051863A>C | CA359510749 | NIPBL | c.7039A>C (p.Lys2347Gln) n.921A>C c.1-12715A>C (n.1-12715A>C) c.6295A>C (p.Lys2099Gln) c.6841A>C (p.Lys2281Gln) c.6658A>C (p.Lys2220Gln) c.6379A>C (p.Lys2127Gln) c.5422A>C (p.Lys1808Gln) c.5413A>C (p.Lys1805Gln) | gnomAD v4 |
| 5 | g.37051863A>G | CA359510753 | NIPBL | c.7039A>G (p.Lys2347Glu) n.921A>G c.1-12715A>G (n.1-12715A>G) c.6295A>G (p.Lys2099Glu) c.6841A>G (p.Lys2281Glu) c.6658A>G (p.Lys2220Glu) c.6379A>G (p.Lys2127Glu) c.5422A>G (p.Lys1808Glu) c.5413A>G (p.Lys1805Glu) | dbSNP |
| 5 | g.37051863A>T | CA359510751 | NIPBL | c.7039A>T (p.Lys2347Ter) n.921A>T c.1-12715A>T (n.1-12715A>T) c.6295A>T (p.Lys2099Ter) c.6841A>T (p.Lys2281Ter) c.6658A>T (p.Lys2220Ter) c.6379A>T (p.Lys2127Ter) c.5422A>T (p.Lys1808Ter) c.5413A>T (p.Lys1805Ter) | |
| 5 | g.37051868dup | CA645548417 | NIPBL | c.7044dup (p.Tyr2349IlefsTer?) n.926dup c.1-12710dup (n.1-12710dup) c.6300dup (p.Tyr2101IlefsTer?) c.6846dup (p.Tyr2283IlefsTer?) c.6663dup (p.Tyr2222IlefsTer?) c.6384dup (p.Tyr2129IlefsTer?) c.5427dup (p.Tyr1810IlefsTer?) c.5418dup (p.Tyr1807IlefsTer?) | COSMIC COSMIC |
| 5 | g.37051864A>C | CA359510755 | NIPBL | c.7040A>C (p.Lys2347Thr) n.922A>C c.1-12714A>C (n.1-12714A>C) c.6296A>C (p.Lys2099Thr) c.6842A>C (p.Lys2281Thr) c.6659A>C (p.Lys2220Thr) c.6380A>C (p.Lys2127Thr) c.5423A>C (p.Lys1808Thr) c.5414A>C (p.Lys1805Thr) | |
| 5 | g.37051864A>G | CA359510756 | NIPBL | c.7040A>G (p.Lys2347Arg) n.922A>G c.1-12714A>G (n.1-12714A>G) c.6296A>G (p.Lys2099Arg) c.6842A>G (p.Lys2281Arg) c.6659A>G (p.Lys2220Arg) c.6380A>G (p.Lys2127Arg) c.5423A>G (p.Lys1808Arg) c.5414A>G (p.Lys1805Arg) | gnomAD v4 |
| 5 | g.37051864A>T | CA359510758 | NIPBL | c.7040A>T (p.Lys2347Ile) n.922A>T c.1-12714A>T (n.1-12714A>T) c.6296A>T (p.Lys2099Ile) c.6842A>T (p.Lys2281Ile) c.6659A>T (p.Lys2220Ile) c.6380A>T (p.Lys2127Ile) c.5423A>T (p.Lys1808Ile) c.5414A>T (p.Lys1805Ile) | |
| 5 | g.37051865A>C | CA359510760 | NIPBL | c.7041A>C (p.Lys2347Asn) n.923A>C c.1-12713A>C (n.1-12713A>C) c.6297A>C (p.Lys2099Asn) c.6843A>C (p.Lys2281Asn) c.6660A>C (p.Lys2220Asn) c.6381A>C (p.Lys2127Asn) c.5424A>C (p.Lys1808Asn) c.5415A>C (p.Lys1805Asn) | |
| 5 | g.37051865A>G | CA443910187 | NIPBL | c.7041A>G (p.Lys2347=) n.923A>G c.1-12713A>G (n.1-12713A>G) c.6297A>G (p.Lys2099=) c.6843A>G (p.Lys2281=) c.6660A>G (p.Lys2220=) c.6381A>G (p.Lys2127=) c.5424A>G (p.Lys1808=) c.5415A>G (p.Lys1805=) | |
| 5 | g.37051865A>T | CA359510762 | NIPBL | c.7041A>T (p.Lys2347Asn) n.923A>T c.1-12713A>T (n.1-12713A>T) c.6297A>T (p.Lys2099Asn) c.6843A>T (p.Lys2281Asn) c.6660A>T (p.Lys2220Asn) c.6381A>T (p.Lys2127Asn) c.5424A>T (p.Lys1808Asn) c.5415A>T (p.Lys1805Asn) | |
| 5 | g.37051866A>C | CA359510764 | NIPBL | c.7042A>C (p.Lys2348Gln) n.924A>C c.1-12712A>C (n.1-12712A>C) c.6298A>C (p.Lys2100Gln) c.6844A>C (p.Lys2282Gln) c.6661A>C (p.Lys2221Gln) c.6382A>C (p.Lys2128Gln) c.5425A>C (p.Lys1809Gln) c.5416A>C (p.Lys1806Gln) | |
| 5 | g.37051866A>G | CA359510765 | NIPBL | c.7042A>G (p.Lys2348Glu) n.924A>G c.1-12712A>G (n.1-12712A>G) c.6298A>G (p.Lys2100Glu) c.6844A>G (p.Lys2282Glu) c.6661A>G (p.Lys2221Glu) c.6382A>G (p.Lys2128Glu) c.5425A>G (p.Lys1809Glu) c.5416A>G (p.Lys1806Glu) | |
| 5 | g.37051866A>T | CA359510768 | NIPBL | c.7042A>T (p.Lys2348Ter) n.924A>T c.1-12712A>T (n.1-12712A>T) c.6298A>T (p.Lys2100Ter) c.6844A>T (p.Lys2282Ter) c.6661A>T (p.Lys2221Ter) c.6382A>T (p.Lys2128Ter) c.5425A>T (p.Lys1809Ter) c.5416A>T (p.Lys1806Ter) | |
| 5 | g.37051867A>C | CA359510772 | NIPBL | c.7043A>C (p.Lys2348Thr) n.925A>C c.1-12711A>C (n.1-12711A>C) c.6299A>C (p.Lys2100Thr) c.6845A>C (p.Lys2282Thr) c.6662A>C (p.Lys2221Thr) c.6383A>C (p.Lys2128Thr) c.5426A>C (p.Lys1809Thr) c.5417A>C (p.Lys1806Thr) | |
| 5 | g.37051867A>G | CA359510774 | NIPBL | c.7043A>G (p.Lys2348Arg) n.925A>G c.1-12711A>G (n.1-12711A>G) c.6299A>G (p.Lys2100Arg) c.6845A>G (p.Lys2282Arg) c.6662A>G (p.Lys2221Arg) c.6383A>G (p.Lys2128Arg) c.5426A>G (p.Lys1809Arg) c.5417A>G (p.Lys1806Arg) | |
| 5 | g.37051867A>T | CA359510776 | NIPBL | c.7043A>T (p.Lys2348Ile) n.925A>T c.1-12711A>T (n.1-12711A>T) c.6299A>T (p.Lys2100Ile) c.6845A>T (p.Lys2282Ile) c.6662A>T (p.Lys2221Ile) c.6383A>T (p.Lys2128Ile) c.5426A>T (p.Lys1809Ile) c.5417A>T (p.Lys1806Ile) | |
| 5 | g.37051868A>C | CA359510782 | NIPBL | c.7044A>C (p.Lys2348Asn) n.926A>C c.1-12710A>C (n.1-12710A>C) c.6300A>C (p.Lys2100Asn) c.6846A>C (p.Lys2282Asn) c.6663A>C (p.Lys2221Asn) c.6384A>C (p.Lys2128Asn) c.5427A>C (p.Lys1809Asn) c.5418A>C (p.Lys1806Asn) | |
| 5 | g.37051868A>G | CA443910202 | NIPBL | c.7044A>G (p.Lys2348=) n.926A>G c.1-12710A>G (n.1-12710A>G) c.6300A>G (p.Lys2100=) c.6846A>G (p.Lys2282=) c.6663A>G (p.Lys2221=) c.6384A>G (p.Lys2128=) c.5427A>G (p.Lys1809=) c.5418A>G (p.Lys1806=) | |
| 5 | g.37051868A>T | CA359510779 | NIPBL | c.7044A>T (p.Lys2348Asn) n.926A>T c.1-12710A>T (n.1-12710A>T) c.6300A>T (p.Lys2100Asn) c.6846A>T (p.Lys2282Asn) c.6663A>T (p.Lys2221Asn) c.6384A>T (p.Lys2128Asn) c.5427A>T (p.Lys1809Asn) c.5418A>T (p.Lys1806Asn) | |
| 5 | g.37051869T>A | CA359510783 | NIPBL | c.7045T>A (p.Tyr2349Asn) n.927T>A c.1-12709T>A (n.1-12709T>A) c.6301T>A (p.Tyr2101Asn) c.6847T>A (p.Tyr2283Asn) c.6664T>A (p.Tyr2222Asn) c.6385T>A (p.Tyr2129Asn) c.5428T>A (p.Tyr1810Asn) c.5419T>A (p.Tyr1807Asn) | |
| 5 | g.37051869T>C | CA359510784 | NIPBL | c.7045T>C (p.Tyr2349His) n.927T>C c.1-12709T>C (n.1-12709T>C) c.6301T>C (p.Tyr2101His) c.6847T>C (p.Tyr2283His) c.6664T>C (p.Tyr2222His) c.6385T>C (p.Tyr2129His) c.5428T>C (p.Tyr1810His) c.5419T>C (p.Tyr1807His) | |
| 5 | g.37051869T>G | CA359510786 | NIPBL | c.7045T>G (p.Tyr2349Asp) n.927T>G c.1-12709T>G (n.1-12709T>G) c.6301T>G (p.Tyr2101Asp) c.6847T>G (p.Tyr2283Asp) c.6664T>G (p.Tyr2222Asp) c.6385T>G (p.Tyr2129Asp) c.5428T>G (p.Tyr1810Asp) c.5419T>G (p.Tyr1807Asp) | |
| 5 | g.37051869_37051870insTACGAG | CA2560314661 | NIPBL | c.7045_7046insTACGAG (p.Tyr2349delinsLeuArgAsp) n.927_928insTACGAG c.1-12709_1-12708insTACGAG (n.1-12709_1-12708insTACGAG) c.6301_6302insTACGAG (p.Tyr2101delinsLeuArgAsp) c.6847_6848insTACGAG (p.Tyr2283delinsLeuArgAsp) c.6664_6665insTACGAG (p.Tyr2222delinsLeuArgAsp) c.6385_6386insTACGAG (p.Tyr2129delinsLeuArgAsp) c.5428_5429insTACGAG (p.Tyr1810delinsLeuArgAsp) c.5419_5420insTACGAG (p.Tyr1807delinsLeuArgAsp) | |
| 5 | g.37051870A>C | CA359510793 | NIPBL | c.7046A>C (p.Tyr2349Ser) n.928A>C c.1-12708A>C (n.1-12708A>C) c.6302A>C (p.Tyr2101Ser) c.6848A>C (p.Tyr2283Ser) c.6665A>C (p.Tyr2222Ser) c.6386A>C (p.Tyr2129Ser) c.5429A>C (p.Tyr1810Ser) c.5420A>C (p.Tyr1807Ser) | |
| 5 | g.37051870A>G | CA359510795 | NIPBL | c.7046A>G (p.Tyr2349Cys) n.928A>G c.1-12708A>G (n.1-12708A>G) c.6302A>G (p.Tyr2101Cys) c.6848A>G (p.Tyr2283Cys) c.6665A>G (p.Tyr2222Cys) c.6386A>G (p.Tyr2129Cys) c.5429A>G (p.Tyr1810Cys) c.5420A>G (p.Tyr1807Cys) | |
| 5 | g.37051870A>T | CA359510797 | NIPBL | c.7046A>T (p.Tyr2349Phe) n.928A>T c.1-12708A>T (n.1-12708A>T) c.6302A>T (p.Tyr2101Phe) c.6848A>T (p.Tyr2283Phe) c.6665A>T (p.Tyr2222Phe) c.6386A>T (p.Tyr2129Phe) c.5429A>T (p.Tyr1810Phe) c.5420A>T (p.Tyr1807Phe) | |
| 5 | g.37051871T>A | CA359510799 | NIPBL | c.7047T>A (p.Tyr2349Ter) n.929T>A c.1-12707T>A (n.1-12707T>A) c.6303T>A (p.Tyr2101Ter) c.6849T>A (p.Tyr2283Ter) c.6666T>A (p.Tyr2222Ter) c.6387T>A (p.Tyr2129Ter) c.5430T>A (p.Tyr1810Ter) c.5421T>A (p.Tyr1807Ter) | |
| 5 | g.37051871T>C | CA3237118 | NIPBL | c.7047T>C (p.Tyr2349=) n.929T>C c.1-12707T>C (n.1-12707T>C) c.6303T>C (p.Tyr2101=) c.6849T>C (p.Tyr2283=) c.6666T>C (p.Tyr2222=) c.6387T>C (p.Tyr2129=) c.5430T>C (p.Tyr1810=) c.5421T>C (p.Tyr1807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051871T>G | CA267219 | NIPBL | c.7047T>G (p.Tyr2349Ter) n.929T>G c.1-12707T>G (n.1-12707T>G) c.6303T>G (p.Tyr2101Ter) c.6849T>G (p.Tyr2283Ter) c.6666T>G (p.Tyr2222Ter) c.6387T>G (p.Tyr2129Ter) c.5430T>G (p.Tyr1810Ter) c.5421T>G (p.Tyr1807Ter) | ClinVar dbSNP |
| 5 | g.37051871T= | CA1539571478 | NIPBL | c.7047T= (p.Tyr2349=) n.929T= c.1-12707T= (n.1-12707T=) c.6303T= (p.Tyr2101=) c.6849T= (p.Tyr2283=) c.6666T= (p.Tyr2222=) c.6387T= (p.Tyr2129=) c.5430T= (p.Tyr1810=) c.5421T= (p.Tyr1807=) | |
| 5 | g.37051872G>A | CA359510803 | NIPBL | c.7048G>A (p.Ala2350Thr) n.930G>A c.1-12706G>A (n.1-12706G>A) c.6304G>A (p.Ala2102Thr) c.6850G>A (p.Ala2284Thr) c.6667G>A (p.Ala2223Thr) c.6388G>A (p.Ala2130Thr) c.5431G>A (p.Ala1811Thr) c.5422G>A (p.Ala1808Thr) | |
| 5 | g.37051872G>C | CA359510806 | NIPBL | c.7048G>C (p.Ala2350Pro) n.930G>C c.1-12706G>C (n.1-12706G>C) c.6304G>C (p.Ala2102Pro) c.6850G>C (p.Ala2284Pro) c.6667G>C (p.Ala2223Pro) c.6388G>C (p.Ala2130Pro) c.5431G>C (p.Ala1811Pro) c.5422G>C (p.Ala1808Pro) | |
| 5 | g.37051872G>T | CA359510808 | NIPBL | c.7048G>T (p.Ala2350Ser) n.930G>T c.1-12706G>T (n.1-12706G>T) c.6304G>T (p.Ala2102Ser) c.6850G>T (p.Ala2284Ser) c.6667G>T (p.Ala2223Ser) c.6388G>T (p.Ala2130Ser) c.5431G>T (p.Ala1811Ser) c.5422G>T (p.Ala1808Ser) | |
| 5 | g.37051873C>A | CA359510815 | NIPBL | c.7049C>A (p.Ala2350Asp) n.931C>A c.1-12705C>A (n.1-12705C>A) c.6305C>A (p.Ala2102Asp) c.6851C>A (p.Ala2284Asp) c.6668C>A (p.Ala2223Asp) c.6389C>A (p.Ala2130Asp) c.5432C>A (p.Ala1811Asp) c.5423C>A (p.Ala1808Asp) | gnomAD v4 |
| 5 | g.37051873C= | CA1539571486 | NIPBL | c.7049C= (p.Ala2350=) n.931C= c.1-12705C= (n.1-12705C=) c.6305C= (p.Ala2102=) c.6851C= (p.Ala2284=) c.6668C= (p.Ala2223=) c.6389C= (p.Ala2130=) c.5432C= (p.Ala1811=) c.5423C= (p.Ala1808=) | |
| 5 | g.37051873C>G | CA117051082 | NIPBL | c.7049C>G (p.Ala2350Gly) n.931C>G c.1-12705C>G (n.1-12705C>G) c.6305C>G (p.Ala2102Gly) c.6851C>G (p.Ala2284Gly) c.6668C>G (p.Ala2223Gly) c.6389C>G (p.Ala2130Gly) c.5432C>G (p.Ala1811Gly) c.5423C>G (p.Ala1808Gly) | dbSNP gnomAD v4 |
| 5 | g.37051873C>T | CA359510811 | NIPBL | c.7049C>T (p.Ala2350Val) n.931C>T c.1-12705C>T (n.1-12705C>T) c.6305C>T (p.Ala2102Val) c.6851C>T (p.Ala2284Val) c.6668C>T (p.Ala2223Val) c.6389C>T (p.Ala2130Val) c.5432C>T (p.Ala1811Val) c.5423C>T (p.Ala1808Val) | |
| 5 | g.37051874T>A | CA443910231 | NIPBL | c.7050T>A (p.Ala2350=) n.932T>A c.1-12704T>A (n.1-12704T>A) c.6306T>A (p.Ala2102=) c.6852T>A (p.Ala2284=) c.6669T>A (p.Ala2223=) c.6390T>A (p.Ala2130=) c.5433T>A (p.Ala1811=) c.5424T>A (p.Ala1808=) | |
| 5 | g.37051874T>C | CA443910233 | NIPBL | c.7050T>C (p.Ala2350=) n.932T>C c.1-12704T>C (n.1-12704T>C) c.6306T>C (p.Ala2102=) c.6852T>C (p.Ala2284=) c.6669T>C (p.Ala2223=) c.6390T>C (p.Ala2130=) c.5433T>C (p.Ala1811=) c.5424T>C (p.Ala1808=) | |
| 5 | g.37051874T>G | CA443910235 | NIPBL | c.7050T>G (p.Ala2350=) n.932T>G c.1-12704T>G (n.1-12704T>G) c.6306T>G (p.Ala2102=) c.6852T>G (p.Ala2284=) c.6669T>G (p.Ala2223=) c.6390T>G (p.Ala2130=) c.5433T>G (p.Ala1811=) c.5424T>G (p.Ala1808=) | |
| 5 | g.37051874_37051876del | CA2740097839 | NIPBL | c.7050_7052del (p.Gly2351del) n.932_934del c.1-12704_1-12702del (n.1-12704_1-12702del) c.6306_6308del (p.Gly2103del) c.6852_6854del (p.Gly2285del) c.6669_6671del (p.Gly2224del) c.6390_6392del (p.Gly2131del) c.5433_5435del (p.Gly1812del) c.5424_5426del (p.Gly1809del) | ClinVar |
| 5 | g.37051875G>A | CA359510822 | NIPBL | c.7051G>A (p.Gly2351Arg) n.933G>A c.1-12703G>A (n.1-12703G>A) c.6307G>A (p.Gly2103Arg) c.6853G>A (p.Gly2285Arg) c.6670G>A (p.Gly2224Arg) c.6391G>A (p.Gly2131Arg) c.5434G>A (p.Gly1812Arg) c.5425G>A (p.Gly1809Arg) | COSMIC COSMIC |
| 5 | g.37051875G>C | CA359510818 | NIPBL | c.7051G>C (p.Gly2351Arg) n.933G>C c.1-12703G>C (n.1-12703G>C) c.6307G>C (p.Gly2103Arg) c.6853G>C (p.Gly2285Arg) c.6670G>C (p.Gly2224Arg) c.6391G>C (p.Gly2131Arg) c.5434G>C (p.Gly1812Arg) c.5425G>C (p.Gly1809Arg) | |
| 5 | g.37051875G>T | CA359510819 | NIPBL | c.7051G>T (p.Gly2351Ter) n.933G>T c.1-12703G>T (n.1-12703G>T) c.6307G>T (p.Gly2103Ter) c.6853G>T (p.Gly2285Ter) c.6670G>T (p.Gly2224Ter) c.6391G>T (p.Gly2131Ter) c.5434G>T (p.Gly1812Ter) c.5425G>T (p.Gly1809Ter) | |
| 5 | g.37051876G>A | CA359510824 | NIPBL | c.7052G>A (p.Gly2351Glu) n.934G>A c.1-12702G>A (n.1-12702G>A) c.6308G>A (p.Gly2103Glu) c.6854G>A (p.Gly2285Glu) c.6671G>A (p.Gly2224Glu) c.6392G>A (p.Gly2131Glu) c.5435G>A (p.Gly1812Glu) c.5426G>A (p.Gly1809Glu) | |
| 5 | g.37051876G>C | CA359510827 | NIPBL | c.7052G>C (p.Gly2351Ala) n.934G>C c.1-12702G>C (n.1-12702G>C) c.6308G>C (p.Gly2103Ala) c.6854G>C (p.Gly2285Ala) c.6671G>C (p.Gly2224Ala) c.6392G>C (p.Gly2131Ala) c.5435G>C (p.Gly1812Ala) c.5426G>C (p.Gly1809Ala) | |
| 5 | g.37051876G>T | CA359510829 | NIPBL | c.7052G>T (p.Gly2351Val) n.934G>T c.1-12702G>T (n.1-12702G>T) c.6308G>T (p.Gly2103Val) c.6854G>T (p.Gly2285Val) c.6671G>T (p.Gly2224Val) c.6392G>T (p.Gly2131Val) c.5435G>T (p.Gly1812Val) c.5426G>T (p.Gly1809Val) | |
| 5 | g.37051877A= | CA1539571489 | NIPBL | c.7053A= (p.Gly2351=) n.935A= c.1-12701A= (n.1-12701A=) c.6309A= (p.Gly2103=) c.6855A= (p.Gly2285=) c.6672A= (p.Gly2224=) c.6393A= (p.Gly2131=) c.5436A= (p.Gly1812=) c.5427A= (p.Gly1809=) | |
| 5 | g.37051877A>C | CA443910246 | NIPBL | c.7053A>C (p.Gly2351=) n.935A>C c.1-12701A>C (n.1-12701A>C) c.6309A>C (p.Gly2103=) c.6855A>C (p.Gly2285=) c.6672A>C (p.Gly2224=) c.6393A>C (p.Gly2131=) c.5436A>C (p.Gly1812=) c.5427A>C (p.Gly1809=) | |
| 5 | g.37051877A>G | CA443910248 | NIPBL | c.7053A>G (p.Gly2351=) n.935A>G c.1-12701A>G (n.1-12701A>G) c.6309A>G (p.Gly2103=) c.6855A>G (p.Gly2285=) c.6672A>G (p.Gly2224=) c.6393A>G (p.Gly2131=) c.5436A>G (p.Gly1812=) c.5427A>G (p.Gly1809=) | dbSNP gnomAD v4 |
| 5 | g.37051877A>T | CA443910250 | NIPBL | c.7053A>T (p.Gly2351=) n.935A>T c.1-12701A>T (n.1-12701A>T) c.6309A>T (p.Gly2103=) c.6855A>T (p.Gly2285=) c.6672A>T (p.Gly2224=) c.6393A>T (p.Gly2131=) c.5436A>T (p.Gly1812=) c.5427A>T (p.Gly1809=) | |
| 5 | g.37051878T>A | CA359510832 | NIPBL | c.7054T>A (p.Phe2352Ile) n.936T>A c.1-12700T>A (n.1-12700T>A) c.6310T>A (p.Phe2104Ile) c.6856T>A (p.Phe2286Ile) c.6673T>A (p.Phe2225Ile) c.6394T>A (p.Phe2132Ile) c.5437T>A (p.Phe1813Ile) c.5428T>A (p.Phe1810Ile) | |
| 5 | g.37051878T>C | CA359510835 | NIPBL | c.7054T>C (p.Phe2352Leu) n.936T>C c.1-12700T>C (n.1-12700T>C) c.6310T>C (p.Phe2104Leu) c.6856T>C (p.Phe2286Leu) c.6673T>C (p.Phe2225Leu) c.6394T>C (p.Phe2132Leu) c.5437T>C (p.Phe1813Leu) c.5428T>C (p.Phe1810Leu) | |
| 5 | g.37051878T>G | CA359510837 | NIPBL | c.7054T>G (p.Phe2352Val) n.936T>G c.1-12700T>G (n.1-12700T>G) c.6310T>G (p.Phe2104Val) c.6856T>G (p.Phe2286Val) c.6673T>G (p.Phe2225Val) c.6394T>G (p.Phe2132Val) c.5437T>G (p.Phe1813Val) c.5428T>G (p.Phe1810Val) | |
| 5 | g.37051879T>A | CA359510838 | NIPBL | c.7055T>A (p.Phe2352Tyr) n.937T>A c.1-12699T>A (n.1-12699T>A) c.6311T>A (p.Phe2104Tyr) c.6857T>A (p.Phe2286Tyr) c.6674T>A (p.Phe2225Tyr) c.6395T>A (p.Phe2132Tyr) c.5438T>A (p.Phe1813Tyr) c.5429T>A (p.Phe1810Tyr) | |
| 5 | g.37051879T>C | CA359510839 | NIPBL | c.7055T>C (p.Phe2352Ser) n.937T>C c.1-12699T>C (n.1-12699T>C) c.6311T>C (p.Phe2104Ser) c.6857T>C (p.Phe2286Ser) c.6674T>C (p.Phe2225Ser) c.6395T>C (p.Phe2132Ser) c.5438T>C (p.Phe1813Ser) c.5429T>C (p.Phe1810Ser) | |
| 5 | g.37051879T>G | CA359510840 | NIPBL | c.7055T>G (p.Phe2352Cys) n.937T>G c.1-12699T>G (n.1-12699T>G) c.6311T>G (p.Phe2104Cys) c.6857T>G (p.Phe2286Cys) c.6674T>G (p.Phe2225Cys) c.6395T>G (p.Phe2132Cys) c.5438T>G (p.Phe1813Cys) c.5429T>G (p.Phe1810Cys) | |
| 5 | g.37051880C>A | CA359510841 | NIPBL | c.7056C>A (p.Phe2352Leu) n.938C>A c.1-12698C>A (n.1-12698C>A) c.6312C>A (p.Phe2104Leu) c.6858C>A (p.Phe2286Leu) c.6675C>A (p.Phe2225Leu) c.6396C>A (p.Phe2132Leu) c.5439C>A (p.Phe1813Leu) c.5430C>A (p.Phe1810Leu) | |
| 5 | g.37051880C>G | CA359510842 | NIPBL | c.7056C>G (p.Phe2352Leu) n.938C>G c.1-12698C>G (n.1-12698C>G) c.6312C>G (p.Phe2104Leu) c.6858C>G (p.Phe2286Leu) c.6675C>G (p.Phe2225Leu) c.6396C>G (p.Phe2132Leu) c.5439C>G (p.Phe1813Leu) c.5430C>G (p.Phe1810Leu) | |
| 5 | g.37051880C>T | CA443910263 | NIPBL | c.7056C>T (p.Phe2352=) n.938C>T c.1-12698C>T (n.1-12698C>T) c.6312C>T (p.Phe2104=) c.6858C>T (p.Phe2286=) c.6675C>T (p.Phe2225=) c.6396C>T (p.Phe2132=) c.5439C>T (p.Phe1813=) c.5430C>T (p.Phe1810=) | COSMIC COSMIC |
| 5 | g.37051881A= | CA1539571492 | NIPBL | c.7057A= (p.Ile2353=) n.939A= c.1-12697A= (n.1-12697A=) c.6313A= (p.Ile2105=) c.6859A= (p.Ile2287=) c.6676A= (p.Ile2226=) c.6397A= (p.Ile2133=) c.5440A= (p.Ile1814=) c.5431A= (p.Ile1811=) | |
| 5 | g.37051881A>C | CA359510845 | NIPBL | c.7057A>C (p.Ile2353Leu) n.939A>C c.1-12697A>C (n.1-12697A>C) c.6313A>C (p.Ile2105Leu) c.6859A>C (p.Ile2287Leu) c.6676A>C (p.Ile2226Leu) c.6397A>C (p.Ile2133Leu) c.5440A>C (p.Ile1814Leu) c.5431A>C (p.Ile1811Leu) | |
| 5 | g.37051881A>G | CA3237119 | NIPBL | c.7057A>G (p.Ile2353Val) n.939A>G c.1-12697A>G (n.1-12697A>G) c.6313A>G (p.Ile2105Val) c.6859A>G (p.Ile2287Val) c.6676A>G (p.Ile2226Val) c.6397A>G (p.Ile2133Val) c.5440A>G (p.Ile1814Val) c.5431A>G (p.Ile1811Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37051881A>T | CA359510844 | NIPBL | c.7057A>T (p.Ile2353Phe) n.939A>T c.1-12697A>T (n.1-12697A>T) c.6313A>T (p.Ile2105Phe) c.6859A>T (p.Ile2287Phe) c.6676A>T (p.Ile2226Phe) c.6397A>T (p.Ile2133Phe) c.5440A>T (p.Ile1814Phe) c.5431A>T (p.Ile1811Phe) | |
| 5 | g.37051882T>A | CA359510847 | NIPBL | c.7058T>A (p.Ile2353Asn) n.940T>A c.1-12696T>A (n.1-12696T>A) c.6314T>A (p.Ile2105Asn) c.6860T>A (p.Ile2287Asn) c.6677T>A (p.Ile2226Asn) c.6398T>A (p.Ile2133Asn) c.5441T>A (p.Ile1814Asn) c.5432T>A (p.Ile1811Asn) | |
| 5 | g.37051882T>C | CA359510849 | NIPBL | c.7058T>C (p.Ile2353Thr) n.940T>C c.1-12696T>C (n.1-12696T>C) c.6314T>C (p.Ile2105Thr) c.6860T>C (p.Ile2287Thr) c.6677T>C (p.Ile2226Thr) c.6398T>C (p.Ile2133Thr) c.5441T>C (p.Ile1814Thr) c.5432T>C (p.Ile1811Thr) | |
| 5 | g.37051882T>G | CA359510851 | NIPBL | c.7058T>G (p.Ile2353Ser) n.940T>G c.1-12696T>G (n.1-12696T>G) c.6314T>G (p.Ile2105Ser) c.6860T>G (p.Ile2287Ser) c.6677T>G (p.Ile2226Ser) c.6398T>G (p.Ile2133Ser) c.5441T>G (p.Ile1814Ser) c.5432T>G (p.Ile1811Ser) | |
| 5 | g.37051883T>A | CA443910278 | NIPBL | c.7059T>A (p.Ile2353=) n.941T>A c.1-12695T>A (n.1-12695T>A) c.6315T>A (p.Ile2105=) c.6861T>A (p.Ile2287=) c.6678T>A (p.Ile2226=) c.6399T>A (p.Ile2133=) c.5442T>A (p.Ile1814=) c.5433T>A (p.Ile1811=) | |
| 5 | g.37051883T>C | CA443910280 | NIPBL | c.7059T>C (p.Ile2353=) n.941T>C c.1-12695T>C (n.1-12695T>C) c.6315T>C (p.Ile2105=) c.6861T>C (p.Ile2287=) c.6678T>C (p.Ile2226=) c.6399T>C (p.Ile2133=) c.5442T>C (p.Ile1814=) c.5433T>C (p.Ile1811=) | |
| 5 | g.37051883T>G | CA359510852 | NIPBL | c.7059T>G (p.Ile2353Met) n.941T>G c.1-12695T>G (n.1-12695T>G) c.6315T>G (p.Ile2105Met) c.6861T>G (p.Ile2287Met) c.6678T>G (p.Ile2226Met) c.6399T>G (p.Ile2133Met) c.5442T>G (p.Ile1814Met) c.5433T>G (p.Ile1811Met) | |
| 5 | g.37051884C>A | CA359510855 | NIPBL | c.7060C>A (p.His2354Asn) n.942C>A c.1-12694C>A (n.1-12694C>A) c.6316C>A (p.His2106Asn) c.6862C>A (p.His2288Asn) c.6679C>A (p.His2227Asn) c.6400C>A (p.His2134Asn) c.5443C>A (p.His1815Asn) c.5434C>A (p.His1812Asn) | gnomAD v4 |
| 5 | g.37051884C>G | CA359510857 | NIPBL | c.7060C>G (p.His2354Asp) n.942C>G c.1-12694C>G (n.1-12694C>G) c.6316C>G (p.His2106Asp) c.6862C>G (p.His2288Asp) c.6679C>G (p.His2227Asp) c.6400C>G (p.His2134Asp) c.5443C>G (p.His1815Asp) c.5434C>G (p.His1812Asp) | |
| 5 | g.37051884C>T | CA359510860 | NIPBL | c.7060C>T (p.His2354Tyr) n.942C>T c.1-12694C>T (n.1-12694C>T) c.6316C>T (p.His2106Tyr) c.6862C>T (p.His2288Tyr) c.6679C>T (p.His2227Tyr) c.6400C>T (p.His2134Tyr) c.5443C>T (p.His1815Tyr) c.5434C>T (p.His1812Tyr) | |
| 5 | g.37051885A>C | CA359510863 | NIPBL | c.7061A>C (p.His2354Pro) n.943A>C c.1-12693A>C (n.1-12693A>C) c.6317A>C (p.His2106Pro) c.6863A>C (p.His2288Pro) c.6680A>C (p.His2227Pro) c.6401A>C (p.His2134Pro) c.5444A>C (p.His1815Pro) c.5435A>C (p.His1812Pro) | |
| 5 | g.37051885A>G | CA359510865 | NIPBL | c.7061A>G (p.His2354Arg) n.943A>G c.1-12693A>G (n.1-12693A>G) c.6317A>G (p.His2106Arg) c.6863A>G (p.His2288Arg) c.6680A>G (p.His2227Arg) c.6401A>G (p.His2134Arg) c.5444A>G (p.His1815Arg) c.5435A>G (p.His1812Arg) | |
| 5 | g.37051885A>T | CA359510867 | NIPBL | c.7061A>T (p.His2354Leu) n.943A>T c.1-12693A>T (n.1-12693A>T) c.6317A>T (p.His2106Leu) c.6863A>T (p.His2288Leu) c.6680A>T (p.His2227Leu) c.6401A>T (p.His2134Leu) c.5444A>T (p.His1815Leu) c.5435A>T (p.His1812Leu) | |
| 5 | g.37051886T>A | CA359510870 | NIPBL | c.7062T>A (p.His2354Gln) n.944T>A c.1-12692T>A (n.1-12692T>A) c.6318T>A (p.His2106Gln) c.6864T>A (p.His2288Gln) c.6681T>A (p.His2227Gln) c.6402T>A (p.His2134Gln) c.5445T>A (p.His1815Gln) c.5436T>A (p.His1812Gln) | |
| 5 | g.37051886T>C | CA443910295 | NIPBL | c.7062T>C (p.His2354=) n.944T>C c.1-12692T>C (n.1-12692T>C) c.6318T>C (p.His2106=) c.6864T>C (p.His2288=) c.6681T>C (p.His2227=) c.6402T>C (p.His2134=) c.5445T>C (p.His1815=) c.5436T>C (p.His1812=) | gnomAD v4 |
| 5 | g.37051886T>G | CA359510872 | NIPBL | c.7062T>G (p.His2354Gln) n.944T>G c.1-12692T>G (n.1-12692T>G) c.6318T>G (p.His2106Gln) c.6864T>G (p.His2288Gln) c.6681T>G (p.His2227Gln) c.6402T>G (p.His2134Gln) c.5445T>G (p.His1815Gln) c.5436T>G (p.His1812Gln) | |
| 5 | g.37051887G>A | CA359510877 | NIPBL | c.7062+1G>A (n.7062+1G>A) n.944+1G>A c.1-12691G>A (n.1-12691G>A) c.6318+1G>A (n.6318+1G>A) c.6864+1G>A (n.6864+1G>A) c.6681+1G>A (n.6681+1G>A) c.6402+1G>A (n.6402+1G>A) c.5445+1G>A (n.5445+1G>A) c.5436+1G>A (n.5436+1G>A) | gnomAD v4 |
| 5 | g.37051887G>C | CA359510879 | NIPBL | c.7062+1G>C (n.7062+1G>C) n.944+1G>C c.1-12691G>C (n.1-12691G>C) c.6318+1G>C (n.6318+1G>C) c.6864+1G>C (n.6864+1G>C) c.6681+1G>C (n.6681+1G>C) c.6402+1G>C (n.6402+1G>C) c.5445+1G>C (n.5445+1G>C) c.5436+1G>C (n.5436+1G>C) | |
| 5 | g.37051887G>T | CA359510875 | NIPBL | c.7062+1G>T (n.7062+1G>T) n.944+1G>T c.1-12691G>T (n.1-12691G>T) c.6318+1G>T (n.6318+1G>T) c.6864+1G>T (n.6864+1G>T) c.6681+1G>T (n.6681+1G>T) c.6402+1G>T (n.6402+1G>T) c.5445+1G>T (n.5445+1G>T) c.5436+1G>T (n.5436+1G>T) | |
| 5 | g.37051888T>A | CA359510890 | NIPBL | c.7062+2T>A (n.7062+2T>A) n.944+2T>A c.1-12690T>A (n.1-12690T>A) c.6318+2T>A (n.6318+2T>A) c.6864+2T>A (n.6864+2T>A) c.6681+2T>A (n.6681+2T>A) c.6402+2T>A (n.6402+2T>A) c.5445+2T>A (n.5445+2T>A) c.5436+2T>A (n.5436+2T>A) | |
| 5 | g.37051888T>C | CA272284 | NIPBL | c.7062+2T>C (n.7062+2T>C) n.944+2T>C c.1-12690T>C (n.1-12690T>C) c.6318+2T>C (n.6318+2T>C) c.6864+2T>C (n.6864+2T>C) c.6681+2T>C (n.6681+2T>C) c.6402+2T>C (n.6402+2T>C) c.5445+2T>C (n.5445+2T>C) c.5436+2T>C (n.5436+2T>C) | ClinVar dbSNP |
| 5 | g.37051888T>G | CA359510892 | NIPBL | c.7062+2T>G (n.7062+2T>G) n.944+2T>G c.1-12690T>G (n.1-12690T>G) c.6318+2T>G (n.6318+2T>G) c.6864+2T>G (n.6864+2T>G) c.6681+2T>G (n.6681+2T>G) c.6402+2T>G (n.6402+2T>G) c.5445+2T>G (n.5445+2T>G) c.5436+2T>G (n.5436+2T>G) | |
| 5 | g.37051888T= | CA1539571498 | NIPBL | c.7062+2T= (n.7062+2T=) n.944+2T= c.1-12690T= (n.1-12690T=) c.6318+2T= (n.6318+2T=) c.6864+2T= (n.6864+2T=) c.6681+2T= (n.6681+2T=) c.6402+2T= (n.6402+2T=) c.5445+2T= (n.5445+2T=) c.5436+2T= (n.5436+2T=) | |
| 5 | g.37051889A>T | CA2837995102 | NIPBL | c.7062+3A>T (n.7062+3A>T) n.944+3A>T c.1-12689A>T (n.1-12689A>T) c.6318+3A>T (n.6318+3A>T) c.6864+3A>T (n.6864+3A>T) c.6681+3A>T (n.6681+3A>T) c.6402+3A>T (n.6402+3A>T) c.5445+3A>T (n.5445+3A>T) c.5436+3A>T (n.5436+3A>T) | |
| 5 | g.37051890T>C | CA2673575640 | NIPBL | c.7062+4T>C (n.7062+4T>C) n.944+4T>C c.1-12688T>C (n.1-12688T>C) c.6318+4T>C (n.6318+4T>C) c.6864+4T>C (n.6864+4T>C) c.6681+4T>C (n.6681+4T>C) c.6402+4T>C (n.6402+4T>C) c.5445+4T>C (n.5445+4T>C) c.5436+4T>C (n.5436+4T>C) | gnomAD v4 |
| 5 | g.37051891G>A | CA1539571509 | NIPBL | c.7062+5G>A (n.7062+5G>A) n.944+5G>A c.1-12687G>A (n.1-12687G>A) c.6318+5G>A (n.6318+5G>A) c.6864+5G>A (n.6864+5G>A) c.6681+5G>A (n.6681+5G>A) c.6402+5G>A (n.6402+5G>A) c.5445+5G>A (n.5445+5G>A) c.5436+5G>A (n.5436+5G>A) | dbSNP |
| 5 | g.37051891G= | CA1539571506 | NIPBL | c.7062+5G= (n.7062+5G=) n.944+5G= c.1-12687G= (n.1-12687G=) c.6318+5G= (n.6318+5G=) c.6864+5G= (n.6864+5G=) c.6681+5G= (n.6681+5G=) c.6402+5G= (n.6402+5G=) c.5445+5G= (n.5445+5G=) c.5436+5G= (n.5436+5G=) | |
| 5 | g.37051891_37051893delinsGTA | CA1539571504 | NIPBL | c.7062+5_7062+7delinsGTA (n.7062+5_7062+7delinsGTA) n.944+5_944+7delinsGTA c.1-12687_1-12685delinsGTA (n.1-12687_1-12685delinsGTA) c.6318+5_6318+7delinsGTA (n.6318+5_6318+7delinsGTA) c.6864+5_6864+7delinsGTA (n.6864+5_6864+7delinsGTA) c.6681+5_6681+7delinsGTA (n.6681+5_6681+7delinsGTA) c.6402+5_6402+7delinsGTA (n.6402+5_6402+7delinsGTA) c.5445+5_5445+7delinsGTA (n.5445+5_5445+7delinsGTA) c.5436+5_5436+7delinsGTA (n.5436+5_5436+7delinsGTA) | |
| 5 | g.37051893_37051894del | CA3237120 | NIPBL | c.7062+7_7062+8del (n.7062+7_7062+8del) n.944+7_944+8del c.1-12685_1-12684del (n.1-12685_1-12684del) c.6318+7_6318+8del (n.6318+7_6318+8del) c.6864+7_6864+8del (n.6864+7_6864+8del) c.6681+7_6681+8del (n.6681+7_6681+8del) c.6402+7_6402+8del (n.6402+7_6402+8del) c.5445+7_5445+8del (n.5445+7_5445+8del) c.5436+7_5436+8del (n.5436+7_5436+8del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051893A= | CA1539571516 | NIPBL | c.7062+7A= (n.7062+7A=) n.944+7A= c.1-12685A= (n.1-12685A=) c.6318+7A= (n.6318+7A=) c.6864+7A= (n.6864+7A=) c.6681+7A= (n.6681+7A=) c.6402+7A= (n.6402+7A=) c.5445+7A= (n.5445+7A=) c.5436+7A= (n.5436+7A=) | |
| 5 | g.37051893A>G | CA3237121 | NIPBL | c.7062+7A>G (n.7062+7A>G) n.944+7A>G c.1-12685A>G (n.1-12685A>G) c.6318+7A>G (n.6318+7A>G) c.6864+7A>G (n.6864+7A>G) c.6681+7A>G (n.6681+7A>G) c.6402+7A>G (n.6402+7A>G) c.5445+7A>G (n.5445+7A>G) c.5436+7A>G (n.5436+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051894T>G | CA117051102 | NIPBL | c.7062+8T>G (n.7062+8T>G) n.944+8T>G c.1-12684T>G (n.1-12684T>G) c.6318+8T>G (n.6318+8T>G) c.6864+8T>G (n.6864+8T>G) c.6681+8T>G (n.6681+8T>G) c.6402+8T>G (n.6402+8T>G) c.5445+8T>G (n.5445+8T>G) c.5436+8T>G (n.5436+8T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37051894T= | CA1539571520 | NIPBL | c.7062+8T= (n.7062+8T=) n.944+8T= c.1-12684T= (n.1-12684T=) c.6318+8T= (n.6318+8T=) c.6864+8T= (n.6864+8T=) c.6681+8T= (n.6681+8T=) c.6402+8T= (n.6402+8T=) c.5445+8T= (n.5445+8T=) c.5436+8T= (n.5436+8T=) | |
| 5 | g.37051897dup | CA2673575641 | NIPBL | c.7062+11dup (n.7062+11dup) n.944+11dup c.1-12681dup (n.1-12681dup) c.6318+11dup (n.6318+11dup) c.6864+11dup (n.6864+11dup) c.6681+11dup (n.6681+11dup) c.6402+11dup (n.6402+11dup) c.5445+11dup (n.5445+11dup) c.5436+11dup (n.5436+11dup) | gnomAD v4 |
| 5 | g.37051896T>G | CA117051108 | NIPBL | c.7062+10T>G (n.7062+10T>G) n.944+10T>G c.1-12682T>G (n.1-12682T>G) c.6318+10T>G (n.6318+10T>G) c.6864+10T>G (n.6864+10T>G) c.6681+10T>G (n.6681+10T>G) c.6402+10T>G (n.6402+10T>G) c.5445+10T>G (n.5445+10T>G) c.5436+10T>G (n.5436+10T>G) | dbSNP gnomAD v4 |
| 5 | g.37051896T= | CA1539571523 | NIPBL | c.7062+10T= (n.7062+10T=) n.944+10T= c.1-12682T= (n.1-12682T=) c.6318+10T= (n.6318+10T=) c.6864+10T= (n.6864+10T=) c.6681+10T= (n.6681+10T=) c.6402+10T= (n.6402+10T=) c.5445+10T= (n.5445+10T=) c.5436+10T= (n.5436+10T=) | |
| 5 | g.37051897T>G | CA559022406 | NIPBL | c.7062+11T>G (n.7062+11T>G) n.944+11T>G c.1-12681T>G (n.1-12681T>G) c.6318+11T>G (n.6318+11T>G) c.6864+11T>G (n.6864+11T>G) c.6681+11T>G (n.6681+11T>G) c.6402+11T>G (n.6402+11T>G) c.5445+11T>G (n.5445+11T>G) c.5436+11T>G (n.5436+11T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051897T= | CA1539571526 | NIPBL | c.7062+11T= (n.7062+11T=) n.944+11T= c.1-12681T= (n.1-12681T=) c.6318+11T= (n.6318+11T=) c.6864+11T= (n.6864+11T=) c.6681+11T= (n.6681+11T=) c.6402+11T= (n.6402+11T=) c.5445+11T= (n.5445+11T=) c.5436+11T= (n.5436+11T=) | |
| 5 | g.37051898A>G | CA2673575642 | NIPBL | c.7062+12A>G (n.7062+12A>G) n.944+12A>G c.1-12680A>G (n.1-12680A>G) c.6318+12A>G (n.6318+12A>G) c.6864+12A>G (n.6864+12A>G) c.6681+12A>G (n.6681+12A>G) c.6402+12A>G (n.6402+12A>G) c.5445+12A>G (n.5445+12A>G) c.5436+12A>G (n.5436+12A>G) | gnomAD v4 |
| 5 | g.37051898A>T | CA2533904029 | NIPBL | c.7062+12A>T (n.7062+12A>T) n.944+12A>T c.1-12680A>T (n.1-12680A>T) c.6318+12A>T (n.6318+12A>T) c.6864+12A>T (n.6864+12A>T) c.6681+12A>T (n.6681+12A>T) c.6402+12A>T (n.6402+12A>T) c.5445+12A>T (n.5445+12A>T) c.5436+12A>T (n.5436+12A>T) | |
| 5 | g.37051900C>A | CA2545622963 | NIPBL | c.7062+14C>A (n.7062+14C>A) n.944+14C>A c.1-12678C>A (n.1-12678C>A) c.6318+14C>A (n.6318+14C>A) c.6864+14C>A (n.6864+14C>A) c.6681+14C>A (n.6681+14C>A) c.6402+14C>A (n.6402+14C>A) c.5445+14C>A (n.5445+14C>A) c.5436+14C>A (n.5436+14C>A) | gnomAD v4 |
| 5 | g.37051900C>T | CA2578289792 | NIPBL | c.7062+14C>T (n.7062+14C>T) n.944+14C>T c.1-12678C>T (n.1-12678C>T) c.6318+14C>T (n.6318+14C>T) c.6864+14C>T (n.6864+14C>T) c.6681+14C>T (n.6681+14C>T) c.6402+14C>T (n.6402+14C>T) c.5445+14C>T (n.5445+14C>T) c.5436+14C>T (n.5436+14C>T) | gnomAD v4 |
| 5 | g.37051901A>G | CA2673575643 | NIPBL | c.7062+15A>G (n.7062+15A>G) n.944+15A>G c.1-12677A>G (n.1-12677A>G) c.6318+15A>G (n.6318+15A>G) c.6864+15A>G (n.6864+15A>G) c.6681+15A>G (n.6681+15A>G) c.6402+15A>G (n.6402+15A>G) c.5445+15A>G (n.5445+15A>G) c.5436+15A>G (n.5436+15A>G) | gnomAD v4 |
| 5 | g.37051904T>C | CA559022407 | NIPBL | c.7062+18T>C (n.7062+18T>C) n.944+18T>C c.1-12674T>C (n.1-12674T>C) c.6318+18T>C (n.6318+18T>C) c.6864+18T>C (n.6864+18T>C) c.6681+18T>C (n.6681+18T>C) c.6402+18T>C (n.6402+18T>C) c.5445+18T>C (n.5445+18T>C) c.5436+18T>C (n.5436+18T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37051904T>G | CA2513575531 | NIPBL | c.7062+18T>G (n.7062+18T>G) n.944+18T>G c.1-12674T>G (n.1-12674T>G) c.6318+18T>G (n.6318+18T>G) c.6864+18T>G (n.6864+18T>G) c.6681+18T>G (n.6681+18T>G) c.6402+18T>G (n.6402+18T>G) c.5445+18T>G (n.5445+18T>G) c.5436+18T>G (n.5436+18T>G) | |
| 5 | g.37051904T= | CA1539571528 | NIPBL | c.7062+18T= (n.7062+18T=) n.944+18T= c.1-12674T= (n.1-12674T=) c.6318+18T= (n.6318+18T=) c.6864+18T= (n.6864+18T=) c.6681+18T= (n.6681+18T=) c.6402+18T= (n.6402+18T=) c.5445+18T= (n.5445+18T=) c.5436+18T= (n.5436+18T=) | |
| 5 | g.37051906A= | CA1539571531 | NIPBL | c.7062+20A= (n.7062+20A=) n.944+20A= c.1-12672A= (n.1-12672A=) c.6318+20A= (n.6318+20A=) c.6864+20A= (n.6864+20A=) c.6681+20A= (n.6681+20A=) c.6402+20A= (n.6402+20A=) c.5445+20A= (n.5445+20A=) c.5436+20A= (n.5436+20A=) | |
| 5 | g.37051906A>G | CA3237122 | NIPBL | c.7062+20A>G (n.7062+20A>G) n.944+20A>G c.1-12672A>G (n.1-12672A>G) c.6318+20A>G (n.6318+20A>G) c.6864+20A>G (n.6864+20A>G) c.6681+20A>G (n.6681+20A>G) c.6402+20A>G (n.6402+20A>G) c.5445+20A>G (n.5445+20A>G) c.5436+20A>G (n.5436+20A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051907T>C | CA3237123 | NIPBL | c.7062+21T>C (n.7062+21T>C) n.944+21T>C c.1-12671T>C (n.1-12671T>C) c.6318+21T>C (n.6318+21T>C) c.6864+21T>C (n.6864+21T>C) c.6681+21T>C (n.6681+21T>C) c.6402+21T>C (n.6402+21T>C) c.5445+21T>C (n.5445+21T>C) c.5436+21T>C (n.5436+21T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37051907T= | CA1539571533 | NIPBL | c.7062+21T= (n.7062+21T=) n.944+21T= c.1-12671T= (n.1-12671T=) c.6318+21T= (n.6318+21T=) c.6864+21T= (n.6864+21T=) c.6681+21T= (n.6681+21T=) c.6402+21T= (n.6402+21T=) c.5445+21T= (n.5445+21T=) c.5436+21T= (n.5436+21T=) | |
| 5 | g.37051909A= | CA1539571534 | NIPBL | c.7062+23A= (n.7062+23A=) n.944+23A= c.1-12669A= (n.1-12669A=) c.6318+23A= (n.6318+23A=) c.6864+23A= (n.6864+23A=) c.6681+23A= (n.6681+23A=) c.6402+23A= (n.6402+23A=) c.5445+23A= (n.5445+23A=) c.5436+23A= (n.5436+23A=) | |
| 5 | g.37051909A>G | CA559022409 | NIPBL | c.7062+23A>G (n.7062+23A>G) n.944+23A>G c.1-12669A>G (n.1-12669A>G) c.6318+23A>G (n.6318+23A>G) c.6864+23A>G (n.6864+23A>G) c.6681+23A>G (n.6681+23A>G) c.6402+23A>G (n.6402+23A>G) c.5445+23A>G (n.5445+23A>G) c.5436+23A>G (n.5436+23A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.37051910C>A | CA2673575644 | NIPBL | c.7062+24C>A (n.7062+24C>A) n.944+24C>A c.1-12668C>A (n.1-12668C>A) c.6318+24C>A (n.6318+24C>A) c.6864+24C>A (n.6864+24C>A) c.6681+24C>A (n.6681+24C>A) c.6402+24C>A (n.6402+24C>A) c.5445+24C>A (n.5445+24C>A) c.5436+24C>A (n.5436+24C>A) | gnomAD v4 |
| 5 | g.37051911C>A | CA2578289797 | NIPBL | c.7062+25C>A (n.7062+25C>A) n.944+25C>A c.1-12667C>A (n.1-12667C>A) c.6318+25C>A (n.6318+25C>A) c.6864+25C>A (n.6864+25C>A) c.6681+25C>A (n.6681+25C>A) c.6402+25C>A (n.6402+25C>A) c.5445+25C>A (n.5445+25C>A) c.5436+25C>A (n.5436+25C>A) | gnomAD v4 |
| 5 | g.37051912T>A | CA2673575645 | NIPBL | c.7062+26T>A (n.7062+26T>A) n.944+26T>A c.1-12666T>A (n.1-12666T>A) c.6318+26T>A (n.6318+26T>A) c.6864+26T>A (n.6864+26T>A) c.6681+26T>A (n.6681+26T>A) c.6402+26T>A (n.6402+26T>A) c.5445+26T>A (n.5445+26T>A) c.5436+26T>A (n.5436+26T>A) | gnomAD v4 |
| 5 | g.37051916T>C | CA3237124 | NIPBL | c.7062+30T>C (n.7062+30T>C) n.944+30T>C c.1-12662T>C (n.1-12662T>C) c.6318+30T>C (n.6318+30T>C) c.6864+30T>C (n.6864+30T>C) c.6681+30T>C (n.6681+30T>C) c.6402+30T>C (n.6402+30T>C) c.5445+30T>C (n.5445+30T>C) c.5436+30T>C (n.5436+30T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.37051916T= | CA1539571537 | NIPBL | c.7062+30T= (n.7062+30T=) n.944+30T= c.1-12662T= (n.1-12662T=) c.6318+30T= (n.6318+30T=) c.6864+30T= (n.6864+30T=) c.6681+30T= (n.6681+30T=) c.6402+30T= (n.6402+30T=) c.5445+30T= (n.5445+30T=) c.5436+30T= (n.5436+30T=) | |
| 5 | g.37051917T>G | CA3237125 | NIPBL | c.7062+31T>G (n.7062+31T>G) n.944+31T>G c.1-12661T>G (n.1-12661T>G) c.6318+31T>G (n.6318+31T>G) c.6864+31T>G (n.6864+31T>G) c.6681+31T>G (n.6681+31T>G) c.6402+31T>G (n.6402+31T>G) c.5445+31T>G (n.5445+31T>G) c.5436+31T>G (n.5436+31T>G) | dbSNP ExAC gnomAD v4 |
| 5 | g.37051917T= | CA1539571544 | NIPBL | c.7062+31T= (n.7062+31T=) n.944+31T= c.1-12661T= (n.1-12661T=) c.6318+31T= (n.6318+31T=) c.6864+31T= (n.6864+31T=) c.6681+31T= (n.6681+31T=) c.6402+31T= (n.6402+31T=) c.5445+31T= (n.5445+31T=) c.5436+31T= (n.5436+31T=) | |
| 5 | g.37051921A>G | CA2578289799 | NIPBL | c.7062+35A>G (n.7062+35A>G) n.944+35A>G c.1-12657A>G (n.1-12657A>G) c.6318+35A>G (n.6318+35A>G) c.6864+35A>G (n.6864+35A>G) c.6681+35A>G (n.6681+35A>G) c.6402+35A>G (n.6402+35A>G) c.5445+35A>G (n.5445+35A>G) c.5436+35A>G (n.5436+35A>G) | |
| 5 | g.37051922C>A | CA2673575646 | NIPBL | c.7062+36C>A (n.7062+36C>A) n.944+36C>A c.1-12656C>A (n.1-12656C>A) c.6318+36C>A (n.6318+36C>A) c.6864+36C>A (n.6864+36C>A) c.6681+36C>A (n.6681+36C>A) c.6402+36C>A (n.6402+36C>A) c.5445+36C>A (n.5445+36C>A) c.5436+36C>A (n.5436+36C>A) | gnomAD v4 |
| 5 | g.37051924T>C | CA3237126 | NIPBL | c.7062+38T>C (n.7062+38T>C) n.944+38T>C c.1-12654T>C (n.1-12654T>C) c.6318+38T>C (n.6318+38T>C) c.6864+38T>C (n.6864+38T>C) c.6681+38T>C (n.6681+38T>C) c.6402+38T>C (n.6402+38T>C) c.5445+38T>C (n.5445+38T>C) c.5436+38T>C (n.5436+38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.37051924T= | CA1539571545 | NIPBL | c.7062+38T= (n.7062+38T=) n.944+38T= c.1-12654T= (n.1-12654T=) c.6318+38T= (n.6318+38T=) c.6864+38T= (n.6864+38T=) c.6681+38T= (n.6681+38T=) c.6402+38T= (n.6402+38T=) c.5445+38T= (n.5445+38T=) c.5436+38T= (n.5436+38T=) | |
| 5 | g.37051927T>G | CA117051145 | NIPBL | c.7062+41T>G (n.7062+41T>G) n.944+41T>G c.1-12651T>G (n.1-12651T>G) c.6318+41T>G (n.6318+41T>G) c.6864+41T>G (n.6864+41T>G) c.6681+41T>G (n.6681+41T>G) c.6402+41T>G (n.6402+41T>G) c.5445+41T>G (n.5445+41T>G) c.5436+41T>G (n.5436+41T>G) | dbSNP |
| 5 | g.37051927T= | CA1539571548 | NIPBL | c.7062+41T= (n.7062+41T=) n.944+41T= c.1-12651T= (n.1-12651T=) c.6318+41T= (n.6318+41T=) c.6864+41T= (n.6864+41T=) c.6681+41T= (n.6681+41T=) c.6402+41T= (n.6402+41T=) c.5445+41T= (n.5445+41T=) c.5436+41T= (n.5436+41T=) | |
| 5 | g.37051929C>A | CA2578289801 | NIPBL | c.7062+43C>A (n.7062+43C>A) n.944+43C>A c.1-12649C>A (n.1-12649C>A) c.6318+43C>A (n.6318+43C>A) c.6864+43C>A (n.6864+43C>A) c.6681+43C>A (n.6681+43C>A) c.6402+43C>A (n.6402+43C>A) c.5445+43C>A (n.5445+43C>A) c.5436+43C>A (n.5436+43C>A) | |
| 5 | g.37051929C>G | CA2673575647 | NIPBL | c.7062+43C>G (n.7062+43C>G) n.944+43C>G c.1-12649C>G (n.1-12649C>G) c.6318+43C>G (n.6318+43C>G) c.6864+43C>G (n.6864+43C>G) c.6681+43C>G (n.6681+43C>G) c.6402+43C>G (n.6402+43C>G) c.5445+43C>G (n.5445+43C>G) c.5436+43C>G (n.5436+43C>G) | gnomAD v4 |
| 5 | g.37051932G>T | CA2578289803 | NIPBL | c.7062+46G>T (n.7062+46G>T) n.944+46G>T c.1-12646G>T (n.1-12646G>T) c.6318+46G>T (n.6318+46G>T) c.6864+46G>T (n.6864+46G>T) c.6681+46G>T (n.6681+46G>T) c.6402+46G>T (n.6402+46G>T) c.5445+46G>T (n.5445+46G>T) c.5436+46G>T (n.5436+46G>T) | gnomAD v4 |
| 5 | g.37051933A= | CA1539571556 | NIPBL | c.7062+47A= (n.7062+47A=) n.944+47A= c.1-12645A= (n.1-12645A=) c.6318+47A= (n.6318+47A=) c.6864+47A= (n.6864+47A=) c.6681+47A= (n.6681+47A=) c.6402+47A= (n.6402+47A=) c.5445+47A= (n.5445+47A=) c.5436+47A= (n.5436+47A=) | |
| 5 | g.37051933A>T | CA117051150 | NIPBL | c.7062+47A>T (n.7062+47A>T) n.944+47A>T c.1-12645A>T (n.1-12645A>T) c.6318+47A>T (n.6318+47A>T) c.6864+47A>T (n.6864+47A>T) c.6681+47A>T (n.6681+47A>T) c.6402+47A>T (n.6402+47A>T) c.5445+47A>T (n.5445+47A>T) c.5436+47A>T (n.5436+47A>T) | dbSNP |
| 5 | g.37051935T>A | CA2578289805 | NIPBL | c.7062+49T>A (n.7062+49T>A) n.944+49T>A c.1-12643T>A (n.1-12643T>A) c.6318+49T>A (n.6318+49T>A) c.6864+49T>A (n.6864+49T>A) c.6681+49T>A (n.6681+49T>A) c.6402+49T>A (n.6402+49T>A) c.5445+49T>A (n.5445+49T>A) c.5436+49T>A (n.5436+49T>A) | gnomAD v4 |
| 5 | g.37051935T>C | CA810284370 | NIPBL | c.7062+49T>C (n.7062+49T>C) n.944+49T>C c.1-12643T>C (n.1-12643T>C) c.6318+49T>C (n.6318+49T>C) c.6864+49T>C (n.6864+49T>C) c.6681+49T>C (n.6681+49T>C) c.6402+49T>C (n.6402+49T>C) c.5445+49T>C (n.5445+49T>C) c.5436+49T>C (n.5436+49T>C) | dbSNP |
| 5 | g.37051935T= | CA1539571557 | NIPBL | c.7062+49T= (n.7062+49T=) n.944+49T= c.1-12643T= (n.1-12643T=) c.6318+49T= (n.6318+49T=) c.6864+49T= (n.6864+49T=) c.6681+49T= (n.6681+49T=) c.6402+49T= (n.6402+49T=) c.5445+49T= (n.5445+49T=) c.5436+49T= (n.5436+49T=) | |
| 5 | g.37051937A>G | CA2673575648 | NIPBL | c.7062+51A>G (n.7062+51A>G) n.944+51A>G c.1-12641A>G (n.1-12641A>G) c.6318+51A>G (n.6318+51A>G) c.6864+51A>G (n.6864+51A>G) c.6681+51A>G (n.6681+51A>G) c.6402+51A>G (n.6402+51A>G) c.5445+51A>G (n.5445+51A>G) c.5436+51A>G (n.5436+51A>G) | gnomAD v4 |
| 5 | g.37051938A= | CA1539571559 | NIPBL | c.7062+52A= (n.7062+52A=) n.944+52A= c.1-12640A= (n.1-12640A=) c.6318+52A= (n.6318+52A=) c.6864+52A= (n.6864+52A=) c.6681+52A= (n.6681+52A=) c.6402+52A= (n.6402+52A=) c.5445+52A= (n.5445+52A=) c.5436+52A= (n.5436+52A=) | |
| 5 | g.37051938A>C | CA1539571558 | NIPBL | c.7062+52A>C (n.7062+52A>C) n.944+52A>C c.1-12640A>C (n.1-12640A>C) c.6318+52A>C (n.6318+52A>C) c.6864+52A>C (n.6864+52A>C) c.6681+52A>C (n.6681+52A>C) c.6402+52A>C (n.6402+52A>C) c.5445+52A>C (n.5445+52A>C) c.5436+52A>C (n.5436+52A>C) | dbSNP gnomAD v4 |
| 5 | g.37051939G>A | CA1539571561 | NIPBL | c.7062+53G>A (n.7062+53G>A) n.944+53G>A c.1-12639G>A (n.1-12639G>A) c.6318+53G>A (n.6318+53G>A) c.6864+53G>A (n.6864+53G>A) c.6681+53G>A (n.6681+53G>A) c.6402+53G>A (n.6402+53G>A) c.5445+53G>A (n.5445+53G>A) c.5436+53G>A (n.5436+53G>A) | dbSNP |
| 5 | g.37051939G>C | CA810284371 | NIPBL | c.7062+53G>C (n.7062+53G>C) n.944+53G>C c.1-12639G>C (n.1-12639G>C) c.6318+53G>C (n.6318+53G>C) c.6864+53G>C (n.6864+53G>C) c.6681+53G>C (n.6681+53G>C) c.6402+53G>C (n.6402+53G>C) c.5445+53G>C (n.5445+53G>C) c.5436+53G>C (n.5436+53G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.37051939G= | CA1539571560 | NIPBL | c.7062+53G= (n.7062+53G=) n.944+53G= c.1-12639G= (n.1-12639G=) c.6318+53G= (n.6318+53G=) c.6864+53G= (n.6864+53G=) c.6681+53G= (n.6681+53G=) c.6402+53G= (n.6402+53G=) c.5445+53G= (n.5445+53G=) c.5436+53G= (n.5436+53G=) | |
| 5 | g.37051940C>A | CA2578289808 | NIPBL | c.7062+54C>A (n.7062+54C>A) n.944+54C>A c.1-12638C>A (n.1-12638C>A) c.6318+54C>A (n.6318+54C>A) c.6864+54C>A (n.6864+54C>A) c.6681+54C>A (n.6681+54C>A) c.6402+54C>A (n.6402+54C>A) c.5445+54C>A (n.5445+54C>A) c.5436+54C>A (n.5436+54C>A) | gnomAD v4 |
| 5 | g.37051940C= | CA1539571563 | NIPBL | c.7062+54C= (n.7062+54C=) n.944+54C= c.1-12638C= (n.1-12638C=) c.6318+54C= (n.6318+54C=) c.6864+54C= (n.6864+54C=) c.6681+54C= (n.6681+54C=) c.6402+54C= (n.6402+54C=) c.5445+54C= (n.5445+54C=) c.5436+54C= (n.5436+54C=) | |
| 5 | g.37051940C>T | CA810284372 | NIPBL | c.7062+54C>T (n.7062+54C>T) n.944+54C>T c.1-12638C>T (n.1-12638C>T) c.6318+54C>T (n.6318+54C>T) c.6864+54C>T (n.6864+54C>T) c.6681+54C>T (n.6681+54C>T) c.6402+54C>T (n.6402+54C>T) c.5445+54C>T (n.5445+54C>T) c.5436+54C>T (n.5436+54C>T) | dbSNP gnomAD v4 |
| 5 | g.37051941A>G | CA2578289810 | NIPBL | c.7062+55A>G (n.7062+55A>G) n.944+55A>G c.1-12637A>G (n.1-12637A>G) c.6318+55A>G (n.6318+55A>G) c.6864+55A>G (n.6864+55A>G) c.6681+55A>G (n.6681+55A>G) c.6402+55A>G (n.6402+55A>G) c.5445+55A>G (n.5445+55A>G) c.5436+55A>G (n.5436+55A>G) |