Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.37052374_37052377del | CA2506879002 | NIPBL | c.7071_7074del (p.Val2358LeufsTer3) n.953_956del c.1-12204_1-12201del (n.1-12204_1-12201del) c.6327_6330del (p.Val2110LeufsTer3) c.6873_6876del (p.Val2292LeufsTer3) c.6690_6693del (p.Val2231LeufsTer3) c.6411_6414del (p.Val2138LeufsTer3) c.5454_5457del (p.Val1819LeufsTer3) c.5445_5448del (p.Val1816LeufsTer3) | |
5 | g.37052377G>A | CA443911283 | NIPBL | c.7074G>A (p.Val2358=) n.956G>A c.1-12201G>A (n.1-12201G>A) c.6330G>A (p.Val2110=) c.6876G>A (p.Val2292=) c.6693G>A (p.Val2231=) c.6414G>A (p.Val2138=) c.5457G>A (p.Val1819=) c.5448G>A (p.Val1816=) | |
5 | g.37052377G>C | CA443911285 | NIPBL | c.7074G>C (p.Val2358=) n.956G>C c.1-12201G>C (n.1-12201G>C) c.6330G>C (p.Val2110=) c.6876G>C (p.Val2292=) c.6693G>C (p.Val2231=) c.6414G>C (p.Val2138=) c.5457G>C (p.Val1819=) c.5448G>C (p.Val1816=) | |
5 | g.37052377G>T | CA443911288 | NIPBL | c.7074G>T (p.Val2358=) n.956G>T c.1-12201G>T (n.1-12201G>T) c.6330G>T (p.Val2110=) c.6876G>T (p.Val2292=) c.6693G>T (p.Val2231=) c.6414G>T (p.Val2138=) c.5457G>T (p.Val1819=) c.5448G>T (p.Val1816=) | |
5 | g.37052378G>A | CA359511073 | NIPBL | c.7075G>A (p.Ala2359Thr) n.957G>A c.1-12200G>A (n.1-12200G>A) c.6331G>A (p.Ala2111Thr) c.6877G>A (p.Ala2293Thr) c.6694G>A (p.Ala2232Thr) c.6415G>A (p.Ala2139Thr) c.5458G>A (p.Ala1820Thr) c.5449G>A (p.Ala1817Thr) | |
5 | g.37052378G>C | CA359511075 | NIPBL | c.7075G>C (p.Ala2359Pro) n.957G>C c.1-12200G>C (n.1-12200G>C) c.6331G>C (p.Ala2111Pro) c.6877G>C (p.Ala2293Pro) c.6694G>C (p.Ala2232Pro) c.6415G>C (p.Ala2139Pro) c.5458G>C (p.Ala1820Pro) c.5449G>C (p.Ala1817Pro) | |
5 | g.37052378G>T | CA359511076 | NIPBL | c.7075G>T (p.Ala2359Ser) n.957G>T c.1-12200G>T (n.1-12200G>T) c.6331G>T (p.Ala2111Ser) c.6877G>T (p.Ala2293Ser) c.6694G>T (p.Ala2232Ser) c.6415G>T (p.Ala2139Ser) c.5458G>T (p.Ala1820Ser) c.5449G>T (p.Ala1817Ser) | |
5 | g.37052379C>A | CA359511077 | NIPBL | c.7076C>A (p.Ala2359Asp) n.958C>A c.1-12199C>A (n.1-12199C>A) c.6332C>A (p.Ala2111Asp) c.6878C>A (p.Ala2293Asp) c.6695C>A (p.Ala2232Asp) c.6416C>A (p.Ala2139Asp) c.5459C>A (p.Ala1820Asp) c.5450C>A (p.Ala1817Asp) | |
5 | g.37052379C= | CA1539572081 | NIPBL | c.7076C= (p.Ala2359=) n.958C= c.1-12199C= (n.1-12199C=) c.6332C= (p.Ala2111=) c.6878C= (p.Ala2293=) c.6695C= (p.Ala2232=) c.6416C= (p.Ala2139=) c.5459C= (p.Ala1820=) c.5450C= (p.Ala1817=) | |
5 | g.37052379C>G | CA359511079 | NIPBL | c.7076C>G (p.Ala2359Gly) n.958C>G c.1-12199C>G (n.1-12199C>G) c.6332C>G (p.Ala2111Gly) c.6878C>G (p.Ala2293Gly) c.6695C>G (p.Ala2232Gly) c.6416C>G (p.Ala2139Gly) c.5459C>G (p.Ala1820Gly) c.5450C>G (p.Ala1817Gly) | dbSNP gnomAD v4 |
5 | g.37052379C>T | CA359511078 | NIPBL | c.7076C>T (p.Ala2359Val) n.958C>T c.1-12199C>T (n.1-12199C>T) c.6332C>T (p.Ala2111Val) c.6878C>T (p.Ala2293Val) c.6695C>T (p.Ala2232Val) c.6416C>T (p.Ala2139Val) c.5459C>T (p.Ala1820Val) c.5450C>T (p.Ala1817Val) | gnomAD v4 |
5 | g.37052380T>A | CA443911298 | NIPBL | c.7077T>A (p.Ala2359=) n.959T>A c.1-12198T>A (n.1-12198T>A) c.6333T>A (p.Ala2111=) c.6879T>A (p.Ala2293=) c.6696T>A (p.Ala2232=) c.6417T>A (p.Ala2139=) c.5460T>A (p.Ala1820=) c.5451T>A (p.Ala1817=) | |
5 | g.37052380T>C | CA3237137 | NIPBL | c.7077T>C (p.Ala2359=) n.959T>C c.1-12198T>C (n.1-12198T>C) c.6333T>C (p.Ala2111=) c.6879T>C (p.Ala2293=) c.6696T>C (p.Ala2232=) c.6417T>C (p.Ala2139=) c.5460T>C (p.Ala1820=) c.5451T>C (p.Ala1817=) | dbSNP ExAC |
5 | g.37052380T>G | CA443911301 | NIPBL | c.7077T>G (p.Ala2359=) n.959T>G c.1-12198T>G (n.1-12198T>G) c.6333T>G (p.Ala2111=) c.6879T>G (p.Ala2293=) c.6696T>G (p.Ala2232=) c.6417T>G (p.Ala2139=) c.5460T>G (p.Ala1820=) c.5451T>G (p.Ala1817=) | |
5 | g.37052380T= | CA1539572086 | NIPBL | c.7077T= (p.Ala2359=) n.959T= c.1-12198T= (n.1-12198T=) c.6333T= (p.Ala2111=) c.6879T= (p.Ala2293=) c.6696T= (p.Ala2232=) c.6417T= (p.Ala2139=) c.5460T= (p.Ala1820=) c.5451T= (p.Ala1817=) | |
5 | g.37052381G>A | CA359511081 | NIPBL | c.7078G>A (p.Gly2360Ser) n.960G>A c.1-12197G>A (n.1-12197G>A) c.6334G>A (p.Gly2112Ser) c.6880G>A (p.Gly2294Ser) c.6697G>A (p.Gly2233Ser) c.6418G>A (p.Gly2140Ser) c.5461G>A (p.Gly1821Ser) c.5452G>A (p.Gly1818Ser) | |
5 | g.37052381G>C | CA359511082 | NIPBL | c.7078G>C (p.Gly2360Arg) n.960G>C c.1-12197G>C (n.1-12197G>C) c.6334G>C (p.Gly2112Arg) c.6880G>C (p.Gly2294Arg) c.6697G>C (p.Gly2233Arg) c.6418G>C (p.Gly2140Arg) c.5461G>C (p.Gly1821Arg) c.5452G>C (p.Gly1818Arg) | |
5 | g.37052381G>T | CA359511084 | NIPBL | c.7078G>T (p.Gly2360Cys) n.960G>T c.1-12197G>T (n.1-12197G>T) c.6334G>T (p.Gly2112Cys) c.6880G>T (p.Gly2294Cys) c.6697G>T (p.Gly2233Cys) c.6418G>T (p.Gly2140Cys) c.5461G>T (p.Gly1821Cys) c.5452G>T (p.Gly1818Cys) | |
5 | g.37052381_37052382insCTTACAAATT | CA2512060369 | NIPBL | c.7078_7079insCTTACAAATT (p.Gly2360AlafsTer33) n.960_961insCTTACAAATT c.1-12197_1-12196insCTTACAAATT (n.1-12197_1-12196insCTTACAAATT) c.6334_6335insCTTACAAATT (p.Gly2112AlafsTer33) c.6880_6881insCTTACAAATT (p.Gly2294AlafsTer33) c.6697_6698insCTTACAAATT (p.Gly2233AlafsTer33) c.6418_6419insCTTACAAATT (p.Gly2140AlafsTer33) c.5461_5462insCTTACAAATT (p.Gly1821AlafsTer33) c.5452_5453insCTTACAAATT (p.Gly1818AlafsTer33) | |
5 | g.37052382G>A | CA359511090 | NIPBL | c.7079G>A (p.Gly2360Asp) n.961G>A c.1-12196G>A (n.1-12196G>A) c.6335G>A (p.Gly2112Asp) c.6881G>A (p.Gly2294Asp) c.6698G>A (p.Gly2233Asp) c.6419G>A (p.Gly2140Asp) c.5462G>A (p.Gly1821Asp) c.5453G>A (p.Gly1818Asp) | ClinVar dbSNP |
5 | g.37052382G>C | CA359511094 | NIPBL | c.7079G>C (p.Gly2360Ala) n.961G>C c.1-12196G>C (n.1-12196G>C) c.6335G>C (p.Gly2112Ala) c.6881G>C (p.Gly2294Ala) c.6698G>C (p.Gly2233Ala) c.6419G>C (p.Gly2140Ala) c.5462G>C (p.Gly1821Ala) c.5453G>C (p.Gly1818Ala) | |
5 | g.37052382G>T | CA359511095 | NIPBL | c.7079G>T (p.Gly2360Val) n.961G>T c.1-12196G>T (n.1-12196G>T) c.6335G>T (p.Gly2112Val) c.6881G>T (p.Gly2294Val) c.6698G>T (p.Gly2233Val) c.6419G>T (p.Gly2140Val) c.5462G>T (p.Gly1821Val) c.5453G>T (p.Gly1818Val) | |
5 | g.37052382_37052383insAAAT | CA2506877374 | NIPBL | c.7079_7080insAAAT (p.Met2361AsnfsTer30) n.961_962insAAAT c.1-12196_1-12195insAAAT (n.1-12196_1-12195insAAAT) c.6335_6336insAAAT (p.Met2113AsnfsTer30) c.6881_6882insAAAT (p.Met2295AsnfsTer30) c.6698_6699insAAAT (p.Met2234AsnfsTer30) c.6419_6420insAAAT (p.Met2141AsnfsTer30) c.5462_5463insAAAT (p.Met1822AsnfsTer30) c.5453_5454insAAAT (p.Met1819AsnfsTer30) | |
5 | g.37052383T>A | CA443911314 | NIPBL | c.7080T>A (p.Gly2360=) n.962T>A c.1-12195T>A (n.1-12195T>A) c.6336T>A (p.Gly2112=) c.6882T>A (p.Gly2294=) c.6699T>A (p.Gly2233=) c.6420T>A (p.Gly2140=) c.5463T>A (p.Gly1821=) c.5454T>A (p.Gly1818=) | |
5 | g.37052383T>C | CA443911319 | NIPBL | c.7080T>C (p.Gly2360=) n.962T>C c.1-12195T>C (n.1-12195T>C) c.6336T>C (p.Gly2112=) c.6882T>C (p.Gly2294=) c.6699T>C (p.Gly2233=) c.6420T>C (p.Gly2140=) c.5463T>C (p.Gly1821=) c.5454T>C (p.Gly1818=) | |
5 | g.37052383T>G | CA3237138 | NIPBL | c.7080T>G (p.Gly2360=) n.962T>G c.1-12195T>G (n.1-12195T>G) c.6336T>G (p.Gly2112=) c.6882T>G (p.Gly2294=) c.6699T>G (p.Gly2233=) c.6420T>G (p.Gly2140=) c.5463T>G (p.Gly1821=) c.5454T>G (p.Gly1818=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37052383T= | CA1539572088 | NIPBL | c.7080T= (p.Gly2360=) n.962T= c.1-12195T= (n.1-12195T=) c.6336T= (p.Gly2112=) c.6882T= (p.Gly2294=) c.6699T= (p.Gly2233=) c.6420T= (p.Gly2140=) c.5463T= (p.Gly1821=) c.5454T= (p.Gly1818=) | |
5 | g.37052384A= | CA1539572096 | NIPBL | c.7081A= (p.Met2361=) n.963A= c.1-12194A= (n.1-12194A=) c.6337A= (p.Met2113=) c.6883A= (p.Met2295=) c.6700A= (p.Met2234=) c.6421A= (p.Met2141=) c.5464A= (p.Met1822=) c.5455A= (p.Met1819=) | |
5 | g.37052384A>C | CA359511097 | NIPBL | c.7081A>C (p.Met2361Leu) n.963A>C c.1-12194A>C (n.1-12194A>C) c.6337A>C (p.Met2113Leu) c.6883A>C (p.Met2295Leu) c.6700A>C (p.Met2234Leu) c.6421A>C (p.Met2141Leu) c.5464A>C (p.Met1822Leu) c.5455A>C (p.Met1819Leu) | |
5 | g.37052384A>G | CA359511098 | NIPBL | c.7081A>G (p.Met2361Val) n.963A>G c.1-12194A>G (n.1-12194A>G) c.6337A>G (p.Met2113Val) c.6883A>G (p.Met2295Val) c.6700A>G (p.Met2234Val) c.6421A>G (p.Met2141Val) c.5464A>G (p.Met1822Val) c.5455A>G (p.Met1819Val) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37052384A>T | CA359511099 | NIPBL | c.7081A>T (p.Met2361Leu) n.963A>T c.1-12194A>T (n.1-12194A>T) c.6337A>T (p.Met2113Leu) c.6883A>T (p.Met2295Leu) c.6700A>T (p.Met2234Leu) c.6421A>T (p.Met2141Leu) c.5464A>T (p.Met1822Leu) c.5455A>T (p.Met1819Leu) | dbSNP |
5 | g.37052385T>A | CA359511100 | NIPBL | c.7082T>A (p.Met2361Lys) n.964T>A c.1-12193T>A (n.1-12193T>A) c.6338T>A (p.Met2113Lys) c.6884T>A (p.Met2295Lys) c.6701T>A (p.Met2234Lys) c.6422T>A (p.Met2141Lys) c.5465T>A (p.Met1822Lys) c.5456T>A (p.Met1819Lys) | |
5 | g.37052385T>C | CA359511102 | NIPBL | c.7082T>C (p.Met2361Thr) n.964T>C c.1-12193T>C (n.1-12193T>C) c.6338T>C (p.Met2113Thr) c.6884T>C (p.Met2295Thr) c.6701T>C (p.Met2234Thr) c.6422T>C (p.Met2141Thr) c.5465T>C (p.Met1822Thr) c.5456T>C (p.Met1819Thr) | |
5 | g.37052385T>G | CA359511101 | NIPBL | c.7082T>G (p.Met2361Arg) n.964T>G c.1-12193T>G (n.1-12193T>G) c.6338T>G (p.Met2113Arg) c.6884T>G (p.Met2295Arg) c.6701T>G (p.Met2234Arg) c.6422T>G (p.Met2141Arg) c.5465T>G (p.Met1822Arg) c.5456T>G (p.Met1819Arg) | |
5 | g.37052385_37052386insAAAACA | CA2514751731 | NIPBL | c.7082_7083insAAAACA (p.Met2361delinsIleLysGln) n.964_965insAAAACA c.1-12193_1-12192insAAAACA (n.1-12193_1-12192insAAAACA) c.6338_6339insAAAACA (p.Met2113delinsIleLysGln) c.6884_6885insAAAACA (p.Met2295delinsIleLysGln) c.6701_6702insAAAACA (p.Met2234delinsIleLysGln) c.6422_6423insAAAACA (p.Met2141delinsIleLysGln) c.5465_5466insAAAACA (p.Met1822delinsIleLysGln) c.5456_5457insAAAACA (p.Met1819delinsIleLysGln) | |
5 | g.37052386G>A | CA359511103 | NIPBL | c.7083G>A (p.Met2361Ile) n.965G>A c.1-12192G>A (n.1-12192G>A) c.6339G>A (p.Met2113Ile) c.6885G>A (p.Met2295Ile) c.6702G>A (p.Met2234Ile) c.6423G>A (p.Met2141Ile) c.5466G>A (p.Met1822Ile) c.5457G>A (p.Met1819Ile) | |
5 | g.37052386G>C | CA359511104 | NIPBL | c.7083G>C (p.Met2361Ile) n.965G>C c.1-12192G>C (n.1-12192G>C) c.6339G>C (p.Met2113Ile) c.6885G>C (p.Met2295Ile) c.6702G>C (p.Met2234Ile) c.6423G>C (p.Met2141Ile) c.5466G>C (p.Met1822Ile) c.5457G>C (p.Met1819Ile) | |
5 | g.37052386G>T | CA359511106 | NIPBL | c.7083G>T (p.Met2361Ile) n.965G>T c.1-12192G>T (n.1-12192G>T) c.6339G>T (p.Met2113Ile) c.6885G>T (p.Met2295Ile) c.6702G>T (p.Met2234Ile) c.6423G>T (p.Met2141Ile) c.5466G>T (p.Met1822Ile) c.5457G>T (p.Met1819Ile) | |
5 | g.37052387A>C | CA359511107 | NIPBL | c.7084A>C (p.Lys2362Gln) n.966A>C c.1-12191A>C (n.1-12191A>C) c.6340A>C (p.Lys2114Gln) c.6886A>C (p.Lys2296Gln) c.6703A>C (p.Lys2235Gln) c.6424A>C (p.Lys2142Gln) c.5467A>C (p.Lys1823Gln) c.5458A>C (p.Lys1820Gln) | |
5 | g.37052387A>G | CA359511108 | NIPBL | c.7084A>G (p.Lys2362Glu) n.966A>G c.1-12191A>G (n.1-12191A>G) c.6340A>G (p.Lys2114Glu) c.6886A>G (p.Lys2296Glu) c.6703A>G (p.Lys2235Glu) c.6424A>G (p.Lys2142Glu) c.5467A>G (p.Lys1823Glu) c.5458A>G (p.Lys1820Glu) | |
5 | g.37052387A>T | CA359511109 | NIPBL | c.7084A>T (p.Lys2362Ter) n.966A>T c.1-12191A>T (n.1-12191A>T) c.6340A>T (p.Lys2114Ter) c.6886A>T (p.Lys2296Ter) c.6703A>T (p.Lys2235Ter) c.6424A>T (p.Lys2142Ter) c.5467A>T (p.Lys1823Ter) c.5458A>T (p.Lys1820Ter) | |
5 | g.37052388A>C | CA359511110 | NIPBL | c.7085A>C (p.Lys2362Thr) n.967A>C c.1-12190A>C (n.1-12190A>C) c.6341A>C (p.Lys2114Thr) c.6887A>C (p.Lys2296Thr) c.6704A>C (p.Lys2235Thr) c.6425A>C (p.Lys2142Thr) c.5468A>C (p.Lys1823Thr) c.5459A>C (p.Lys1820Thr) | |
5 | g.37052388A>G | CA359511111 | NIPBL | c.7085A>G (p.Lys2362Arg) n.967A>G c.1-12190A>G (n.1-12190A>G) c.6341A>G (p.Lys2114Arg) c.6887A>G (p.Lys2296Arg) c.6704A>G (p.Lys2235Arg) c.6425A>G (p.Lys2142Arg) c.5468A>G (p.Lys1823Arg) c.5459A>G (p.Lys1820Arg) | |
5 | g.37052388A>T | CA359511113 | NIPBL | c.7085A>T (p.Lys2362Met) n.967A>T c.1-12190A>T (n.1-12190A>T) c.6341A>T (p.Lys2114Met) c.6887A>T (p.Lys2296Met) c.6704A>T (p.Lys2235Met) c.6425A>T (p.Lys2142Met) c.5468A>T (p.Lys1823Met) c.5459A>T (p.Lys1820Met) | |
5 | g.37052389G>A | CA443911346 | NIPBL | c.7086G>A (p.Lys2362=) n.968G>A c.1-12189G>A (n.1-12189G>A) c.6342G>A (p.Lys2114=) c.6888G>A (p.Lys2296=) c.6705G>A (p.Lys2235=) c.6426G>A (p.Lys2142=) c.5469G>A (p.Lys1823=) c.5460G>A (p.Lys1820=) | gnomAD v4 |
5 | g.37052389G>C | CA359511115 | NIPBL | c.7086G>C (p.Lys2362Asn) n.968G>C c.1-12189G>C (n.1-12189G>C) c.6342G>C (p.Lys2114Asn) c.6888G>C (p.Lys2296Asn) c.6705G>C (p.Lys2235Asn) c.6426G>C (p.Lys2142Asn) c.5469G>C (p.Lys1823Asn) c.5460G>C (p.Lys1820Asn) | |
5 | g.37052389G>T | CA359511116 | NIPBL | c.7086G>T (p.Lys2362Asn) n.968G>T c.1-12189G>T (n.1-12189G>T) c.6342G>T (p.Lys2114Asn) c.6888G>T (p.Lys2296Asn) c.6705G>T (p.Lys2235Asn) c.6426G>T (p.Lys2142Asn) c.5469G>T (p.Lys1823Asn) c.5460G>T (p.Lys1820Asn) | |
5 | g.37052390A>C | CA359511119 | NIPBL | c.7087A>C (p.Met2363Leu) n.969A>C c.1-12188A>C (n.1-12188A>C) c.6343A>C (p.Met2115Leu) c.6889A>C (p.Met2297Leu) c.6706A>C (p.Met2236Leu) c.6427A>C (p.Met2143Leu) c.5470A>C (p.Met1824Leu) c.5461A>C (p.Met1821Leu) | |
5 | g.37052390A>G | CA359511118 | NIPBL | c.7087A>G (p.Met2363Val) n.969A>G c.1-12188A>G (n.1-12188A>G) c.6343A>G (p.Met2115Val) c.6889A>G (p.Met2297Val) c.6706A>G (p.Met2236Val) c.6427A>G (p.Met2143Val) c.5470A>G (p.Met1824Val) c.5461A>G (p.Met1821Val) | |
5 | g.37052390A>T | CA359511117 | NIPBL | c.7087A>T (p.Met2363Leu) n.969A>T c.1-12188A>T (n.1-12188A>T) c.6343A>T (p.Met2115Leu) c.6889A>T (p.Met2297Leu) c.6706A>T (p.Met2236Leu) c.6427A>T (p.Met2143Leu) c.5470A>T (p.Met1824Leu) c.5461A>T (p.Met1821Leu) | |
5 | g.37052390_37052391insAACTATCA | CA2508479204 | NIPBL | c.7087_7088insAACTATCA (p.Met2363LysfsTer16) n.969_970insAACTATCA c.1-12188_1-12187insAACTATCA (n.1-12188_1-12187insAACTATCA) c.6343_6344insAACTATCA (p.Met2115LysfsTer16) c.6889_6890insAACTATCA (p.Met2297LysfsTer16) c.6706_6707insAACTATCA (p.Met2236LysfsTer16) c.6427_6428insAACTATCA (p.Met2143LysfsTer16) c.5470_5471insAACTATCA (p.Met1824LysfsTer16) c.5461_5462insAACTATCA (p.Met1821LysfsTer16) | |
5 | g.37052391T>A | CA359511121 | NIPBL | c.7088T>A (p.Met2363Lys) n.970T>A c.1-12187T>A (n.1-12187T>A) c.6344T>A (p.Met2115Lys) c.6890T>A (p.Met2297Lys) c.6707T>A (p.Met2236Lys) c.6428T>A (p.Met2143Lys) c.5471T>A (p.Met1824Lys) c.5462T>A (p.Met1821Lys) | |
5 | g.37052391T>C | CA359511123 | NIPBL | c.7088T>C (p.Met2363Thr) n.970T>C c.1-12187T>C (n.1-12187T>C) c.6344T>C (p.Met2115Thr) c.6890T>C (p.Met2297Thr) c.6707T>C (p.Met2236Thr) c.6428T>C (p.Met2143Thr) c.5471T>C (p.Met1824Thr) c.5462T>C (p.Met1821Thr) | |
5 | g.37052391T>G | CA359511125 | NIPBL | c.7088T>G (p.Met2363Arg) n.970T>G c.1-12187T>G (n.1-12187T>G) c.6344T>G (p.Met2115Arg) c.6890T>G (p.Met2297Arg) c.6707T>G (p.Met2236Arg) c.6428T>G (p.Met2143Arg) c.5471T>G (p.Met1824Arg) c.5462T>G (p.Met1821Arg) | |
5 | g.37052392G>A | CA359511128 | NIPBL | c.7089G>A (p.Met2363Ile) n.971G>A c.1-12186G>A (n.1-12186G>A) c.6345G>A (p.Met2115Ile) c.6891G>A (p.Met2297Ile) c.6708G>A (p.Met2236Ile) c.6429G>A (p.Met2143Ile) c.5472G>A (p.Met1824Ile) c.5463G>A (p.Met1821Ile) | |
5 | g.37052392G>C | CA359511129 | NIPBL | c.7089G>C (p.Met2363Ile) n.971G>C c.1-12186G>C (n.1-12186G>C) c.6345G>C (p.Met2115Ile) c.6891G>C (p.Met2297Ile) c.6708G>C (p.Met2236Ile) c.6429G>C (p.Met2143Ile) c.5472G>C (p.Met1824Ile) c.5463G>C (p.Met1821Ile) | |
5 | g.37052392G>T | CA359511131 | NIPBL | c.7089G>T (p.Met2363Ile) n.971G>T c.1-12186G>T (n.1-12186G>T) c.6345G>T (p.Met2115Ile) c.6891G>T (p.Met2297Ile) c.6708G>T (p.Met2236Ile) c.6429G>T (p.Met2143Ile) c.5472G>T (p.Met1824Ile) c.5463G>T (p.Met1821Ile) | |
5 | g.37052393T>A | CA359511132 | NIPBL | c.7090T>A (p.Ser2364Thr) n.972T>A c.1-12185T>A (n.1-12185T>A) c.6346T>A (p.Ser2116Thr) c.6892T>A (p.Ser2298Thr) c.6709T>A (p.Ser2237Thr) c.6430T>A (p.Ser2144Thr) c.5473T>A (p.Ser1825Thr) c.5464T>A (p.Ser1822Thr) | |
5 | g.37052393T>C | CA359511134 | NIPBL | c.7090T>C (p.Ser2364Pro) n.972T>C c.1-12185T>C (n.1-12185T>C) c.6346T>C (p.Ser2116Pro) c.6892T>C (p.Ser2298Pro) c.6709T>C (p.Ser2237Pro) c.6430T>C (p.Ser2144Pro) c.5473T>C (p.Ser1825Pro) c.5464T>C (p.Ser1822Pro) | |
5 | g.37052393T>G | CA359511135 | NIPBL | c.7090T>G (p.Ser2364Ala) n.972T>G c.1-12185T>G (n.1-12185T>G) c.6346T>G (p.Ser2116Ala) c.6892T>G (p.Ser2298Ala) c.6709T>G (p.Ser2237Ala) c.6430T>G (p.Ser2144Ala) c.5473T>G (p.Ser1825Ala) c.5464T>G (p.Ser1822Ala) | |
5 | g.37052394C>A | CA359511136 | NIPBL | c.7091C>A (p.Ser2364Tyr) n.973C>A c.1-12184C>A (n.1-12184C>A) c.6347C>A (p.Ser2116Tyr) c.6893C>A (p.Ser2298Tyr) c.6710C>A (p.Ser2237Tyr) c.6431C>A (p.Ser2144Tyr) c.5474C>A (p.Ser1825Tyr) c.5465C>A (p.Ser1822Tyr) | |
5 | g.37052394C>G | CA359511137 | NIPBL | c.7091C>G (p.Ser2364Cys) n.973C>G c.1-12184C>G (n.1-12184C>G) c.6347C>G (p.Ser2116Cys) c.6893C>G (p.Ser2298Cys) c.6710C>G (p.Ser2237Cys) c.6431C>G (p.Ser2144Cys) c.5474C>G (p.Ser1825Cys) c.5465C>G (p.Ser1822Cys) | |
5 | g.37052394C>T | CA359511138 | NIPBL | c.7091C>T (p.Ser2364Phe) n.973C>T c.1-12184C>T (n.1-12184C>T) c.6347C>T (p.Ser2116Phe) c.6893C>T (p.Ser2298Phe) c.6710C>T (p.Ser2237Phe) c.6431C>T (p.Ser2144Phe) c.5474C>T (p.Ser1825Phe) c.5465C>T (p.Ser1822Phe) | |
5 | g.37052394_37052401del | CA2501076810 | NIPBL | c.7091_7098del (p.Ser2364CysfsTer23) n.973_980del c.1-12184_1-12177del (n.1-12184_1-12177del) c.6347_6354del (p.Ser2116CysfsTer23) c.6893_6900del (p.Ser2298CysfsTer23) c.6710_6717del (p.Ser2237CysfsTer23) c.6431_6438del (p.Ser2144CysfsTer23) c.5474_5481del (p.Ser1825CysfsTer23) c.5465_5472del (p.Ser1822CysfsTer23) | |
5 | g.37052395T>A | CA443911374 | NIPBL | c.7092T>A (p.Ser2364=) n.974T>A c.1-12183T>A (n.1-12183T>A) c.6348T>A (p.Ser2116=) c.6894T>A (p.Ser2298=) c.6711T>A (p.Ser2237=) c.6432T>A (p.Ser2144=) c.5475T>A (p.Ser1825=) c.5466T>A (p.Ser1822=) | |
5 | g.37052395T>C | CA443911375 | NIPBL | c.7092T>C (p.Ser2364=) n.974T>C c.1-12183T>C (n.1-12183T>C) c.6348T>C (p.Ser2116=) c.6894T>C (p.Ser2298=) c.6711T>C (p.Ser2237=) c.6432T>C (p.Ser2144=) c.5475T>C (p.Ser1825=) c.5466T>C (p.Ser1822=) | |
5 | g.37052395T>G | CA443911378 | NIPBL | c.7092T>G (p.Ser2364=) n.974T>G c.1-12183T>G (n.1-12183T>G) c.6348T>G (p.Ser2116=) c.6894T>G (p.Ser2298=) c.6711T>G (p.Ser2237=) c.6432T>G (p.Ser2144=) c.5475T>G (p.Ser1825=) c.5466T>G (p.Ser1822=) | |
5 | g.37052396T>A | CA359511143 | NIPBL | c.7093T>A (p.Tyr2365Asn) n.975T>A c.1-12182T>A (n.1-12182T>A) c.6349T>A (p.Tyr2117Asn) c.6895T>A (p.Tyr2299Asn) c.6712T>A (p.Tyr2238Asn) c.6433T>A (p.Tyr2145Asn) c.5476T>A (p.Tyr1826Asn) c.5467T>A (p.Tyr1823Asn) | |
5 | g.37052396T>C | CA359511141 | NIPBL | c.7093T>C (p.Tyr2365His) n.975T>C c.1-12182T>C (n.1-12182T>C) c.6349T>C (p.Tyr2117His) c.6895T>C (p.Tyr2299His) c.6712T>C (p.Tyr2238His) c.6433T>C (p.Tyr2145His) c.5476T>C (p.Tyr1826His) c.5467T>C (p.Tyr1823His) | |
5 | g.37052396T>G | CA359511139 | NIPBL | c.7093T>G (p.Tyr2365Asp) n.975T>G c.1-12182T>G (n.1-12182T>G) c.6349T>G (p.Tyr2117Asp) c.6895T>G (p.Tyr2299Asp) c.6712T>G (p.Tyr2238Asp) c.6433T>G (p.Tyr2145Asp) c.5476T>G (p.Tyr1826Asp) c.5467T>G (p.Tyr1823Asp) | |
5 | g.37052396T= | CA1539572105 | NIPBL | c.7093T= (p.Tyr2365=) n.975T= c.1-12182T= (n.1-12182T=) c.6349T= (p.Tyr2117=) c.6895T= (p.Tyr2299=) c.6712T= (p.Tyr2238=) c.6433T= (p.Tyr2145=) c.5476T= (p.Tyr1826=) c.5467T= (p.Tyr1823=) | |
5 | g.37052397A>C | CA359511144 | NIPBL | c.7094A>C (p.Tyr2365Ser) n.976A>C c.1-12181A>C (n.1-12181A>C) c.6350A>C (p.Tyr2117Ser) c.6896A>C (p.Tyr2299Ser) c.6713A>C (p.Tyr2238Ser) c.6434A>C (p.Tyr2145Ser) c.5477A>C (p.Tyr1826Ser) c.5468A>C (p.Tyr1823Ser) | |
5 | g.37052397A>G | CA359511146 | NIPBL | c.7094A>G (p.Tyr2365Cys) n.976A>G c.1-12181A>G (n.1-12181A>G) c.6350A>G (p.Tyr2117Cys) c.6896A>G (p.Tyr2299Cys) c.6713A>G (p.Tyr2238Cys) c.6434A>G (p.Tyr2145Cys) c.5477A>G (p.Tyr1826Cys) c.5468A>G (p.Tyr1823Cys) | |
5 | g.37052397A>T | CA359511149 | NIPBL | c.7094A>T (p.Tyr2365Phe) n.976A>T c.1-12181A>T (n.1-12181A>T) c.6350A>T (p.Tyr2117Phe) c.6896A>T (p.Tyr2299Phe) c.6713A>T (p.Tyr2238Phe) c.6434A>T (p.Tyr2145Phe) c.5477A>T (p.Tyr1826Phe) c.5468A>T (p.Tyr1823Phe) | |
5 | g.37052397_37052420dup | CA810284540 | NIPBL | c.7094_7117dup (p.Asn2372_Thr2373insAsnGlnValGlnGlnAlaIleAsn) n.976_999dup c.1-12181_1-12158dup (n.1-12181_1-12158dup) c.6350_6373dup (p.Asn2124_Thr2125insAsnGlnValGlnGlnAlaIleAsn) c.6896_6919dup (p.Asn2306_Thr2307insAsnGlnValGlnGlnAlaIleAsn) c.6713_6736dup (p.Asn2245_Thr2246insAsnGlnValGlnGlnAlaIleAsn) c.6434_6457dup (p.Asn2152_Thr2153insAsnGlnValGlnGlnAlaIleAsn) c.5477_5500dup (p.Asn1833_Thr1834insAsnGlnValGlnGlnAlaIleAsn) c.5468_5491dup (p.Asn1830_Thr1831insAsnGlnValGlnGlnAlaIleAsn) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37052398C>A | CA359511152 | NIPBL | c.7095C>A (p.Tyr2365Ter) n.977C>A c.1-12180C>A (n.1-12180C>A) c.6351C>A (p.Tyr2117Ter) c.6897C>A (p.Tyr2299Ter) c.6714C>A (p.Tyr2238Ter) c.6435C>A (p.Tyr2145Ter) c.5478C>A (p.Tyr1826Ter) c.5469C>A (p.Tyr1823Ter) | |
5 | g.37052398C>G | CA359511154 | NIPBL | c.7095C>G (p.Tyr2365Ter) n.977C>G c.1-12180C>G (n.1-12180C>G) c.6351C>G (p.Tyr2117Ter) c.6897C>G (p.Tyr2299Ter) c.6714C>G (p.Tyr2238Ter) c.6435C>G (p.Tyr2145Ter) c.5478C>G (p.Tyr1826Ter) c.5469C>G (p.Tyr1823Ter) | |
5 | g.37052398C>T | CA443911393 | NIPBL | c.7095C>T (p.Tyr2365=) n.977C>T c.1-12180C>T (n.1-12180C>T) c.6351C>T (p.Tyr2117=) c.6897C>T (p.Tyr2299=) c.6714C>T (p.Tyr2238=) c.6435C>T (p.Tyr2145=) c.5478C>T (p.Tyr1826=) c.5469C>T (p.Tyr1823=) | |
5 | g.37052399C>A | CA359511158 | NIPBL | c.7096C>A (p.Gln2366Lys) n.978C>A c.1-12179C>A (n.1-12179C>A) c.6352C>A (p.Gln2118Lys) c.6898C>A (p.Gln2300Lys) c.6715C>A (p.Gln2239Lys) c.6436C>A (p.Gln2146Lys) c.5479C>A (p.Gln1827Lys) c.5470C>A (p.Gln1824Lys) | |
5 | g.37052399C>G | CA359511160 | NIPBL | c.7096C>G (p.Gln2366Glu) n.978C>G c.1-12179C>G (n.1-12179C>G) c.6352C>G (p.Gln2118Glu) c.6898C>G (p.Gln2300Glu) c.6715C>G (p.Gln2239Glu) c.6436C>G (p.Gln2146Glu) c.5479C>G (p.Gln1827Glu) c.5470C>G (p.Gln1824Glu) | |
5 | g.37052399C>T | CA359511162 | NIPBL | c.7096C>T (p.Gln2366Ter) n.978C>T c.1-12179C>T (n.1-12179C>T) c.6352C>T (p.Gln2118Ter) c.6898C>T (p.Gln2300Ter) c.6715C>T (p.Gln2239Ter) c.6436C>T (p.Gln2146Ter) c.5479C>T (p.Gln1827Ter) c.5470C>T (p.Gln1824Ter) | |
5 | g.37052400A= | CA1539572117 | NIPBL | c.7097A= (p.Gln2366=) n.979A= c.1-12178A= (n.1-12178A=) c.6353A= (p.Gln2118=) c.6899A= (p.Gln2300=) c.6716A= (p.Gln2239=) c.6437A= (p.Gln2146=) c.5480A= (p.Gln1827=) c.5471A= (p.Gln1824=) | |
5 | g.37052400A>C | CA359511163 | NIPBL | c.7097A>C (p.Gln2366Pro) n.979A>C c.1-12178A>C (n.1-12178A>C) c.6353A>C (p.Gln2118Pro) c.6899A>C (p.Gln2300Pro) c.6716A>C (p.Gln2239Pro) c.6437A>C (p.Gln2146Pro) c.5480A>C (p.Gln1827Pro) c.5471A>C (p.Gln1824Pro) | ClinVar |
5 | g.37052400A>G | CA3237139 | NIPBL | c.7097A>G (p.Gln2366Arg) n.979A>G c.1-12178A>G (n.1-12178A>G) c.6353A>G (p.Gln2118Arg) c.6899A>G (p.Gln2300Arg) c.6716A>G (p.Gln2239Arg) c.6437A>G (p.Gln2146Arg) c.5480A>G (p.Gln1827Arg) c.5471A>G (p.Gln1824Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052400A>T | CA359511165 | NIPBL | c.7097A>T (p.Gln2366Leu) n.979A>T c.1-12178A>T (n.1-12178A>T) c.6353A>T (p.Gln2118Leu) c.6899A>T (p.Gln2300Leu) c.6716A>T (p.Gln2239Leu) c.6437A>T (p.Gln2146Leu) c.5480A>T (p.Gln1827Leu) c.5471A>T (p.Gln1824Leu) | dbSNP |
5 | g.37052401G>A | CA117051473 | NIPBL | c.7098G>A (p.Gln2366=) n.980G>A c.1-12177G>A (n.1-12177G>A) c.6354G>A (p.Gln2118=) c.6900G>A (p.Gln2300=) c.6717G>A (p.Gln2239=) c.6438G>A (p.Gln2146=) c.5481G>A (p.Gln1827=) c.5472G>A (p.Gln1824=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052401G>C | CA359511167 | NIPBL | c.7098G>C (p.Gln2366His) n.980G>C c.1-12177G>C (n.1-12177G>C) c.6354G>C (p.Gln2118His) c.6900G>C (p.Gln2300His) c.6717G>C (p.Gln2239His) c.6438G>C (p.Gln2146His) c.5481G>C (p.Gln1827His) c.5472G>C (p.Gln1824His) | |
5 | g.37052401G= | CA1539572124 | NIPBL | c.7098G= (p.Gln2366=) n.980G= c.1-12177G= (n.1-12177G=) c.6354G= (p.Gln2118=) c.6900G= (p.Gln2300=) c.6717G= (p.Gln2239=) c.6438G= (p.Gln2146=) c.5481G= (p.Gln1827=) c.5472G= (p.Gln1824=) | |
5 | g.37052401G>T | CA359511169 | NIPBL | c.7098G>T (p.Gln2366His) n.980G>T c.1-12177G>T (n.1-12177G>T) c.6354G>T (p.Gln2118His) c.6900G>T (p.Gln2300His) c.6717G>T (p.Gln2239His) c.6438G>T (p.Gln2146His) c.5481G>T (p.Gln1827His) c.5472G>T (p.Gln1824His) | COSMIC |
5 | g.37052402G>A | CA359511179 | NIPBL | c.7099G>A (p.Val2367Ile) n.981G>A c.1-12176G>A (n.1-12176G>A) c.6355G>A (p.Val2119Ile) c.6901G>A (p.Val2301Ile) c.6718G>A (p.Val2240Ile) c.6439G>A (p.Val2147Ile) c.5482G>A (p.Val1828Ile) c.5473G>A (p.Val1825Ile) | |
5 | g.37052402G>C | CA359511177 | NIPBL | c.7099G>C (p.Val2367Leu) n.981G>C c.1-12176G>C (n.1-12176G>C) c.6355G>C (p.Val2119Leu) c.6901G>C (p.Val2301Leu) c.6718G>C (p.Val2240Leu) c.6439G>C (p.Val2147Leu) c.5482G>C (p.Val1828Leu) c.5473G>C (p.Val1825Leu) | |
5 | g.37052402G>T | CA359511173 | NIPBL | c.7099G>T (p.Val2367Leu) n.981G>T c.1-12176G>T (n.1-12176G>T) c.6355G>T (p.Val2119Leu) c.6901G>T (p.Val2301Leu) c.6718G>T (p.Val2240Leu) c.6439G>T (p.Val2147Leu) c.5482G>T (p.Val1828Leu) c.5473G>T (p.Val1825Leu) | |
5 | g.37052403T>A | CA359511181 | NIPBL | c.7100T>A (p.Val2367Glu) n.982T>A c.1-12175T>A (n.1-12175T>A) c.6356T>A (p.Val2119Glu) c.6902T>A (p.Val2301Glu) c.6719T>A (p.Val2240Glu) c.6440T>A (p.Val2147Glu) c.5483T>A (p.Val1828Glu) c.5474T>A (p.Val1825Glu) | |
5 | g.37052403T>C | CA359511189 | NIPBL | c.7100T>C (p.Val2367Ala) n.982T>C c.1-12175T>C (n.1-12175T>C) c.6356T>C (p.Val2119Ala) c.6902T>C (p.Val2301Ala) c.6719T>C (p.Val2240Ala) c.6440T>C (p.Val2147Ala) c.5483T>C (p.Val1828Ala) c.5474T>C (p.Val1825Ala) | COSMIC COSMIC |
5 | g.37052403T>G | CA359511191 | NIPBL | c.7100T>G (p.Val2367Gly) n.982T>G c.1-12175T>G (n.1-12175T>G) c.6356T>G (p.Val2119Gly) c.6902T>G (p.Val2301Gly) c.6719T>G (p.Val2240Gly) c.6440T>G (p.Val2147Gly) c.5483T>G (p.Val1828Gly) c.5474T>G (p.Val1825Gly) | dbSNP |
5 | g.37052403T= | CA1539572135 | NIPBL | c.7100T= (p.Val2367=) n.982T= c.1-12175T= (n.1-12175T=) c.6356T= (p.Val2119=) c.6902T= (p.Val2301=) c.6719T= (p.Val2240=) c.6440T= (p.Val2147=) c.5483T= (p.Val1828=) c.5474T= (p.Val1825=) | |
5 | g.37052404A>C | CA443911420 | NIPBL | c.7101A>C (p.Val2367=) n.983A>C c.1-12174A>C (n.1-12174A>C) c.6357A>C (p.Val2119=) c.6903A>C (p.Val2301=) c.6720A>C (p.Val2240=) c.6441A>C (p.Val2147=) c.5484A>C (p.Val1828=) c.5475A>C (p.Val1825=) | |
5 | g.37052404A>G | CA443911425 | NIPBL | c.7101A>G (p.Val2367=) n.983A>G c.1-12174A>G (n.1-12174A>G) c.6357A>G (p.Val2119=) c.6903A>G (p.Val2301=) c.6720A>G (p.Val2240=) c.6441A>G (p.Val2147=) c.5484A>G (p.Val1828=) c.5475A>G (p.Val1825=) | |
5 | g.37052404A>T | CA443911422 | NIPBL | c.7101A>T (p.Val2367=) n.983A>T c.1-12174A>T (n.1-12174A>T) c.6357A>T (p.Val2119=) c.6903A>T (p.Val2301=) c.6720A>T (p.Val2240=) c.6441A>T (p.Val2147=) c.5484A>T (p.Val1828=) c.5475A>T (p.Val1825=) | |
5 | g.37052405C>A | CA359511195 | NIPBL | c.7102C>A (p.Gln2368Lys) n.984C>A c.1-12173C>A (n.1-12173C>A) c.6358C>A (p.Gln2120Lys) c.6904C>A (p.Gln2302Lys) c.6721C>A (p.Gln2241Lys) c.6442C>A (p.Gln2148Lys) c.5485C>A (p.Gln1829Lys) c.5476C>A (p.Gln1826Lys) | |
5 | g.37052405C= | CA1539572140 | NIPBL | c.7102C= (p.Gln2368=) n.984C= c.1-12173C= (n.1-12173C=) c.6358C= (p.Gln2120=) c.6904C= (p.Gln2302=) c.6721C= (p.Gln2241=) c.6442C= (p.Gln2148=) c.5485C= (p.Gln1829=) c.5476C= (p.Gln1826=) | |
5 | g.37052405C>G | CA359511197 | NIPBL | c.7102C>G (p.Gln2368Glu) n.984C>G c.1-12173C>G (n.1-12173C>G) c.6358C>G (p.Gln2120Glu) c.6904C>G (p.Gln2302Glu) c.6721C>G (p.Gln2241Glu) c.6442C>G (p.Gln2148Glu) c.5485C>G (p.Gln1829Glu) c.5476C>G (p.Gln1826Glu) | |
5 | g.37052405C>T | CA272285 | NIPBL | c.7102C>T (p.Gln2368Ter) n.984C>T c.1-12173C>T (n.1-12173C>T) c.6358C>T (p.Gln2120Ter) c.6904C>T (p.Gln2302Ter) c.6721C>T (p.Gln2241Ter) c.6442C>T (p.Gln2148Ter) c.5485C>T (p.Gln1829Ter) c.5476C>T (p.Gln1826Ter) | ClinVar dbSNP |
5 | g.37052406A>C | CA359511201 | NIPBL | c.7103A>C (p.Gln2368Pro) n.985A>C c.1-12172A>C (n.1-12172A>C) c.6359A>C (p.Gln2120Pro) c.6905A>C (p.Gln2302Pro) c.6722A>C (p.Gln2241Pro) c.6443A>C (p.Gln2148Pro) c.5486A>C (p.Gln1829Pro) c.5477A>C (p.Gln1826Pro) | |
5 | g.37052406A>G | CA359511204 | NIPBL | c.7103A>G (p.Gln2368Arg) n.985A>G c.1-12172A>G (n.1-12172A>G) c.6359A>G (p.Gln2120Arg) c.6905A>G (p.Gln2302Arg) c.6722A>G (p.Gln2241Arg) c.6443A>G (p.Gln2148Arg) c.5486A>G (p.Gln1829Arg) c.5477A>G (p.Gln1826Arg) | |
5 | g.37052406A>T | CA359511207 | NIPBL | c.7103A>T (p.Gln2368Leu) n.985A>T c.1-12172A>T (n.1-12172A>T) c.6359A>T (p.Gln2120Leu) c.6905A>T (p.Gln2302Leu) c.6722A>T (p.Gln2241Leu) c.6443A>T (p.Gln2148Leu) c.5486A>T (p.Gln1829Leu) c.5477A>T (p.Gln1826Leu) | |
5 | g.37052407A= | CA1539572148 | NIPBL | c.7104A= (p.Gln2368=) n.986A= c.1-12171A= (n.1-12171A=) c.6360A= (p.Gln2120=) c.6906A= (p.Gln2302=) c.6723A= (p.Gln2241=) c.6444A= (p.Gln2148=) c.5487A= (p.Gln1829=) c.5478A= (p.Gln1826=) | |
5 | g.37052407A>C | CA359511210 | NIPBL | c.7104A>C (p.Gln2368His) n.986A>C c.1-12171A>C (n.1-12171A>C) c.6360A>C (p.Gln2120His) c.6906A>C (p.Gln2302His) c.6723A>C (p.Gln2241His) c.6444A>C (p.Gln2148His) c.5487A>C (p.Gln1829His) c.5478A>C (p.Gln1826His) | |
5 | g.37052407A>G | CA443911439 | NIPBL | c.7104A>G (p.Gln2368=) n.986A>G c.1-12171A>G (n.1-12171A>G) c.6360A>G (p.Gln2120=) c.6906A>G (p.Gln2302=) c.6723A>G (p.Gln2241=) c.6444A>G (p.Gln2148=) c.5487A>G (p.Gln1829=) c.5478A>G (p.Gln1826=) | dbSNP gnomAD v4 |
5 | g.37052407A>T | CA359511212 | NIPBL | c.7104A>T (p.Gln2368His) n.986A>T c.1-12171A>T (n.1-12171A>T) c.6360A>T (p.Gln2120His) c.6906A>T (p.Gln2302His) c.6723A>T (p.Gln2241His) c.6444A>T (p.Gln2148His) c.5487A>T (p.Gln1829His) c.5478A>T (p.Gln1826His) | |
5 | g.37052408C>A | CA359511213 | NIPBL | c.7105C>A (p.Gln2369Lys) n.987C>A c.1-12170C>A (n.1-12170C>A) c.6361C>A (p.Gln2121Lys) c.6907C>A (p.Gln2303Lys) c.6724C>A (p.Gln2242Lys) c.6445C>A (p.Gln2149Lys) c.5488C>A (p.Gln1830Lys) c.5479C>A (p.Gln1827Lys) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37052408C= | CA1539572152 | NIPBL | c.7105C= (p.Gln2369=) n.987C= c.1-12170C= (n.1-12170C=) c.6361C= (p.Gln2121=) c.6907C= (p.Gln2303=) c.6724C= (p.Gln2242=) c.6445C= (p.Gln2149=) c.5488C= (p.Gln1830=) c.5479C= (p.Gln1827=) | |
5 | g.37052408C>G | CA359511215 | NIPBL | c.7105C>G (p.Gln2369Glu) n.987C>G c.1-12170C>G (n.1-12170C>G) c.6361C>G (p.Gln2121Glu) c.6907C>G (p.Gln2303Glu) c.6724C>G (p.Gln2242Glu) c.6445C>G (p.Gln2149Glu) c.5488C>G (p.Gln1830Glu) c.5479C>G (p.Gln1827Glu) | |
5 | g.37052408C>T | CA359511216 | NIPBL | c.7105C>T (p.Gln2369Ter) n.987C>T c.1-12170C>T (n.1-12170C>T) c.6361C>T (p.Gln2121Ter) c.6907C>T (p.Gln2303Ter) c.6724C>T (p.Gln2242Ter) c.6445C>T (p.Gln2149Ter) c.5488C>T (p.Gln1830Ter) c.5479C>T (p.Gln1827Ter) | |
5 | g.37052408_37052409delinsCA | CA1539572154 | NIPBL | c.7105_7106delinsCA (p.Gln2369=) n.987_988delinsCA c.1-12170_1-12169delinsCA (n.1-12170_1-12169delinsCA) c.6361_6362delinsCA (p.Gln2121=) c.6907_6908delinsCA (p.Gln2303=) c.6724_6725delinsCA (p.Gln2242=) c.6445_6446delinsCA (p.Gln2149=) c.5488_5489delinsCA (p.Gln1830=) c.5479_5480delinsCA (p.Gln1827=) | |
5 | g.37052409del | CA272288 | NIPBL | c.7106del (p.Gln2369ArgfsTer7) n.988del c.1-12169del (n.1-12169del) c.6362del (p.Gln2121ArgfsTer7) c.6908del (p.Gln2303ArgfsTer7) c.6725del (p.Gln2242ArgfsTer7) c.6446del (p.Gln2149ArgfsTer7) c.5489del (p.Gln1830ArgfsTer7) c.5480del (p.Gln1827ArgfsTer7) | ClinVar dbSNP |
5 | g.37052409A>C | CA359511224 | NIPBL | c.7106A>C (p.Gln2369Pro) n.988A>C c.1-12169A>C (n.1-12169A>C) c.6362A>C (p.Gln2121Pro) c.6908A>C (p.Gln2303Pro) c.6725A>C (p.Gln2242Pro) c.6446A>C (p.Gln2149Pro) c.5489A>C (p.Gln1830Pro) c.5480A>C (p.Gln1827Pro) | |
5 | g.37052409A>G | CA359511228 | NIPBL | c.7106A>G (p.Gln2369Arg) n.988A>G c.1-12169A>G (n.1-12169A>G) c.6362A>G (p.Gln2121Arg) c.6908A>G (p.Gln2303Arg) c.6725A>G (p.Gln2242Arg) c.6446A>G (p.Gln2149Arg) c.5489A>G (p.Gln1830Arg) c.5480A>G (p.Gln1827Arg) | |
5 | g.37052409A>T | CA359511230 | NIPBL | c.7106A>T (p.Gln2369Leu) n.988A>T c.1-12169A>T (n.1-12169A>T) c.6362A>T (p.Gln2121Leu) c.6908A>T (p.Gln2303Leu) c.6725A>T (p.Gln2242Leu) c.6446A>T (p.Gln2149Leu) c.5489A>T (p.Gln1830Leu) c.5480A>T (p.Gln1827Leu) | |
5 | g.37052410G>A | CA443911457 | NIPBL | c.7107G>A (p.Gln2369=) n.989G>A c.1-12168G>A (n.1-12168G>A) c.6363G>A (p.Gln2121=) c.6909G>A (p.Gln2303=) c.6726G>A (p.Gln2242=) c.6447G>A (p.Gln2149=) c.5490G>A (p.Gln1830=) c.5481G>A (p.Gln1827=) | |
5 | g.37052410G>C | CA359511231 | NIPBL | c.7107G>C (p.Gln2369His) n.989G>C c.1-12168G>C (n.1-12168G>C) c.6363G>C (p.Gln2121His) c.6909G>C (p.Gln2303His) c.6726G>C (p.Gln2242His) c.6447G>C (p.Gln2149His) c.5490G>C (p.Gln1830His) c.5481G>C (p.Gln1827His) | |
5 | g.37052410G>T | CA359511232 | NIPBL | c.7107G>T (p.Gln2369His) n.989G>T c.1-12168G>T (n.1-12168G>T) c.6363G>T (p.Gln2121His) c.6909G>T (p.Gln2303His) c.6726G>T (p.Gln2242His) c.6447G>T (p.Gln2149His) c.5490G>T (p.Gln1830His) c.5481G>T (p.Gln1827His) | |
5 | g.37052411G>A | CA359511234 | NIPBL | c.7108G>A (p.Ala2370Thr) n.990G>A c.1-12167G>A (n.1-12167G>A) c.6364G>A (p.Ala2122Thr) c.6910G>A (p.Ala2304Thr) c.6727G>A (p.Ala2243Thr) c.6448G>A (p.Ala2150Thr) c.5491G>A (p.Ala1831Thr) c.5482G>A (p.Ala1828Thr) | |
5 | g.37052411G>C | CA359511237 | NIPBL | c.7108G>C (p.Ala2370Pro) n.990G>C c.1-12167G>C (n.1-12167G>C) c.6364G>C (p.Ala2122Pro) c.6910G>C (p.Ala2304Pro) c.6727G>C (p.Ala2243Pro) c.6448G>C (p.Ala2150Pro) c.5491G>C (p.Ala1831Pro) c.5482G>C (p.Ala1828Pro) | |
5 | g.37052411G>T | CA359511239 | NIPBL | c.7108G>T (p.Ala2370Ser) n.990G>T c.1-12167G>T (n.1-12167G>T) c.6364G>T (p.Ala2122Ser) c.6910G>T (p.Ala2304Ser) c.6727G>T (p.Ala2243Ser) c.6448G>T (p.Ala2150Ser) c.5491G>T (p.Ala1831Ser) c.5482G>T (p.Ala1828Ser) | gnomAD v4 |
5 | g.37052412C>A | CA359511240 | NIPBL | c.7109C>A (p.Ala2370Glu) n.991C>A c.1-12166C>A (n.1-12166C>A) c.6365C>A (p.Ala2122Glu) c.6911C>A (p.Ala2304Glu) c.6728C>A (p.Ala2243Glu) c.6449C>A (p.Ala2150Glu) c.5492C>A (p.Ala1831Glu) c.5483C>A (p.Ala1828Glu) | |
5 | g.37052412C>G | CA359511242 | NIPBL | c.7109C>G (p.Ala2370Gly) n.991C>G c.1-12166C>G (n.1-12166C>G) c.6365C>G (p.Ala2122Gly) c.6911C>G (p.Ala2304Gly) c.6728C>G (p.Ala2243Gly) c.6449C>G (p.Ala2150Gly) c.5492C>G (p.Ala1831Gly) c.5483C>G (p.Ala1828Gly) | |
5 | g.37052412C>T | CA359511245 | NIPBL | c.7109C>T (p.Ala2370Val) n.991C>T c.1-12166C>T (n.1-12166C>T) c.6365C>T (p.Ala2122Val) c.6911C>T (p.Ala2304Val) c.6728C>T (p.Ala2243Val) c.6449C>T (p.Ala2150Val) c.5492C>T (p.Ala1831Val) c.5483C>T (p.Ala1828Val) | |
5 | g.37052413A>C | CA443911476 | NIPBL | c.7110A>C (p.Ala2370=) n.992A>C c.1-12165A>C (n.1-12165A>C) c.6366A>C (p.Ala2122=) c.6912A>C (p.Ala2304=) c.6729A>C (p.Ala2243=) c.6450A>C (p.Ala2150=) c.5493A>C (p.Ala1831=) c.5484A>C (p.Ala1828=) | |
5 | g.37052413A>G | CA443911478 | NIPBL | c.7110A>G (p.Ala2370=) n.992A>G c.1-12165A>G (n.1-12165A>G) c.6366A>G (p.Ala2122=) c.6912A>G (p.Ala2304=) c.6729A>G (p.Ala2243=) c.6450A>G (p.Ala2150=) c.5493A>G (p.Ala1831=) c.5484A>G (p.Ala1828=) | gnomAD v4 |
5 | g.37052413A>T | CA443911474 | NIPBL | c.7110A>T (p.Ala2370=) n.992A>T c.1-12165A>T (n.1-12165A>T) c.6366A>T (p.Ala2122=) c.6912A>T (p.Ala2304=) c.6729A>T (p.Ala2243=) c.6450A>T (p.Ala2150=) c.5493A>T (p.Ala1831=) c.5484A>T (p.Ala1828=) | |
5 | g.37052414A= | CA1539572167 | NIPBL | c.7111A= (p.Ile2371=) n.993A= c.1-12164A= (n.1-12164A=) c.6367A= (p.Ile2123=) c.6913A= (p.Ile2305=) c.6730A= (p.Ile2244=) c.6451A= (p.Ile2151=) c.5494A= (p.Ile1832=) c.5485A= (p.Ile1829=) | |
5 | g.37052414A>C | CA359511248 | NIPBL | c.7111A>C (p.Ile2371Leu) n.993A>C c.1-12164A>C (n.1-12164A>C) c.6367A>C (p.Ile2123Leu) c.6913A>C (p.Ile2305Leu) c.6730A>C (p.Ile2244Leu) c.6451A>C (p.Ile2151Leu) c.5494A>C (p.Ile1832Leu) c.5485A>C (p.Ile1829Leu) | |
5 | g.37052414A>G | CA3237140 | NIPBL | c.7111A>G (p.Ile2371Val) n.993A>G c.1-12164A>G (n.1-12164A>G) c.6367A>G (p.Ile2123Val) c.6913A>G (p.Ile2305Val) c.6730A>G (p.Ile2244Val) c.6451A>G (p.Ile2151Val) c.5494A>G (p.Ile1832Val) c.5485A>G (p.Ile1829Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.37052414A>T | CA359511250 | NIPBL | c.7111A>T (p.Ile2371Phe) n.993A>T c.1-12164A>T (n.1-12164A>T) c.6367A>T (p.Ile2123Phe) c.6913A>T (p.Ile2305Phe) c.6730A>T (p.Ile2244Phe) c.6451A>T (p.Ile2151Phe) c.5494A>T (p.Ile1832Phe) c.5485A>T (p.Ile1829Phe) | |
5 | g.37052415T>A | CA359511254 | NIPBL | c.7112T>A (p.Ile2371Asn) n.994T>A c.1-12163T>A (n.1-12163T>A) c.6368T>A (p.Ile2123Asn) c.6914T>A (p.Ile2305Asn) c.6731T>A (p.Ile2244Asn) c.6452T>A (p.Ile2151Asn) c.5495T>A (p.Ile1832Asn) c.5486T>A (p.Ile1829Asn) | |
5 | g.37052415T>C | CA359511251 | NIPBL | c.7112T>C (p.Ile2371Thr) n.994T>C c.1-12163T>C (n.1-12163T>C) c.6368T>C (p.Ile2123Thr) c.6914T>C (p.Ile2305Thr) c.6731T>C (p.Ile2244Thr) c.6452T>C (p.Ile2151Thr) c.5495T>C (p.Ile1832Thr) c.5486T>C (p.Ile1829Thr) | |
5 | g.37052415T>G | CA359511253 | NIPBL | c.7112T>G (p.Ile2371Ser) n.994T>G c.1-12163T>G (n.1-12163T>G) c.6368T>G (p.Ile2123Ser) c.6914T>G (p.Ile2305Ser) c.6731T>G (p.Ile2244Ser) c.6452T>G (p.Ile2151Ser) c.5495T>G (p.Ile1832Ser) c.5486T>G (p.Ile1829Ser) | |
5 | g.37052416C>A | CA443911491 | NIPBL | c.7113C>A (p.Ile2371=) n.995C>A c.1-12162C>A (n.1-12162C>A) c.6369C>A (p.Ile2123=) c.6915C>A (p.Ile2305=) c.6732C>A (p.Ile2244=) c.6453C>A (p.Ile2151=) c.5496C>A (p.Ile1832=) c.5487C>A (p.Ile1829=) | COSMIC COSMIC |
5 | g.37052416C= | CA1539572170 | NIPBL | c.7113C= (p.Ile2371=) n.995C= c.1-12162C= (n.1-12162C=) c.6369C= (p.Ile2123=) c.6915C= (p.Ile2305=) c.6732C= (p.Ile2244=) c.6453C= (p.Ile2151=) c.5496C= (p.Ile1832=) c.5487C= (p.Ile1829=) | |
5 | g.37052416C>G | CA359511255 | NIPBL | c.7113C>G (p.Ile2371Met) n.995C>G c.1-12162C>G (n.1-12162C>G) c.6369C>G (p.Ile2123Met) c.6915C>G (p.Ile2305Met) c.6732C>G (p.Ile2244Met) c.6453C>G (p.Ile2151Met) c.5496C>G (p.Ile1832Met) c.5487C>G (p.Ile1829Met) | |
5 | g.37052416C>T | CA443911494 | NIPBL | c.7113C>T (p.Ile2371=) n.995C>T c.1-12162C>T (n.1-12162C>T) c.6369C>T (p.Ile2123=) c.6915C>T (p.Ile2305=) c.6732C>T (p.Ile2244=) c.6453C>T (p.Ile2151=) c.5496C>T (p.Ile1832=) c.5487C>T (p.Ile1829=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37052417A>C | CA359511258 | NIPBL | c.7114A>C (p.Asn2372His) n.996A>C c.1-12161A>C (n.1-12161A>C) c.6370A>C (p.Asn2124His) c.6916A>C (p.Asn2306His) c.6733A>C (p.Asn2245His) c.6454A>C (p.Asn2152His) c.5497A>C (p.Asn1833His) c.5488A>C (p.Asn1830His) | |
5 | g.37052417A>G | CA359511261 | NIPBL | c.7114A>G (p.Asn2372Asp) n.996A>G c.1-12161A>G (n.1-12161A>G) c.6370A>G (p.Asn2124Asp) c.6916A>G (p.Asn2306Asp) c.6733A>G (p.Asn2245Asp) c.6454A>G (p.Asn2152Asp) c.5497A>G (p.Asn1833Asp) c.5488A>G (p.Asn1830Asp) | |
5 | g.37052417A>T | CA359511262 | NIPBL | c.7114A>T (p.Asn2372Tyr) n.996A>T c.1-12161A>T (n.1-12161A>T) c.6370A>T (p.Asn2124Tyr) c.6916A>T (p.Asn2306Tyr) c.6733A>T (p.Asn2245Tyr) c.6454A>T (p.Asn2152Tyr) c.5497A>T (p.Asn1833Tyr) c.5488A>T (p.Asn1830Tyr) | |
5 | g.37052418A>C | CA359511265 | NIPBL | c.7115A>C (p.Asn2372Thr) n.997A>C c.1-12160A>C (n.1-12160A>C) c.6371A>C (p.Asn2124Thr) c.6917A>C (p.Asn2306Thr) c.6734A>C (p.Asn2245Thr) c.6455A>C (p.Asn2152Thr) c.5498A>C (p.Asn1833Thr) c.5489A>C (p.Asn1830Thr) | |
5 | g.37052418A>G | CA359511266 | NIPBL | c.7115A>G (p.Asn2372Ser) n.997A>G c.1-12160A>G (n.1-12160A>G) c.6371A>G (p.Asn2124Ser) c.6917A>G (p.Asn2306Ser) c.6734A>G (p.Asn2245Ser) c.6455A>G (p.Asn2152Ser) c.5498A>G (p.Asn1833Ser) c.5489A>G (p.Asn1830Ser) | |
5 | g.37052418A>T | CA359511268 | NIPBL | c.7115A>T (p.Asn2372Ile) n.997A>T c.1-12160A>T (n.1-12160A>T) c.6371A>T (p.Asn2124Ile) c.6917A>T (p.Asn2306Ile) c.6734A>T (p.Asn2245Ile) c.6455A>T (p.Asn2152Ile) c.5498A>T (p.Asn1833Ile) c.5489A>T (p.Asn1830Ile) | |
5 | g.37052419C>A | CA359511272 | NIPBL | c.7116C>A (p.Asn2372Lys) n.998C>A c.1-12159C>A (n.1-12159C>A) c.6372C>A (p.Asn2124Lys) c.6918C>A (p.Asn2306Lys) c.6735C>A (p.Asn2245Lys) c.6456C>A (p.Asn2152Lys) c.5499C>A (p.Asn1833Lys) c.5490C>A (p.Asn1830Lys) | |
5 | g.37052419C>G | CA359511274 | NIPBL | c.7116C>G (p.Asn2372Lys) n.998C>G c.1-12159C>G (n.1-12159C>G) c.6372C>G (p.Asn2124Lys) c.6918C>G (p.Asn2306Lys) c.6735C>G (p.Asn2245Lys) c.6456C>G (p.Asn2152Lys) c.5499C>G (p.Asn1833Lys) c.5490C>G (p.Asn1830Lys) | |
5 | g.37052419C>T | CA443911510 | NIPBL | c.7116C>T (p.Asn2372=) n.998C>T c.1-12159C>T (n.1-12159C>T) c.6372C>T (p.Asn2124=) c.6918C>T (p.Asn2306=) c.6735C>T (p.Asn2245=) c.6456C>T (p.Asn2152=) c.5499C>T (p.Asn1833=) c.5490C>T (p.Asn1830=) | gnomAD v4 |
5 | g.37052420A= | CA1539572173 | NIPBL | c.7117A= (p.Thr2373=) n.999A= c.1-12158A= (n.1-12158A=) c.6373A= (p.Thr2125=) c.6919A= (p.Thr2307=) c.6736A= (p.Thr2246=) c.6457A= (p.Thr2153=) c.5500A= (p.Thr1834=) c.5491A= (p.Thr1831=) | |
5 | g.37052420A>C | CA359511275 | NIPBL | c.7117A>C (p.Thr2373Pro) n.999A>C c.1-12158A>C (n.1-12158A>C) c.6373A>C (p.Thr2125Pro) c.6919A>C (p.Thr2307Pro) c.6736A>C (p.Thr2246Pro) c.6457A>C (p.Thr2153Pro) c.5500A>C (p.Thr1834Pro) c.5491A>C (p.Thr1831Pro) | |
5 | g.37052420A>G | CA3237141 | NIPBL | c.7117A>G (p.Thr2373Ala) n.999A>G c.1-12158A>G (n.1-12158A>G) c.6373A>G (p.Thr2125Ala) c.6919A>G (p.Thr2307Ala) c.6736A>G (p.Thr2246Ala) c.6457A>G (p.Thr2153Ala) c.5500A>G (p.Thr1834Ala) c.5491A>G (p.Thr1831Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052420A>T | CA359511280 | NIPBL | c.7117A>T (p.Thr2373Ser) n.999A>T c.1-12158A>T (n.1-12158A>T) c.6373A>T (p.Thr2125Ser) c.6919A>T (p.Thr2307Ser) c.6736A>T (p.Thr2246Ser) c.6457A>T (p.Thr2153Ser) c.5500A>T (p.Thr1834Ser) c.5491A>T (p.Thr1831Ser) | |
5 | g.37052421C>A | CA359511285 | NIPBL | c.7118C>A (p.Thr2373Lys) n.1000C>A c.1-12157C>A (n.1-12157C>A) c.6374C>A (p.Thr2125Lys) c.6920C>A (p.Thr2307Lys) c.6737C>A (p.Thr2246Lys) c.6458C>A (p.Thr2153Lys) c.5501C>A (p.Thr1834Lys) c.5492C>A (p.Thr1831Lys) | |
5 | g.37052421C= | CA1539572181 | NIPBL | c.7118C= (p.Thr2373=) n.1000C= c.1-12157C= (n.1-12157C=) c.6374C= (p.Thr2125=) c.6920C= (p.Thr2307=) c.6737C= (p.Thr2246=) c.6458C= (p.Thr2153=) c.5501C= (p.Thr1834=) c.5492C= (p.Thr1831=) | |
5 | g.37052421C>G | CA359511284 | NIPBL | c.7118C>G (p.Thr2373Arg) n.1000C>G c.1-12157C>G (n.1-12157C>G) c.6374C>G (p.Thr2125Arg) c.6920C>G (p.Thr2307Arg) c.6737C>G (p.Thr2246Arg) c.6458C>G (p.Thr2153Arg) c.5501C>G (p.Thr1834Arg) c.5492C>G (p.Thr1831Arg) | |
5 | g.37052421C>T | CA3237142 | NIPBL | c.7118C>T (p.Thr2373Ile) n.1000C>T c.1-12157C>T (n.1-12157C>T) c.6374C>T (p.Thr2125Ile) c.6920C>T (p.Thr2307Ile) c.6737C>T (p.Thr2246Ile) c.6458C>T (p.Thr2153Ile) c.5501C>T (p.Thr1834Ile) c.5492C>T (p.Thr1831Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052422A= | CA1539572187 | NIPBL | c.7119A= (p.Thr2373=) n.1001A= c.1-12156A= (n.1-12156A=) c.6375A= (p.Thr2125=) c.6921A= (p.Thr2307=) c.6738A= (p.Thr2246=) c.6459A= (p.Thr2153=) c.5502A= (p.Thr1834=) c.5493A= (p.Thr1831=) | |
5 | g.37052422A>C | CA443911522 | NIPBL | c.7119A>C (p.Thr2373=) n.1001A>C c.1-12156A>C (n.1-12156A>C) c.6375A>C (p.Thr2125=) c.6921A>C (p.Thr2307=) c.6738A>C (p.Thr2246=) c.6459A>C (p.Thr2153=) c.5502A>C (p.Thr1834=) c.5493A>C (p.Thr1831=) | |
5 | g.37052422A>G | CA3237143 | NIPBL | c.7119A>G (p.Thr2373=) n.1001A>G c.1-12156A>G (n.1-12156A>G) c.6375A>G (p.Thr2125=) c.6921A>G (p.Thr2307=) c.6738A>G (p.Thr2246=) c.6459A>G (p.Thr2153=) c.5502A>G (p.Thr1834=) c.5493A>G (p.Thr1831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052422A>T | CA443911526 | NIPBL | c.7119A>T (p.Thr2373=) n.1001A>T c.1-12156A>T (n.1-12156A>T) c.6375A>T (p.Thr2125=) c.6921A>T (p.Thr2307=) c.6738A>T (p.Thr2246=) c.6459A>T (p.Thr2153=) c.5502A>T (p.Thr1834=) c.5493A>T (p.Thr1831=) | |
5 | g.37052423T>A | CA359511290 | NIPBL | c.7120T>A (p.Cys2374Ser) n.1002T>A c.1-12155T>A (n.1-12155T>A) c.6376T>A (p.Cys2126Ser) c.6922T>A (p.Cys2308Ser) c.6739T>A (p.Cys2247Ser) c.6460T>A (p.Cys2154Ser) c.5503T>A (p.Cys1835Ser) c.5494T>A (p.Cys1832Ser) | |
5 | g.37052423T>C | CA359511294 | NIPBL | c.7120T>C (p.Cys2374Arg) n.1002T>C c.1-12155T>C (n.1-12155T>C) c.6376T>C (p.Cys2126Arg) c.6922T>C (p.Cys2308Arg) c.6739T>C (p.Cys2247Arg) c.6460T>C (p.Cys2154Arg) c.5503T>C (p.Cys1835Arg) c.5494T>C (p.Cys1832Arg) | |
5 | g.37052423T>G | CA359511291 | NIPBL | c.7120T>G (p.Cys2374Gly) n.1002T>G c.1-12155T>G (n.1-12155T>G) c.6376T>G (p.Cys2126Gly) c.6922T>G (p.Cys2308Gly) c.6739T>G (p.Cys2247Gly) c.6460T>G (p.Cys2154Gly) c.5503T>G (p.Cys1835Gly) c.5494T>G (p.Cys1832Gly) | |
5 | g.37052424G>A | CA359511297 | NIPBL | c.7121G>A (p.Cys2374Tyr) n.1003G>A c.1-12154G>A (n.1-12154G>A) c.6377G>A (p.Cys2126Tyr) c.6923G>A (p.Cys2308Tyr) c.6740G>A (p.Cys2247Tyr) c.6461G>A (p.Cys2154Tyr) c.5504G>A (p.Cys1835Tyr) c.5495G>A (p.Cys1832Tyr) | |
5 | g.37052424G>C | CA359511307 | NIPBL | c.7121G>C (p.Cys2374Ser) n.1003G>C c.1-12154G>C (n.1-12154G>C) c.6377G>C (p.Cys2126Ser) c.6923G>C (p.Cys2308Ser) c.6740G>C (p.Cys2247Ser) c.6461G>C (p.Cys2154Ser) c.5504G>C (p.Cys1835Ser) c.5495G>C (p.Cys1832Ser) | |
5 | g.37052424G>T | CA359511306 | NIPBL | c.7121G>T (p.Cys2374Phe) n.1003G>T c.1-12154G>T (n.1-12154G>T) c.6377G>T (p.Cys2126Phe) c.6923G>T (p.Cys2308Phe) c.6740G>T (p.Cys2247Phe) c.6461G>T (p.Cys2154Phe) c.5504G>T (p.Cys1835Phe) c.5495G>T (p.Cys1832Phe) | |
5 | g.37052425C>A | CA359511309 | NIPBL | c.7122C>A (p.Cys2374Ter) n.1004C>A c.1-12153C>A (n.1-12153C>A) c.6378C>A (p.Cys2126Ter) c.6924C>A (p.Cys2308Ter) c.6741C>A (p.Cys2247Ter) c.6462C>A (p.Cys2154Ter) c.5505C>A (p.Cys1835Ter) c.5496C>A (p.Cys1832Ter) | |
5 | g.37052425C>G | CA359511310 | NIPBL | c.7122C>G (p.Cys2374Trp) n.1004C>G c.1-12153C>G (n.1-12153C>G) c.6378C>G (p.Cys2126Trp) c.6924C>G (p.Cys2308Trp) c.6741C>G (p.Cys2247Trp) c.6462C>G (p.Cys2154Trp) c.5505C>G (p.Cys1835Trp) c.5496C>G (p.Cys1832Trp) | |
5 | g.37052425C>T | CA443911541 | NIPBL | c.7122C>T (p.Cys2374=) n.1004C>T c.1-12153C>T (n.1-12153C>T) c.6378C>T (p.Cys2126=) c.6924C>T (p.Cys2308=) c.6741C>T (p.Cys2247=) c.6462C>T (p.Cys2154=) c.5505C>T (p.Cys1835=) c.5496C>T (p.Cys1832=) | |
5 | g.37052426C>A | CA359511312 | NIPBL | c.7123C>A (p.Leu2375Ile) n.1005C>A c.1-12152C>A (n.1-12152C>A) c.6379C>A (p.Leu2127Ile) c.6925C>A (p.Leu2309Ile) c.6742C>A (p.Leu2248Ile) c.6463C>A (p.Leu2155Ile) c.5506C>A (p.Leu1836Ile) c.5497C>A (p.Leu1833Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.37052426C= | CA1539572193 | NIPBL | c.7123C= (p.Leu2375=) n.1005C= c.1-12152C= (n.1-12152C=) c.6379C= (p.Leu2127=) c.6925C= (p.Leu2309=) c.6742C= (p.Leu2248=) c.6463C= (p.Leu2155=) c.5506C= (p.Leu1836=) c.5497C= (p.Leu1833=) | |
5 | g.37052426C>G | CA359511313 | NIPBL | c.7123C>G (p.Leu2375Val) n.1005C>G c.1-12152C>G (n.1-12152C>G) c.6379C>G (p.Leu2127Val) c.6925C>G (p.Leu2309Val) c.6742C>G (p.Leu2248Val) c.6463C>G (p.Leu2155Val) c.5506C>G (p.Leu1836Val) c.5497C>G (p.Leu1833Val) | |
5 | g.37052426C>T | CA443911548 | NIPBL | c.7123C>T (p.Leu2375=) n.1005C>T c.1-12152C>T (n.1-12152C>T) c.6379C>T (p.Leu2127=) c.6925C>T (p.Leu2309=) c.6742C>T (p.Leu2248=) c.6463C>T (p.Leu2155=) c.5506C>T (p.Leu1836=) c.5497C>T (p.Leu1833=) | gnomAD v4 |
5 | g.37052427T>A | CA359511325 | NIPBL | c.7124T>A (p.Leu2375Gln) n.1006T>A c.1-12151T>A (n.1-12151T>A) c.6380T>A (p.Leu2127Gln) c.6926T>A (p.Leu2309Gln) c.6743T>A (p.Leu2248Gln) c.6464T>A (p.Leu2155Gln) c.5507T>A (p.Leu1836Gln) c.5498T>A (p.Leu1833Gln) | |
5 | g.37052427T>C | CA359511326 | NIPBL | c.7124T>C (p.Leu2375Pro) n.1006T>C c.1-12151T>C (n.1-12151T>C) c.6380T>C (p.Leu2127Pro) c.6926T>C (p.Leu2309Pro) c.6743T>C (p.Leu2248Pro) c.6464T>C (p.Leu2155Pro) c.5507T>C (p.Leu1836Pro) c.5498T>C (p.Leu1833Pro) | |
5 | g.37052427T>G | CA3237144 | NIPBL | c.7124T>G (p.Leu2375Arg) n.1006T>G c.1-12151T>G (n.1-12151T>G) c.6380T>G (p.Leu2127Arg) c.6926T>G (p.Leu2309Arg) c.6743T>G (p.Leu2248Arg) c.6464T>G (p.Leu2155Arg) c.5507T>G (p.Leu1836Arg) c.5498T>G (p.Leu1833Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37052427T= | CA1539572199 | NIPBL | c.7124T= (p.Leu2375=) n.1006T= c.1-12151T= (n.1-12151T=) c.6380T= (p.Leu2127=) c.6926T= (p.Leu2309=) c.6743T= (p.Leu2248=) c.6464T= (p.Leu2155=) c.5507T= (p.Leu1836=) c.5498T= (p.Leu1833=) | |
5 | g.37052428A>C | CA443911557 | NIPBL | c.7125A>C (p.Leu2375=) n.1007A>C c.1-12150A>C (n.1-12150A>C) c.6381A>C (p.Leu2127=) c.6927A>C (p.Leu2309=) c.6744A>C (p.Leu2248=) c.6465A>C (p.Leu2155=) c.5508A>C (p.Leu1836=) c.5499A>C (p.Leu1833=) | |
5 | g.37052428A>G | CA443911559 | NIPBL | c.7125A>G (p.Leu2375=) n.1007A>G c.1-12150A>G (n.1-12150A>G) c.6381A>G (p.Leu2127=) c.6927A>G (p.Leu2309=) c.6744A>G (p.Leu2248=) c.6465A>G (p.Leu2155=) c.5508A>G (p.Leu1836=) c.5499A>G (p.Leu1833=) | |
5 | g.37052428A>T | CA443911555 | NIPBL | c.7125A>T (p.Leu2375=) n.1007A>T c.1-12150A>T (n.1-12150A>T) c.6381A>T (p.Leu2127=) c.6927A>T (p.Leu2309=) c.6744A>T (p.Leu2248=) c.6465A>T (p.Leu2155=) c.5508A>T (p.Leu1836=) c.5499A>T (p.Leu1833=) | |
5 | g.37052429A>C | CA359511327 | NIPBL | c.7126A>C (p.Lys2376Gln) n.1008A>C c.1-12149A>C (n.1-12149A>C) c.6382A>C (p.Lys2128Gln) c.6928A>C (p.Lys2310Gln) c.6745A>C (p.Lys2249Gln) c.6466A>C (p.Lys2156Gln) c.5509A>C (p.Lys1837Gln) c.5500A>C (p.Lys1834Gln) | |
5 | g.37052429A>G | CA359511328 | NIPBL | c.7126A>G (p.Lys2376Glu) n.1008A>G c.1-12149A>G (n.1-12149A>G) c.6382A>G (p.Lys2128Glu) c.6928A>G (p.Lys2310Glu) c.6745A>G (p.Lys2249Glu) c.6466A>G (p.Lys2156Glu) c.5509A>G (p.Lys1837Glu) c.5500A>G (p.Lys1834Glu) | |
5 | g.37052429A>T | CA359511329 | NIPBL | c.7126A>T (p.Lys2376Ter) n.1008A>T c.1-12149A>T (n.1-12149A>T) c.6382A>T (p.Lys2128Ter) c.6928A>T (p.Lys2310Ter) c.6745A>T (p.Lys2249Ter) c.6466A>T (p.Lys2156Ter) c.5509A>T (p.Lys1837Ter) c.5500A>T (p.Lys1834Ter) | |
5 | g.37052430A>C | CA359511331 | NIPBL | c.7127A>C (p.Lys2376Thr) n.1009A>C c.1-12148A>C (n.1-12148A>C) c.6383A>C (p.Lys2128Thr) c.6929A>C (p.Lys2310Thr) c.6746A>C (p.Lys2249Thr) c.6467A>C (p.Lys2156Thr) c.5510A>C (p.Lys1837Thr) c.5501A>C (p.Lys1834Thr) | |
5 | g.37052430A>G | CA359511334 | NIPBL | c.7127A>G (p.Lys2376Arg) n.1009A>G c.1-12148A>G (n.1-12148A>G) c.6383A>G (p.Lys2128Arg) c.6929A>G (p.Lys2310Arg) c.6746A>G (p.Lys2249Arg) c.6467A>G (p.Lys2156Arg) c.5510A>G (p.Lys1837Arg) c.5501A>G (p.Lys1834Arg) | |
5 | g.37052430A>T | CA359511337 | NIPBL | c.7127A>T (p.Lys2376Ile) n.1009A>T c.1-12148A>T (n.1-12148A>T) c.6383A>T (p.Lys2128Ile) c.6929A>T (p.Lys2310Ile) c.6746A>T (p.Lys2249Ile) c.6467A>T (p.Lys2156Ile) c.5510A>T (p.Lys1837Ile) c.5501A>T (p.Lys1834Ile) | |
5 | g.37052431A>C | CA359511341 | NIPBL | c.7128A>C (p.Lys2376Asn) n.1010A>C c.1-12147A>C (n.1-12147A>C) c.6384A>C (p.Lys2128Asn) c.6930A>C (p.Lys2310Asn) c.6747A>C (p.Lys2249Asn) c.6468A>C (p.Lys2156Asn) c.5511A>C (p.Lys1837Asn) c.5502A>C (p.Lys1834Asn) | gnomAD v4 |
5 | g.37052431A>G | CA443911572 | NIPBL | c.7128A>G (p.Lys2376=) n.1010A>G c.1-12147A>G (n.1-12147A>G) c.6384A>G (p.Lys2128=) c.6930A>G (p.Lys2310=) c.6747A>G (p.Lys2249=) c.6468A>G (p.Lys2156=) c.5511A>G (p.Lys1837=) c.5502A>G (p.Lys1834=) | |
5 | g.37052431A>T | CA359511343 | NIPBL | c.7128A>T (p.Lys2376Asn) n.1010A>T c.1-12147A>T (n.1-12147A>T) c.6384A>T (p.Lys2128Asn) c.6930A>T (p.Lys2310Asn) c.6747A>T (p.Lys2249Asn) c.6468A>T (p.Lys2156Asn) c.5511A>T (p.Lys1837Asn) c.5502A>T (p.Lys1834Asn) | |
5 | g.37052432G>A | CA359511345 | NIPBL | c.7129G>A (p.Asp2377Asn) n.1011G>A c.1-12146G>A (n.1-12146G>A) c.6385G>A (p.Asp2129Asn) c.6931G>A (p.Asp2311Asn) c.6748G>A (p.Asp2250Asn) c.6469G>A (p.Asp2157Asn) c.5512G>A (p.Asp1838Asn) c.5503G>A (p.Asp1835Asn) | |
5 | g.37052432G>C | CA3237145 | NIPBL | c.7129G>C (p.Asp2377His) n.1011G>C c.1-12146G>C (n.1-12146G>C) c.6385G>C (p.Asp2129His) c.6931G>C (p.Asp2311His) c.6748G>C (p.Asp2250His) c.6469G>C (p.Asp2157His) c.5512G>C (p.Asp1838His) c.5503G>C (p.Asp1835His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052432G= | CA1539572205 | NIPBL | c.7129G= (p.Asp2377=) n.1011G= c.1-12146G= (n.1-12146G=) c.6385G= (p.Asp2129=) c.6931G= (p.Asp2311=) c.6748G= (p.Asp2250=) c.6469G= (p.Asp2157=) c.5512G= (p.Asp1838=) c.5503G= (p.Asp1835=) | |
5 | g.37052432G>T | CA359511348 | NIPBL | c.7129G>T (p.Asp2377Tyr) n.1011G>T c.1-12146G>T (n.1-12146G>T) c.6385G>T (p.Asp2129Tyr) c.6931G>T (p.Asp2311Tyr) c.6748G>T (p.Asp2250Tyr) c.6469G>T (p.Asp2157Tyr) c.5512G>T (p.Asp1838Tyr) c.5503G>T (p.Asp1835Tyr) | |
5 | g.37052433A>C | CA359511350 | NIPBL | c.7130A>C (p.Asp2377Ala) n.1012A>C c.1-12145A>C (n.1-12145A>C) c.6386A>C (p.Asp2129Ala) c.6932A>C (p.Asp2311Ala) c.6749A>C (p.Asp2250Ala) c.6470A>C (p.Asp2157Ala) c.5513A>C (p.Asp1838Ala) c.5504A>C (p.Asp1835Ala) | |
5 | g.37052433A>G | CA359511351 | NIPBL | c.7130A>G (p.Asp2377Gly) n.1012A>G c.1-12145A>G (n.1-12145A>G) c.6386A>G (p.Asp2129Gly) c.6932A>G (p.Asp2311Gly) c.6749A>G (p.Asp2250Gly) c.6470A>G (p.Asp2157Gly) c.5513A>G (p.Asp1838Gly) c.5504A>G (p.Asp1835Gly) | |
5 | g.37052433A>T | CA359511352 | NIPBL | c.7130A>T (p.Asp2377Val) n.1012A>T c.1-12145A>T (n.1-12145A>T) c.6386A>T (p.Asp2129Val) c.6932A>T (p.Asp2311Val) c.6749A>T (p.Asp2250Val) c.6470A>T (p.Asp2157Val) c.5513A>T (p.Asp1838Val) c.5504A>T (p.Asp1835Val) | |
5 | g.37052434T>A | CA359511353 | NIPBL | c.7131T>A (p.Asp2377Glu) n.1013T>A c.1-12144T>A (n.1-12144T>A) c.6387T>A (p.Asp2129Glu) c.6933T>A (p.Asp2311Glu) c.6750T>A (p.Asp2250Glu) c.6471T>A (p.Asp2157Glu) c.5514T>A (p.Asp1838Glu) c.5505T>A (p.Asp1835Glu) | |
5 | g.37052434T>C | CA443911589 | NIPBL | c.7131T>C (p.Asp2377=) n.1013T>C c.1-12144T>C (n.1-12144T>C) c.6387T>C (p.Asp2129=) c.6933T>C (p.Asp2311=) c.6750T>C (p.Asp2250=) c.6471T>C (p.Asp2157=) c.5514T>C (p.Asp1838=) c.5505T>C (p.Asp1835=) | |
5 | g.37052434T>G | CA359511355 | NIPBL | c.7131T>G (p.Asp2377Glu) n.1013T>G c.1-12144T>G (n.1-12144T>G) c.6387T>G (p.Asp2129Glu) c.6933T>G (p.Asp2311Glu) c.6750T>G (p.Asp2250Glu) c.6471T>G (p.Asp2157Glu) c.5514T>G (p.Asp1838Glu) c.5505T>G (p.Asp1835Glu) | |
5 | g.37052435C>A | CA359511359 | NIPBL | c.7132C>A (p.Pro2378Thr) n.1014C>A c.1-12143C>A (n.1-12143C>A) c.6388C>A (p.Pro2130Thr) c.6934C>A (p.Pro2312Thr) c.6751C>A (p.Pro2251Thr) c.6472C>A (p.Pro2158Thr) c.5515C>A (p.Pro1839Thr) c.5506C>A (p.Pro1836Thr) | gnomAD v4 |
5 | g.37052435C= | CA1539572211 | NIPBL | c.7132C= (p.Pro2378=) n.1014C= c.1-12143C= (n.1-12143C=) c.6388C= (p.Pro2130=) c.6934C= (p.Pro2312=) c.6751C= (p.Pro2251=) c.6472C= (p.Pro2158=) c.5515C= (p.Pro1839=) c.5506C= (p.Pro1836=) | |
5 | g.37052435C>G | CA3237146 | NIPBL | c.7132C>G (p.Pro2378Ala) n.1014C>G c.1-12143C>G (n.1-12143C>G) c.6388C>G (p.Pro2130Ala) c.6934C>G (p.Pro2312Ala) c.6751C>G (p.Pro2251Ala) c.6472C>G (p.Pro2158Ala) c.5515C>G (p.Pro1839Ala) c.5506C>G (p.Pro1836Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37052435C>T | CA359511363 | NIPBL | c.7132C>T (p.Pro2378Ser) n.1014C>T c.1-12143C>T (n.1-12143C>T) c.6388C>T (p.Pro2130Ser) c.6934C>T (p.Pro2312Ser) c.6751C>T (p.Pro2251Ser) c.6472C>T (p.Pro2158Ser) c.5515C>T (p.Pro1839Ser) c.5506C>T (p.Pro1836Ser) | |
5 | g.37052436C>A | CA359511369 | NIPBL | c.7133C>A (p.Pro2378His) n.1015C>A c.1-12142C>A (n.1-12142C>A) c.6389C>A (p.Pro2130His) c.6935C>A (p.Pro2312His) c.6752C>A (p.Pro2251His) c.6473C>A (p.Pro2158His) c.5516C>A (p.Pro1839His) c.5507C>A (p.Pro1836His) | |
5 | g.37052436C= | CA1539572216 | NIPBL | c.7133C= (p.Pro2378=) n.1015C= c.1-12142C= (n.1-12142C=) c.6389C= (p.Pro2130=) c.6935C= (p.Pro2312=) c.6752C= (p.Pro2251=) c.6473C= (p.Pro2158=) c.5516C= (p.Pro1839=) c.5507C= (p.Pro1836=) | |
5 | g.37052436C>G | CA359511367 | NIPBL | c.7133C>G (p.Pro2378Arg) n.1015C>G c.1-12142C>G (n.1-12142C>G) c.6389C>G (p.Pro2130Arg) c.6935C>G (p.Pro2312Arg) c.6752C>G (p.Pro2251Arg) c.6473C>G (p.Pro2158Arg) c.5516C>G (p.Pro1839Arg) c.5507C>G (p.Pro1836Arg) | |
5 | g.37052436C>T | CA359511365 | NIPBL | c.7133C>T (p.Pro2378Leu) n.1015C>T c.1-12142C>T (n.1-12142C>T) c.6389C>T (p.Pro2130Leu) c.6935C>T (p.Pro2312Leu) c.6752C>T (p.Pro2251Leu) c.6473C>T (p.Pro2158Leu) c.5516C>T (p.Pro1839Leu) c.5507C>T (p.Pro1836Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
5 | g.37052437T>A | CA443911601 | NIPBL | c.7134T>A (p.Pro2378=) n.1016T>A c.1-12141T>A (n.1-12141T>A) c.6390T>A (p.Pro2130=) c.6936T>A (p.Pro2312=) c.6753T>A (p.Pro2251=) c.6474T>A (p.Pro2158=) c.5517T>A (p.Pro1839=) c.5508T>A (p.Pro1836=) | |
5 | g.37052437T>C | CA443911604 | NIPBL | c.7134T>C (p.Pro2378=) n.1016T>C c.1-12141T>C (n.1-12141T>C) c.6390T>C (p.Pro2130=) c.6936T>C (p.Pro2312=) c.6753T>C (p.Pro2251=) c.6474T>C (p.Pro2158=) c.5517T>C (p.Pro1839=) c.5508T>C (p.Pro1836=) | dbSNP gnomAD v4 |
5 | g.37052437T>G | CA443911606 | NIPBL | c.7134T>G (p.Pro2378=) n.1016T>G c.1-12141T>G (n.1-12141T>G) c.6390T>G (p.Pro2130=) c.6936T>G (p.Pro2312=) c.6753T>G (p.Pro2251=) c.6474T>G (p.Pro2158=) c.5517T>G (p.Pro1839=) c.5508T>G (p.Pro1836=) | |
5 | g.37052437T= | CA1539572219 | NIPBL | c.7134T= (p.Pro2378=) n.1016T= c.1-12141T= (n.1-12141T=) c.6390T= (p.Pro2130=) c.6936T= (p.Pro2312=) c.6753T= (p.Pro2251=) c.6474T= (p.Pro2158=) c.5517T= (p.Pro1839=) c.5508T= (p.Pro1836=) | |
5 | g.37052438G>A | CA359511377 | NIPBL | c.7135G>A (p.Val2379Ile) n.1017G>A c.1-12140G>A (n.1-12140G>A) c.6391G>A (p.Val2131Ile) c.6937G>A (p.Val2313Ile) c.6754G>A (p.Val2252Ile) c.6475G>A (p.Val2159Ile) c.5518G>A (p.Val1840Ile) c.5509G>A (p.Val1837Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.37052438G>C | CA359511372 | NIPBL | c.7135G>C (p.Val2379Leu) n.1017G>C c.1-12140G>C (n.1-12140G>C) c.6391G>C (p.Val2131Leu) c.6937G>C (p.Val2313Leu) c.6754G>C (p.Val2252Leu) c.6475G>C (p.Val2159Leu) c.5518G>C (p.Val1840Leu) c.5509G>C (p.Val1837Leu) | |
5 | g.37052438G= | CA1539572229 | NIPBL | c.7135G= (p.Val2379=) n.1017G= c.1-12140G= (n.1-12140G=) c.6391G= (p.Val2131=) c.6937G= (p.Val2313=) c.6754G= (p.Val2252=) c.6475G= (p.Val2159=) c.5518G= (p.Val1840=) c.5509G= (p.Val1837=) | |
5 | g.37052438G>T | CA359511375 | NIPBL | c.7135G>T (p.Val2379Leu) n.1017G>T c.1-12140G>T (n.1-12140G>T) c.6391G>T (p.Val2131Leu) c.6937G>T (p.Val2313Leu) c.6754G>T (p.Val2252Leu) c.6475G>T (p.Val2159Leu) c.5518G>T (p.Val1840Leu) c.5509G>T (p.Val1837Leu) | |
5 | g.37052439T>A | CA359511380 | NIPBL | c.7136T>A (p.Val2379Glu) n.1018T>A c.1-12139T>A (n.1-12139T>A) c.6392T>A (p.Val2131Glu) c.6938T>A (p.Val2313Glu) c.6755T>A (p.Val2252Glu) c.6476T>A (p.Val2159Glu) c.5519T>A (p.Val1840Glu) c.5510T>A (p.Val1837Glu) | |
5 | g.37052439T>C | CA359511382 | NIPBL | c.7136T>C (p.Val2379Ala) n.1018T>C c.1-12139T>C (n.1-12139T>C) c.6392T>C (p.Val2131Ala) c.6938T>C (p.Val2313Ala) c.6755T>C (p.Val2252Ala) c.6476T>C (p.Val2159Ala) c.5519T>C (p.Val1840Ala) c.5510T>C (p.Val1837Ala) | |
5 | g.37052439T>G | CA359511384 | NIPBL | c.7136T>G (p.Val2379Gly) n.1018T>G c.1-12139T>G (n.1-12139T>G) c.6392T>G (p.Val2131Gly) c.6938T>G (p.Val2313Gly) c.6755T>G (p.Val2252Gly) c.6476T>G (p.Val2159Gly) c.5519T>G (p.Val1840Gly) c.5510T>G (p.Val1837Gly) | |
5 | g.37052440A>C | CA443911615 | NIPBL | c.7137A>C (p.Val2379=) n.1019A>C c.1-12138A>C (n.1-12138A>C) c.6393A>C (p.Val2131=) c.6939A>C (p.Val2313=) c.6756A>C (p.Val2252=) c.6477A>C (p.Val2159=) c.5520A>C (p.Val1840=) c.5511A>C (p.Val1837=) | |
5 | g.37052440A>G | CA443911617 | NIPBL | c.7137A>G (p.Val2379=) n.1019A>G c.1-12138A>G (n.1-12138A>G) c.6393A>G (p.Val2131=) c.6939A>G (p.Val2313=) c.6756A>G (p.Val2252=) c.6477A>G (p.Val2159=) c.5520A>G (p.Val1840=) c.5511A>G (p.Val1837=) | gnomAD v4 |
5 | g.37052440A>T | CA443911620 | NIPBL | c.7137A>T (p.Val2379=) n.1019A>T c.1-12138A>T (n.1-12138A>T) c.6393A>T (p.Val2131=) c.6939A>T (p.Val2313=) c.6756A>T (p.Val2252=) c.6477A>T (p.Val2159=) c.5520A>T (p.Val1840=) c.5511A>T (p.Val1837=) | |
5 | g.37052441A>C | CA443911622 | NIPBL | c.7138A>C (p.Arg2380=) n.1020A>C c.1-12137A>C (n.1-12137A>C) c.6394A>C (p.Arg2132=) c.6940A>C (p.Arg2314=) c.6757A>C (p.Arg2253=) c.6478A>C (p.Arg2160=) c.5521A>C (p.Arg1841=) c.5512A>C (p.Arg1838=) | |
5 | g.37052441A>G | CA359511385 | NIPBL | c.7138A>G (p.Arg2380Gly) n.1020A>G c.1-12137A>G (n.1-12137A>G) c.6394A>G (p.Arg2132Gly) c.6940A>G (p.Arg2314Gly) c.6757A>G (p.Arg2253Gly) c.6478A>G (p.Arg2160Gly) c.5521A>G (p.Arg1841Gly) c.5512A>G (p.Arg1838Gly) | |
5 | g.37052441A>T | CA359511386 | NIPBL | c.7138A>T (p.Arg2380Trp) n.1020A>T c.1-12137A>T (n.1-12137A>T) c.6394A>T (p.Arg2132Trp) c.6940A>T (p.Arg2314Trp) c.6757A>T (p.Arg2253Trp) c.6478A>T (p.Arg2160Trp) c.5521A>T (p.Arg1841Trp) c.5512A>T (p.Arg1838Trp) | |
5 | g.37052442G>A | CA359511387 | NIPBL | c.7139G>A (p.Arg2380Lys) n.1021G>A c.1-12136G>A (n.1-12136G>A) c.6395G>A (p.Arg2132Lys) c.6941G>A (p.Arg2314Lys) c.6758G>A (p.Arg2253Lys) c.6479G>A (p.Arg2160Lys) c.5522G>A (p.Arg1841Lys) c.5513G>A (p.Arg1838Lys) | |
5 | g.37052442G>C | CA359511388 | NIPBL | c.7139G>C (p.Arg2380Thr) n.1021G>C c.1-12136G>C (n.1-12136G>C) c.6395G>C (p.Arg2132Thr) c.6941G>C (p.Arg2314Thr) c.6758G>C (p.Arg2253Thr) c.6479G>C (p.Arg2160Thr) c.5522G>C (p.Arg1841Thr) c.5513G>C (p.Arg1838Thr) | |
5 | g.37052442G>T | CA359511389 | NIPBL | c.7139G>T (p.Arg2380Met) n.1021G>T c.1-12136G>T (n.1-12136G>T) c.6395G>T (p.Arg2132Met) c.6941G>T (p.Arg2314Met) c.6758G>T (p.Arg2253Met) c.6479G>T (p.Arg2160Met) c.5522G>T (p.Arg1841Met) c.5513G>T (p.Arg1838Met) | |
5 | g.37052443G>A | CA443911632 | NIPBL | c.7140G>A (p.Arg2380=) n.1022G>A c.1-12135G>A (n.1-12135G>A) c.6396G>A (p.Arg2132=) c.6942G>A (p.Arg2314=) c.6759G>A (p.Arg2253=) c.6480G>A (p.Arg2160=) c.5523G>A (p.Arg1841=) c.5514G>A (p.Arg1838=) | |
5 | g.37052443G>C | CA359511390 | NIPBL | c.7140G>C (p.Arg2380Ser) n.1022G>C c.1-12135G>C (n.1-12135G>C) c.6396G>C (p.Arg2132Ser) c.6942G>C (p.Arg2314Ser) c.6759G>C (p.Arg2253Ser) c.6480G>C (p.Arg2160Ser) c.5523G>C (p.Arg1841Ser) c.5514G>C (p.Arg1838Ser) | |
5 | g.37052443G>T | CA359511391 | NIPBL | c.7140G>T (p.Arg2380Ser) n.1022G>T c.1-12135G>T (n.1-12135G>T) c.6396G>T (p.Arg2132Ser) c.6942G>T (p.Arg2314Ser) c.6759G>T (p.Arg2253Ser) c.6480G>T (p.Arg2160Ser) c.5523G>T (p.Arg1841Ser) c.5514G>T (p.Arg1838Ser) | |
5 | g.37052444G>A | CA272289 | NIPBL | c.7141G>A (p.Gly2381Ser) n.1023G>A c.1-12134G>A (n.1-12134G>A) c.6397G>A (p.Gly2133Ser) c.6943G>A (p.Gly2315Ser) c.6760G>A (p.Gly2254Ser) c.6481G>A (p.Gly2161Ser) c.5524G>A (p.Gly1842Ser) c.5515G>A (p.Gly1839Ser) | ClinVar dbSNP |
5 | g.37052444G>C | CA359511395 | NIPBL | c.7141G>C (p.Gly2381Arg) n.1023G>C c.1-12134G>C (n.1-12134G>C) c.6397G>C (p.Gly2133Arg) c.6943G>C (p.Gly2315Arg) c.6760G>C (p.Gly2254Arg) c.6481G>C (p.Gly2161Arg) c.5524G>C (p.Gly1842Arg) c.5515G>C (p.Gly1839Arg) | ClinVar |
5 | g.37052444G= | CA1539572234 | NIPBL | c.7141G= (p.Gly2381=) n.1023G= c.1-12134G= (n.1-12134G=) c.6397G= (p.Gly2133=) c.6943G= (p.Gly2315=) c.6760G= (p.Gly2254=) c.6481G= (p.Gly2161=) c.5524G= (p.Gly1842=) c.5515G= (p.Gly1839=) | |
5 | g.37052444G>T | CA359511393 | NIPBL | c.7141G>T (p.Gly2381Cys) n.1023G>T c.1-12134G>T (n.1-12134G>T) c.6397G>T (p.Gly2133Cys) c.6943G>T (p.Gly2315Cys) c.6760G>T (p.Gly2254Cys) c.6481G>T (p.Gly2161Cys) c.5524G>T (p.Gly1842Cys) c.5515G>T (p.Gly1839Cys) | |
5 | g.37052445G>A | CA359511397 | NIPBL | c.7142G>A (p.Gly2381Asp) n.1024G>A c.1-12133G>A (n.1-12133G>A) c.6398G>A (p.Gly2133Asp) c.6944G>A (p.Gly2315Asp) c.6761G>A (p.Gly2254Asp) c.6482G>A (p.Gly2161Asp) c.5525G>A (p.Gly1842Asp) c.5516G>A (p.Gly1839Asp) | |
5 | g.37052445G>C | CA359511398 | NIPBL | c.7142G>C (p.Gly2381Ala) n.1024G>C c.1-12133G>C (n.1-12133G>C) c.6398G>C (p.Gly2133Ala) c.6944G>C (p.Gly2315Ala) c.6761G>C (p.Gly2254Ala) c.6482G>C (p.Gly2161Ala) c.5525G>C (p.Gly1842Ala) c.5516G>C (p.Gly1839Ala) | |
5 | g.37052445G>T | CA359511401 | NIPBL | c.7142G>T (p.Gly2381Val) n.1024G>T c.1-12133G>T (n.1-12133G>T) c.6398G>T (p.Gly2133Val) c.6944G>T (p.Gly2315Val) c.6761G>T (p.Gly2254Val) c.6482G>T (p.Gly2161Val) c.5525G>T (p.Gly1842Val) c.5516G>T (p.Gly1839Val) | |
5 | g.37052446T>A | CA443911644 | NIPBL | c.7143T>A (p.Gly2381=) n.1025T>A c.1-12132T>A (n.1-12132T>A) c.6399T>A (p.Gly2133=) c.6945T>A (p.Gly2315=) c.6762T>A (p.Gly2254=) c.6483T>A (p.Gly2161=) c.5526T>A (p.Gly1842=) c.5517T>A (p.Gly1839=) | |
5 | g.37052446T>C | CA443911646 | NIPBL | c.7143T>C (p.Gly2381=) n.1025T>C c.1-12132T>C (n.1-12132T>C) c.6399T>C (p.Gly2133=) c.6945T>C (p.Gly2315=) c.6762T>C (p.Gly2254=) c.6483T>C (p.Gly2161=) c.5526T>C (p.Gly1842=) c.5517T>C (p.Gly1839=) | |
5 | g.37052446T>G | CA443911648 | NIPBL | c.7143T>G (p.Gly2381=) n.1025T>G c.1-12132T>G (n.1-12132T>G) c.6399T>G (p.Gly2133=) c.6945T>G (p.Gly2315=) c.6762T>G (p.Gly2254=) c.6483T>G (p.Gly2161=) c.5526T>G (p.Gly1842=) c.5517T>G (p.Gly1839=) | |
5 | g.37052447T>A | CA359511412 | NIPBL | c.7144T>A (p.Phe2382Ile) n.1026T>A c.1-12131T>A (n.1-12131T>A) c.6400T>A (p.Phe2134Ile) c.6946T>A (p.Phe2316Ile) c.6763T>A (p.Phe2255Ile) c.6484T>A (p.Phe2162Ile) c.5527T>A (p.Phe1843Ile) c.5518T>A (p.Phe1840Ile) | |
5 | g.37052447T>C | CA359511416 | NIPBL | c.7144T>C (p.Phe2382Leu) n.1026T>C c.1-12131T>C (n.1-12131T>C) c.6400T>C (p.Phe2134Leu) c.6946T>C (p.Phe2316Leu) c.6763T>C (p.Phe2255Leu) c.6484T>C (p.Phe2162Leu) c.5527T>C (p.Phe1843Leu) c.5518T>C (p.Phe1840Leu) | |
5 | g.37052447T>G | CA359511418 | NIPBL | c.7144T>G (p.Phe2382Val) n.1026T>G c.1-12131T>G (n.1-12131T>G) c.6400T>G (p.Phe2134Val) c.6946T>G (p.Phe2316Val) c.6763T>G (p.Phe2255Val) c.6484T>G (p.Phe2162Val) c.5527T>G (p.Phe1843Val) c.5518T>G (p.Phe1840Val) | |
5 | g.37052448T>A | CA359511419 | NIPBL | c.7145T>A (p.Phe2382Tyr) n.1027T>A c.1-12130T>A (n.1-12130T>A) c.6401T>A (p.Phe2134Tyr) c.6947T>A (p.Phe2316Tyr) c.6764T>A (p.Phe2255Tyr) c.6485T>A (p.Phe2162Tyr) c.5528T>A (p.Phe1843Tyr) c.5519T>A (p.Phe1840Tyr) | |
5 | g.37052448T>C | CA359511422 | NIPBL | c.7145T>C (p.Phe2382Ser) n.1027T>C c.1-12130T>C (n.1-12130T>C) c.6401T>C (p.Phe2134Ser) c.6947T>C (p.Phe2316Ser) c.6764T>C (p.Phe2255Ser) c.6485T>C (p.Phe2162Ser) c.5528T>C (p.Phe1843Ser) c.5519T>C (p.Phe1840Ser) | |
5 | g.37052448T>G | CA359511426 | NIPBL | c.7145T>G (p.Phe2382Cys) n.1027T>G c.1-12130T>G (n.1-12130T>G) c.6401T>G (p.Phe2134Cys) c.6947T>G (p.Phe2316Cys) c.6764T>G (p.Phe2255Cys) c.6485T>G (p.Phe2162Cys) c.5528T>G (p.Phe1843Cys) c.5519T>G (p.Phe1840Cys) | |
5 | g.37052449C>A | CA359511428 | NIPBL | c.7146C>A (p.Phe2382Leu) n.1028C>A c.1-12129C>A (n.1-12129C>A) c.6402C>A (p.Phe2134Leu) c.6948C>A (p.Phe2316Leu) c.6765C>A (p.Phe2255Leu) c.6486C>A (p.Phe2162Leu) c.5529C>A (p.Phe1843Leu) c.5520C>A (p.Phe1840Leu) | |
5 | g.37052449C>G | CA359511430 | NIPBL | c.7146C>G (p.Phe2382Leu) n.1028C>G c.1-12129C>G (n.1-12129C>G) c.6402C>G (p.Phe2134Leu) c.6948C>G (p.Phe2316Leu) c.6765C>G (p.Phe2255Leu) c.6486C>G (p.Phe2162Leu) c.5529C>G (p.Phe1843Leu) c.5520C>G (p.Phe1840Leu) | |
5 | g.37052449C>T | CA443911661 | NIPBL | c.7146C>T (p.Phe2382=) n.1028C>T c.1-12129C>T (n.1-12129C>T) c.6402C>T (p.Phe2134=) c.6948C>T (p.Phe2316=) c.6765C>T (p.Phe2255=) c.6486C>T (p.Phe2162=) c.5529C>T (p.Phe1843=) c.5520C>T (p.Phe1840=) | COSMIC |
5 | g.37052450A>C | CA443911666 | NIPBL | c.7147A>C (p.Arg2383=) n.1029A>C c.1-12128A>C (n.1-12128A>C) c.6403A>C (p.Arg2135=) c.6949A>C (p.Arg2317=) c.6766A>C (p.Arg2256=) c.6487A>C (p.Arg2163=) c.5530A>C (p.Arg1844=) c.5521A>C (p.Arg1841=) | |
5 | g.37052450A>G | CA359511433 | NIPBL | c.7147A>G (p.Arg2383Gly) n.1029A>G c.1-12128A>G (n.1-12128A>G) c.6403A>G (p.Arg2135Gly) c.6949A>G (p.Arg2317Gly) c.6766A>G (p.Arg2256Gly) c.6487A>G (p.Arg2163Gly) c.5530A>G (p.Arg1844Gly) c.5521A>G (p.Arg1841Gly) | |
5 | g.37052450A>T | CA359511434 | NIPBL | c.7147A>T (p.Arg2383Ter) n.1029A>T c.1-12128A>T (n.1-12128A>T) c.6403A>T (p.Arg2135Ter) c.6949A>T (p.Arg2317Ter) c.6766A>T (p.Arg2256Ter) c.6487A>T (p.Arg2163Ter) c.5530A>T (p.Arg1844Ter) c.5521A>T (p.Arg1841Ter) | |
5 | g.37052454_37052458del | CA2695204433 | NIPBL | c.7151_7155del (p.Gln2384ArgfsTer4) n.1033_1037del c.1-12124_1-12120del (n.1-12124_1-12120del) c.6407_6411del (p.Gln2136ArgfsTer4) c.6953_6957del (p.Gln2318ArgfsTer4) c.6770_6774del (p.Gln2257ArgfsTer4) c.6491_6495del (p.Gln2164ArgfsTer4) c.5534_5538del (p.Gln1845ArgfsTer4) c.5525_5529del (p.Gln1842ArgfsTer4) | |
5 | g.37052451G>A | CA359511439 | NIPBL | c.7148G>A (p.Arg2383Lys) n.1030G>A c.1-12127G>A (n.1-12127G>A) c.6404G>A (p.Arg2135Lys) c.6950G>A (p.Arg2317Lys) c.6767G>A (p.Arg2256Lys) c.6488G>A (p.Arg2163Lys) c.5531G>A (p.Arg1844Lys) c.5522G>A (p.Arg1841Lys) | |
5 | g.37052451G>C | CA359511440 | NIPBL | c.7148G>C (p.Arg2383Thr) n.1030G>C c.1-12127G>C (n.1-12127G>C) c.6404G>C (p.Arg2135Thr) c.6950G>C (p.Arg2317Thr) c.6767G>C (p.Arg2256Thr) c.6488G>C (p.Arg2163Thr) c.5531G>C (p.Arg1844Thr) c.5522G>C (p.Arg1841Thr) | |
5 | g.37052451G>T | CA359511437 | NIPBL | c.7148G>T (p.Arg2383Ile) n.1030G>T c.1-12127G>T (n.1-12127G>T) c.6404G>T (p.Arg2135Ile) c.6950G>T (p.Arg2317Ile) c.6767G>T (p.Arg2256Ile) c.6488G>T (p.Arg2163Ile) c.5531G>T (p.Arg1844Ile) c.5522G>T (p.Arg1841Ile) | |
5 | g.37052452A= | CA1539572242 | NIPBL | c.7149A= (p.Arg2383=) n.1031A= c.1-12126A= (n.1-12126A=) c.6405A= (p.Arg2135=) c.6951A= (p.Arg2317=) c.6768A= (p.Arg2256=) c.6489A= (p.Arg2163=) c.5532A= (p.Arg1844=) c.5523A= (p.Arg1841=) | |
5 | g.37052452A>C | CA359511443 | NIPBL | c.7149A>C (p.Arg2383Ser) n.1031A>C c.1-12126A>C (n.1-12126A>C) c.6405A>C (p.Arg2135Ser) c.6951A>C (p.Arg2317Ser) c.6768A>C (p.Arg2256Ser) c.6489A>C (p.Arg2163Ser) c.5532A>C (p.Arg1844Ser) c.5523A>C (p.Arg1841Ser) | |
5 | g.37052452A>G | CA3237147 | NIPBL | c.7149A>G (p.Arg2383=) n.1031A>G c.1-12126A>G (n.1-12126A>G) c.6405A>G (p.Arg2135=) c.6951A>G (p.Arg2317=) c.6768A>G (p.Arg2256=) c.6489A>G (p.Arg2163=) c.5532A>G (p.Arg1844=) c.5523A>G (p.Arg1841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.37052452A>T | CA359511447 | NIPBL | c.7149A>T (p.Arg2383Ser) n.1031A>T c.1-12126A>T (n.1-12126A>T) c.6405A>T (p.Arg2135Ser) c.6951A>T (p.Arg2317Ser) c.6768A>T (p.Arg2256Ser) c.6489A>T (p.Arg2163Ser) c.5532A>T (p.Arg1844Ser) c.5523A>T (p.Arg1841Ser) | |
5 | g.37052453C>A | CA359511450 | NIPBL | c.7150C>A (p.Gln2384Lys) n.1032C>A c.1-12125C>A (n.1-12125C>A) c.6406C>A (p.Gln2136Lys) c.6952C>A (p.Gln2318Lys) c.6769C>A (p.Gln2257Lys) c.6490C>A (p.Gln2164Lys) c.5533C>A (p.Gln1845Lys) c.5524C>A (p.Gln1842Lys) | |
5 | g.37052453C= | CA1539572246 | NIPBL | c.7150C= (p.Gln2384=) n.1032C= c.1-12125C= (n.1-12125C=) c.6406C= (p.Gln2136=) c.6952C= (p.Gln2318=) c.6769C= (p.Gln2257=) c.6490C= (p.Gln2164=) c.5533C= (p.Gln1845=) c.5524C= (p.Gln1842=) | |
5 | g.37052453C>G | CA359511452 | NIPBL | c.7150C>G (p.Gln2384Glu) n.1032C>G c.1-12125C>G (n.1-12125C>G) c.6406C>G (p.Gln2136Glu) c.6952C>G (p.Gln2318Glu) c.6769C>G (p.Gln2257Glu) c.6490C>G (p.Gln2164Glu) c.5533C>G (p.Gln1845Glu) c.5524C>G (p.Gln1842Glu) | |
5 | g.37052453C>T | CA10654758 | NIPBL | c.7150C>T (p.Gln2384Ter) n.1032C>T c.1-12125C>T (n.1-12125C>T) c.6406C>T (p.Gln2136Ter) c.6952C>T (p.Gln2318Ter) c.6769C>T (p.Gln2257Ter) c.6490C>T (p.Gln2164Ter) c.5533C>T (p.Gln1845Ter) c.5524C>T (p.Gln1842Ter) | ClinVar dbSNP |
5 | g.37052454A>C | CA359511457 | NIPBL | c.7151A>C (p.Gln2384Pro) n.1033A>C c.1-12124A>C (n.1-12124A>C) c.6407A>C (p.Gln2136Pro) c.6953A>C (p.Gln2318Pro) c.6770A>C (p.Gln2257Pro) c.6491A>C (p.Gln2164Pro) c.5534A>C (p.Gln1845Pro) c.5525A>C (p.Gln1842Pro) | |
5 | g.37052454A>G | CA359511458 | NIPBL | c.7151A>G (p.Gln2384Arg) n.1033A>G c.1-12124A>G (n.1-12124A>G) c.6407A>G (p.Gln2136Arg) c.6953A>G (p.Gln2318Arg) c.6770A>G (p.Gln2257Arg) c.6491A>G (p.Gln2164Arg) c.5534A>G (p.Gln1845Arg) c.5525A>G (p.Gln1842Arg) | |
5 | g.37052454A>T | CA359511460 | NIPBL | c.7151A>T (p.Gln2384Leu) n.1033A>T c.1-12124A>T (n.1-12124A>T) c.6407A>T (p.Gln2136Leu) c.6953A>T (p.Gln2318Leu) c.6770A>T (p.Gln2257Leu) c.6491A>T (p.Gln2164Leu) c.5534A>T (p.Gln1845Leu) c.5525A>T (p.Gln1842Leu) | |
5 | g.37052455A= | CA1539572249 | NIPBL | c.7152A= (p.Gln2384=) n.1034A= c.1-12123A= (n.1-12123A=) c.6408A= (p.Gln2136=) c.6954A= (p.Gln2318=) c.6771A= (p.Gln2257=) c.6492A= (p.Gln2164=) c.5535A= (p.Gln1845=) c.5526A= (p.Gln1842=) | |
5 | g.37052455A>C | CA359511462 | NIPBL | c.7152A>C (p.Gln2384His) n.1034A>C c.1-12123A>C (n.1-12123A>C) c.6408A>C (p.Gln2136His) c.6954A>C (p.Gln2318His) c.6771A>C (p.Gln2257His) c.6492A>C (p.Gln2164His) c.5535A>C (p.Gln1845His) c.5526A>C (p.Gln1842His) | |
5 | g.37052455A>G | CA443911690 | NIPBL | c.7152A>G (p.Gln2384=) n.1034A>G c.1-12123A>G (n.1-12123A>G) c.6408A>G (p.Gln2136=) c.6954A>G (p.Gln2318=) c.6771A>G (p.Gln2257=) c.6492A>G (p.Gln2164=) c.5535A>G (p.Gln1845=) c.5526A>G (p.Gln1842=) | dbSNP gnomAD v2 |
5 | g.37052455A>T | CA359511463 | NIPBL | c.7152A>T (p.Gln2384His) n.1034A>T c.1-12123A>T (n.1-12123A>T) c.6408A>T (p.Gln2136His) c.6954A>T (p.Gln2318His) c.6771A>T (p.Gln2257His) c.6492A>T (p.Gln2164His) c.5535A>T (p.Gln1845His) c.5526A>T (p.Gln1842His) | |
5 | g.37052456G>A | CA359511465 | NIPBL | c.7153G>A (p.Asp2385Asn) n.1035G>A c.1-12122G>A (n.1-12122G>A) c.6409G>A (p.Asp2137Asn) c.6955G>A (p.Asp2319Asn) c.6772G>A (p.Asp2258Asn) c.6493G>A (p.Asp2165Asn) c.5536G>A (p.Asp1846Asn) c.5527G>A (p.Asp1843Asn) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37052456G>C | CA359511468 | NIPBL | c.7153G>C (p.Asp2385His) n.1035G>C c.1-12122G>C (n.1-12122G>C) c.6409G>C (p.Asp2137His) c.6955G>C (p.Asp2319His) c.6772G>C (p.Asp2258His) c.6493G>C (p.Asp2165His) c.5536G>C (p.Asp1846His) c.5527G>C (p.Asp1843His) | |
5 | g.37052456G= | CA1539572252 | NIPBL | c.7153G= (p.Asp2385=) n.1035G= c.1-12122G= (n.1-12122G=) c.6409G= (p.Asp2137=) c.6955G= (p.Asp2319=) c.6772G= (p.Asp2258=) c.6493G= (p.Asp2165=) c.5536G= (p.Asp1846=) c.5527G= (p.Asp1843=) | |
5 | g.37052456G>T | CA359511470 | NIPBL | c.7153G>T (p.Asp2385Tyr) n.1035G>T c.1-12122G>T (n.1-12122G>T) c.6409G>T (p.Asp2137Tyr) c.6955G>T (p.Asp2319Tyr) c.6772G>T (p.Asp2258Tyr) c.6493G>T (p.Asp2165Tyr) c.5536G>T (p.Asp1846Tyr) c.5527G>T (p.Asp1843Tyr) | gnomAD v4 |
5 | g.37052457A>C | CA359511477 | NIPBL | c.7154A>C (p.Asp2385Ala) n.1036A>C c.1-12121A>C (n.1-12121A>C) c.6410A>C (p.Asp2137Ala) c.6956A>C (p.Asp2319Ala) c.6773A>C (p.Asp2258Ala) c.6494A>C (p.Asp2165Ala) c.5537A>C (p.Asp1846Ala) c.5528A>C (p.Asp1843Ala) | |
5 | g.37052457A>G | CA359511476 | NIPBL | c.7154A>G (p.Asp2385Gly) n.1036A>G c.1-12121A>G (n.1-12121A>G) c.6410A>G (p.Asp2137Gly) c.6956A>G (p.Asp2319Gly) c.6773A>G (p.Asp2258Gly) c.6494A>G (p.Asp2165Gly) c.5537A>G (p.Asp1846Gly) c.5528A>G (p.Asp1843Gly) | gnomAD v4 |
5 | g.37052457A>T | CA359511473 | NIPBL | c.7154A>T (p.Asp2385Val) n.1036A>T c.1-12121A>T (n.1-12121A>T) c.6410A>T (p.Asp2137Val) c.6956A>T (p.Asp2319Val) c.6773A>T (p.Asp2258Val) c.6494A>T (p.Asp2165Val) c.5537A>T (p.Asp1846Val) c.5528A>T (p.Asp1843Val) | |
5 | g.37052458C>A | CA359511479 | NIPBL | c.7155C>A (p.Asp2385Glu) n.1037C>A c.1-12120C>A (n.1-12120C>A) c.6411C>A (p.Asp2137Glu) c.6957C>A (p.Asp2319Glu) c.6774C>A (p.Asp2258Glu) c.6495C>A (p.Asp2165Glu) c.5538C>A (p.Asp1846Glu) c.5529C>A (p.Asp1843Glu) | |
5 | g.37052458C= | CA1539572257 | NIPBL | c.7155C= (p.Asp2385=) n.1037C= c.1-12120C= (n.1-12120C=) c.6411C= (p.Asp2137=) c.6957C= (p.Asp2319=) c.6774C= (p.Asp2258=) c.6495C= (p.Asp2165=) c.5538C= (p.Asp1846=) c.5529C= (p.Asp1843=) | |
5 | g.37052458C>G | CA359511480 | NIPBL | c.7155C>G (p.Asp2385Glu) n.1037C>G c.1-12120C>G (n.1-12120C>G) c.6411C>G (p.Asp2137Glu) c.6957C>G (p.Asp2319Glu) c.6774C>G (p.Asp2258Glu) c.6495C>G (p.Asp2165Glu) c.5538C>G (p.Asp1846Glu) c.5529C>G (p.Asp1843Glu) | |
5 | g.37052458C>T | CA3237148 | NIPBL | c.7155C>T (p.Asp2385=) n.1037C>T c.1-12120C>T (n.1-12120C>T) c.6411C>T (p.Asp2137=) c.6957C>T (p.Asp2319=) c.6774C>T (p.Asp2258=) c.6495C>T (p.Asp2165=) c.5538C>T (p.Asp1846=) c.5529C>T (p.Asp1843=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052459G>A | CA359511485 | NIPBL | c.7156G>A (p.Glu2386Lys) n.1038G>A c.1-12119G>A (n.1-12119G>A) c.6412G>A (p.Glu2138Lys) c.6958G>A (p.Glu2320Lys) c.6775G>A (p.Glu2259Lys) c.6496G>A (p.Glu2166Lys) c.5539G>A (p.Glu1847Lys) c.5530G>A (p.Glu1844Lys) | gnomAD v4 COSMIC COSMIC |
5 | g.37052459G>C | CA359511487 | NIPBL | c.7156G>C (p.Glu2386Gln) n.1038G>C c.1-12119G>C (n.1-12119G>C) c.6412G>C (p.Glu2138Gln) c.6958G>C (p.Glu2320Gln) c.6775G>C (p.Glu2259Gln) c.6496G>C (p.Glu2166Gln) c.5539G>C (p.Glu1847Gln) c.5530G>C (p.Glu1844Gln) | |
5 | g.37052459G>T | CA359511488 | NIPBL | c.7156G>T (p.Glu2386Ter) n.1038G>T c.1-12119G>T (n.1-12119G>T) c.6412G>T (p.Glu2138Ter) c.6958G>T (p.Glu2320Ter) c.6775G>T (p.Glu2259Ter) c.6496G>T (p.Glu2166Ter) c.5539G>T (p.Glu1847Ter) c.5530G>T (p.Glu1844Ter) | |
5 | g.37052460A>C | CA359511491 | NIPBL | c.7157A>C (p.Glu2386Ala) n.1039A>C c.1-12118A>C (n.1-12118A>C) c.6413A>C (p.Glu2138Ala) c.6959A>C (p.Glu2320Ala) c.6776A>C (p.Glu2259Ala) c.6497A>C (p.Glu2166Ala) c.5540A>C (p.Glu1847Ala) c.5531A>C (p.Glu1844Ala) | |
5 | g.37052460A>G | CA359511492 | NIPBL | c.7157A>G (p.Glu2386Gly) n.1039A>G c.1-12118A>G (n.1-12118A>G) c.6413A>G (p.Glu2138Gly) c.6959A>G (p.Glu2320Gly) c.6776A>G (p.Glu2259Gly) c.6497A>G (p.Glu2166Gly) c.5540A>G (p.Glu1847Gly) c.5531A>G (p.Glu1844Gly) | |
5 | g.37052460A>T | CA359511495 | NIPBL | c.7157A>T (p.Glu2386Val) n.1039A>T c.1-12118A>T (n.1-12118A>T) c.6413A>T (p.Glu2138Val) c.6959A>T (p.Glu2320Val) c.6776A>T (p.Glu2259Val) c.6497A>T (p.Glu2166Val) c.5540A>T (p.Glu1847Val) c.5531A>T (p.Glu1844Val) | |
5 | g.37052461G>A | CA443911714 | NIPBL | c.7158G>A (p.Glu2386=) n.1040G>A c.1-12117G>A (n.1-12117G>A) c.6414G>A (p.Glu2138=) c.6960G>A (p.Glu2320=) c.6777G>A (p.Glu2259=) c.6498G>A (p.Glu2166=) c.5541G>A (p.Glu1847=) c.5532G>A (p.Glu1844=) | gnomAD v4 |
5 | g.37052461G>C | CA359511498 | NIPBL | c.7158G>C (p.Glu2386Asp) n.1040G>C c.1-12117G>C (n.1-12117G>C) c.6414G>C (p.Glu2138Asp) c.6960G>C (p.Glu2320Asp) c.6777G>C (p.Glu2259Asp) c.6498G>C (p.Glu2166Asp) c.5541G>C (p.Glu1847Asp) c.5532G>C (p.Glu1844Asp) | gnomAD v4 |
5 | g.37052461G>T | CA359511501 | NIPBL | c.7158G>T (p.Glu2386Asp) n.1040G>T c.1-12117G>T (n.1-12117G>T) c.6414G>T (p.Glu2138Asp) c.6960G>T (p.Glu2320Asp) c.6777G>T (p.Glu2259Asp) c.6498G>T (p.Glu2166Asp) c.5541G>T (p.Glu1847Asp) c.5532G>T (p.Glu1844Asp) | |
5 | g.37052462T>A | CA359511505 | NIPBL | c.7159T>A (p.Ser2387Thr) n.1041T>A c.1-12116T>A (n.1-12116T>A) c.6415T>A (p.Ser2139Thr) c.6961T>A (p.Ser2321Thr) c.6778T>A (p.Ser2260Thr) c.6499T>A (p.Ser2167Thr) c.5542T>A (p.Ser1848Thr) c.5533T>A (p.Ser1845Thr) | |
5 | g.37052462T>C | CA359511503 | NIPBL | c.7159T>C (p.Ser2387Pro) n.1041T>C c.1-12116T>C (n.1-12116T>C) c.6415T>C (p.Ser2139Pro) c.6961T>C (p.Ser2321Pro) c.6778T>C (p.Ser2260Pro) c.6499T>C (p.Ser2167Pro) c.5542T>C (p.Ser1848Pro) c.5533T>C (p.Ser1845Pro) | |
5 | g.37052462T>G | CA359511502 | NIPBL | c.7159T>G (p.Ser2387Ala) n.1041T>G c.1-12116T>G (n.1-12116T>G) c.6415T>G (p.Ser2139Ala) c.6961T>G (p.Ser2321Ala) c.6778T>G (p.Ser2260Ala) c.6499T>G (p.Ser2167Ala) c.5542T>G (p.Ser1848Ala) c.5533T>G (p.Ser1845Ala) | dbSNP |
5 | g.37052462T= | CA1539572263 | NIPBL | c.7159T= (p.Ser2387=) n.1041T= c.1-12116T= (n.1-12116T=) c.6415T= (p.Ser2139=) c.6961T= (p.Ser2321=) c.6778T= (p.Ser2260=) c.6499T= (p.Ser2167=) c.5542T= (p.Ser1848=) c.5533T= (p.Ser1845=) | |
5 | g.37052463C>A | CA359511507 | NIPBL | c.7160C>A (p.Ser2387Tyr) n.1042C>A c.1-12115C>A (n.1-12115C>A) c.6416C>A (p.Ser2139Tyr) c.6962C>A (p.Ser2321Tyr) c.6779C>A (p.Ser2260Tyr) c.6500C>A (p.Ser2167Tyr) c.5543C>A (p.Ser1848Tyr) c.5534C>A (p.Ser1845Tyr) | |
5 | g.37052463C>G | CA359511508 | NIPBL | c.7160C>G (p.Ser2387Cys) n.1042C>G c.1-12115C>G (n.1-12115C>G) c.6416C>G (p.Ser2139Cys) c.6962C>G (p.Ser2321Cys) c.6779C>G (p.Ser2260Cys) c.6500C>G (p.Ser2167Cys) c.5543C>G (p.Ser1848Cys) c.5534C>G (p.Ser1845Cys) | |
5 | g.37052463C>T | CA359511510 | NIPBL | c.7160C>T (p.Ser2387Phe) n.1042C>T c.1-12115C>T (n.1-12115C>T) c.6416C>T (p.Ser2139Phe) c.6962C>T (p.Ser2321Phe) c.6779C>T (p.Ser2260Phe) c.6500C>T (p.Ser2167Phe) c.5543C>T (p.Ser1848Phe) c.5534C>T (p.Ser1845Phe) | |
5 | g.37052464C>A | CA443911729 | NIPBL | c.7161C>A (p.Ser2387=) n.1043C>A c.1-12114C>A (n.1-12114C>A) c.6417C>A (p.Ser2139=) c.6963C>A (p.Ser2321=) c.6780C>A (p.Ser2260=) c.6501C>A (p.Ser2167=) c.5544C>A (p.Ser1848=) c.5535C>A (p.Ser1845=) | |
5 | g.37052464C= | CA1539572268 | NIPBL | c.7161C= (p.Ser2387=) n.1043C= c.1-12114C= (n.1-12114C=) c.6417C= (p.Ser2139=) c.6963C= (p.Ser2321=) c.6780C= (p.Ser2260=) c.6501C= (p.Ser2167=) c.5544C= (p.Ser1848=) c.5535C= (p.Ser1845=) | |
5 | g.37052464C>G | CA443911731 | NIPBL | c.7161C>G (p.Ser2387=) n.1043C>G c.1-12114C>G (n.1-12114C>G) c.6417C>G (p.Ser2139=) c.6963C>G (p.Ser2321=) c.6780C>G (p.Ser2260=) c.6501C>G (p.Ser2167=) c.5544C>G (p.Ser1848=) c.5535C>G (p.Ser1845=) | gnomAD v4 |
5 | g.37052464C>T | CA443911733 | NIPBL | c.7161C>T (p.Ser2387=) n.1043C>T c.1-12114C>T (n.1-12114C>T) c.6417C>T (p.Ser2139=) c.6963C>T (p.Ser2321=) c.6780C>T (p.Ser2260=) c.6501C>T (p.Ser2167=) c.5544C>T (p.Ser1848=) c.5535C>T (p.Ser1845=) | dbSNP |
5 | g.37052465T>A | CA359511511 | NIPBL | c.7162T>A (p.Ser2388Thr) n.1044T>A c.1-12113T>A (n.1-12113T>A) c.6418T>A (p.Ser2140Thr) c.6964T>A (p.Ser2322Thr) c.6781T>A (p.Ser2261Thr) c.6502T>A (p.Ser2168Thr) c.5545T>A (p.Ser1849Thr) c.5536T>A (p.Ser1846Thr) | |
5 | g.37052465T>C | CA359511514 | NIPBL | c.7162T>C (p.Ser2388Pro) n.1044T>C c.1-12113T>C (n.1-12113T>C) c.6418T>C (p.Ser2140Pro) c.6964T>C (p.Ser2322Pro) c.6781T>C (p.Ser2261Pro) c.6502T>C (p.Ser2168Pro) c.5545T>C (p.Ser1849Pro) c.5536T>C (p.Ser1846Pro) | |
5 | g.37052465T>G | CA359511515 | NIPBL | c.7162T>G (p.Ser2388Ala) n.1044T>G c.1-12113T>G (n.1-12113T>G) c.6418T>G (p.Ser2140Ala) c.6964T>G (p.Ser2322Ala) c.6781T>G (p.Ser2261Ala) c.6502T>G (p.Ser2168Ala) c.5545T>G (p.Ser1849Ala) c.5536T>G (p.Ser1846Ala) | |
5 | g.37052466C>A | CA359511520 | NIPBL | c.7163C>A (p.Ser2388Tyr) n.1045C>A c.1-12112C>A (n.1-12112C>A) c.6419C>A (p.Ser2140Tyr) c.6965C>A (p.Ser2322Tyr) c.6782C>A (p.Ser2261Tyr) c.6503C>A (p.Ser2168Tyr) c.5546C>A (p.Ser1849Tyr) c.5537C>A (p.Ser1846Tyr) | |
5 | g.37052466C= | CA1539572274 | NIPBL | c.7163C= (p.Ser2388=) n.1045C= c.1-12112C= (n.1-12112C=) c.6419C= (p.Ser2140=) c.6965C= (p.Ser2322=) c.6782C= (p.Ser2261=) c.6503C= (p.Ser2168=) c.5546C= (p.Ser1849=) c.5537C= (p.Ser1846=) | |
5 | g.37052466C>G | CA359511517 | NIPBL | c.7163C>G (p.Ser2388Cys) n.1045C>G c.1-12112C>G (n.1-12112C>G) c.6419C>G (p.Ser2140Cys) c.6965C>G (p.Ser2322Cys) c.6782C>G (p.Ser2261Cys) c.6503C>G (p.Ser2168Cys) c.5546C>G (p.Ser1849Cys) c.5537C>G (p.Ser1846Cys) | dbSNP gnomAD v4 |
5 | g.37052466C>T | CA359511518 | NIPBL | c.7163C>T (p.Ser2388Phe) n.1045C>T c.1-12112C>T (n.1-12112C>T) c.6419C>T (p.Ser2140Phe) c.6965C>T (p.Ser2322Phe) c.6782C>T (p.Ser2261Phe) c.6503C>T (p.Ser2168Phe) c.5546C>T (p.Ser1849Phe) c.5537C>T (p.Ser1846Phe) | |
5 | g.37052467T>A | CA3237150 | NIPBL | c.7164T>A (p.Ser2388=) n.1046T>A c.1-12111T>A (n.1-12111T>A) c.6420T>A (p.Ser2140=) c.6966T>A (p.Ser2322=) c.6783T>A (p.Ser2261=) c.6504T>A (p.Ser2168=) c.5547T>A (p.Ser1849=) c.5538T>A (p.Ser1846=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.37052467T>C | CA3237149 | NIPBL | c.7164T>C (p.Ser2388=) n.1046T>C c.1-12111T>C (n.1-12111T>C) c.6420T>C (p.Ser2140=) c.6966T>C (p.Ser2322=) c.6783T>C (p.Ser2261=) c.6504T>C (p.Ser2168=) c.5547T>C (p.Ser1849=) c.5538T>C (p.Ser1846=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052467T>G | CA443911748 | NIPBL | c.7164T>G (p.Ser2388=) n.1046T>G c.1-12111T>G (n.1-12111T>G) c.6420T>G (p.Ser2140=) c.6966T>G (p.Ser2322=) c.6783T>G (p.Ser2261=) c.6504T>G (p.Ser2168=) c.5547T>G (p.Ser1849=) c.5538T>G (p.Ser1846=) | |
5 | g.37052467T= | CA1539572281 | NIPBL | c.7164T= (p.Ser2388=) n.1046T= c.1-12111T= (n.1-12111T=) c.6420T= (p.Ser2140=) c.6966T= (p.Ser2322=) c.6783T= (p.Ser2261=) c.6504T= (p.Ser2168=) c.5547T= (p.Ser1849=) c.5538T= (p.Ser1846=) | |
5 | g.37052468A= | CA1539572287 | NIPBL | c.7165A= (p.Ser2389=) n.1047A= c.1-12110A= (n.1-12110A=) c.6421A= (p.Ser2141=) c.6967A= (p.Ser2323=) c.6784A= (p.Ser2262=) c.6505A= (p.Ser2169=) c.5548A= (p.Ser1850=) c.5539A= (p.Ser1847=) | |
5 | g.37052468A>C | CA359511526 | NIPBL | c.7165A>C (p.Ser2389Arg) n.1047A>C c.1-12110A>C (n.1-12110A>C) c.6421A>C (p.Ser2141Arg) c.6967A>C (p.Ser2323Arg) c.6784A>C (p.Ser2262Arg) c.6505A>C (p.Ser2169Arg) c.5548A>C (p.Ser1850Arg) c.5539A>C (p.Ser1847Arg) | |
5 | g.37052468A>G | CA359511529 | NIPBL | c.7165A>G (p.Ser2389Gly) n.1047A>G c.1-12110A>G (n.1-12110A>G) c.6421A>G (p.Ser2141Gly) c.6967A>G (p.Ser2323Gly) c.6784A>G (p.Ser2262Gly) c.6505A>G (p.Ser2169Gly) c.5548A>G (p.Ser1850Gly) c.5539A>G (p.Ser1847Gly) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.37052468A>T | CA359511532 | NIPBL | c.7165A>T (p.Ser2389Cys) n.1047A>T c.1-12110A>T (n.1-12110A>T) c.6421A>T (p.Ser2141Cys) c.6967A>T (p.Ser2323Cys) c.6784A>T (p.Ser2262Cys) c.6505A>T (p.Ser2169Cys) c.5548A>T (p.Ser1850Cys) c.5539A>T (p.Ser1847Cys) | |
5 | g.37052469G>A | CA359511534 | NIPBL | c.7166G>A (p.Ser2389Asn) n.1048G>A c.1-12109G>A (n.1-12109G>A) c.6422G>A (p.Ser2141Asn) c.6968G>A (p.Ser2323Asn) c.6785G>A (p.Ser2262Asn) c.6506G>A (p.Ser2169Asn) c.5549G>A (p.Ser1850Asn) c.5540G>A (p.Ser1847Asn) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.37052469G>C | CA359511539 | NIPBL | c.7166G>C (p.Ser2389Thr) n.1048G>C c.1-12109G>C (n.1-12109G>C) c.6422G>C (p.Ser2141Thr) c.6968G>C (p.Ser2323Thr) c.6785G>C (p.Ser2262Thr) c.6506G>C (p.Ser2169Thr) c.5549G>C (p.Ser1850Thr) c.5540G>C (p.Ser1847Thr) | |
5 | g.37052469G= | CA1539572290 | NIPBL | c.7166G= (p.Ser2389=) n.1048G= c.1-12109G= (n.1-12109G=) c.6422G= (p.Ser2141=) c.6968G= (p.Ser2323=) c.6785G= (p.Ser2262=) c.6506G= (p.Ser2169=) c.5549G= (p.Ser1850=) c.5540G= (p.Ser1847=) | |
5 | g.37052469G>T | CA3237151 | NIPBL | c.7166G>T (p.Ser2389Ile) n.1048G>T c.1-12109G>T (n.1-12109G>T) c.6422G>T (p.Ser2141Ile) c.6968G>T (p.Ser2323Ile) c.6785G>T (p.Ser2262Ile) c.6506G>T (p.Ser2169Ile) c.5549G>T (p.Ser1850Ile) c.5540G>T (p.Ser1847Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052470C>A | CA359511544 | NIPBL | c.7167C>A (p.Ser2389Arg) n.1049C>A c.1-12108C>A (n.1-12108C>A) c.6423C>A (p.Ser2141Arg) c.6969C>A (p.Ser2323Arg) c.6786C>A (p.Ser2262Arg) c.6507C>A (p.Ser2169Arg) c.5550C>A (p.Ser1850Arg) c.5541C>A (p.Ser1847Arg) | |
5 | g.37052470C= | CA1539572292 | NIPBL | c.7167C= (p.Ser2389=) n.1049C= c.1-12108C= (n.1-12108C=) c.6423C= (p.Ser2141=) c.6969C= (p.Ser2323=) c.6786C= (p.Ser2262=) c.6507C= (p.Ser2169=) c.5550C= (p.Ser1850=) c.5541C= (p.Ser1847=) | |
5 | g.37052470C>G | CA359511546 | NIPBL | c.7167C>G (p.Ser2389Arg) n.1049C>G c.1-12108C>G (n.1-12108C>G) c.6423C>G (p.Ser2141Arg) c.6969C>G (p.Ser2323Arg) c.6786C>G (p.Ser2262Arg) c.6507C>G (p.Ser2169Arg) c.5550C>G (p.Ser1850Arg) c.5541C>G (p.Ser1847Arg) | |
5 | g.37052470C>T | CA443911760 | NIPBL | c.7167C>T (p.Ser2389=) n.1049C>T c.1-12108C>T (n.1-12108C>T) c.6423C>T (p.Ser2141=) c.6969C>T (p.Ser2323=) c.6786C>T (p.Ser2262=) c.6507C>T (p.Ser2169=) c.5550C>T (p.Ser1850=) c.5541C>T (p.Ser1847=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052471G>A | CA272292 | NIPBL | c.7168G>A (p.Ala2390Thr) n.1050G>A c.1-12107G>A (n.1-12107G>A) c.6424G>A (p.Ala2142Thr) c.6970G>A (p.Ala2324Thr) c.6787G>A (p.Ala2263Thr) c.6508G>A (p.Ala2170Thr) c.5551G>A (p.Ala1851Thr) c.5542G>A (p.Ala1848Thr) | ClinVar dbSNP COSMIC COSMIC |
5 | g.37052471G>C | CA359511551 | NIPBL | c.7168G>C (p.Ala2390Pro) n.1050G>C c.1-12107G>C (n.1-12107G>C) c.6424G>C (p.Ala2142Pro) c.6970G>C (p.Ala2324Pro) c.6787G>C (p.Ala2263Pro) c.6508G>C (p.Ala2170Pro) c.5551G>C (p.Ala1851Pro) c.5542G>C (p.Ala1848Pro) | |
5 | g.37052471G= | CA1539572303 | NIPBL | c.7168G= (p.Ala2390=) n.1050G= c.1-12107G= (n.1-12107G=) c.6424G= (p.Ala2142=) c.6970G= (p.Ala2324=) c.6787G= (p.Ala2263=) c.6508G= (p.Ala2170=) c.5551G= (p.Ala1851=) c.5542G= (p.Ala1848=) | |
5 | g.37052471G>T | CA359511555 | NIPBL | c.7168G>T (p.Ala2390Ser) n.1050G>T c.1-12107G>T (n.1-12107G>T) c.6424G>T (p.Ala2142Ser) c.6970G>T (p.Ala2324Ser) c.6787G>T (p.Ala2263Ser) c.6508G>T (p.Ala2170Ser) c.5551G>T (p.Ala1851Ser) c.5542G>T (p.Ala1848Ser) | ClinVar COSMIC COSMIC |
5 | g.37052472C>A | CA359511558 | NIPBL | c.7169C>A (p.Ala2390Asp) n.1051C>A c.1-12106C>A (n.1-12106C>A) c.6425C>A (p.Ala2142Asp) c.6971C>A (p.Ala2324Asp) c.6788C>A (p.Ala2263Asp) c.6509C>A (p.Ala2170Asp) c.5552C>A (p.Ala1851Asp) c.5543C>A (p.Ala1848Asp) | |
5 | g.37052472C>G | CA359511561 | NIPBL | c.7169C>G (p.Ala2390Gly) n.1051C>G c.1-12106C>G (n.1-12106C>G) c.6425C>G (p.Ala2142Gly) c.6971C>G (p.Ala2324Gly) c.6788C>G (p.Ala2263Gly) c.6509C>G (p.Ala2170Gly) c.5552C>G (p.Ala1851Gly) c.5543C>G (p.Ala1848Gly) | |
5 | g.37052472C>T | CA359511567 | NIPBL | c.7169C>T (p.Ala2390Val) n.1051C>T c.1-12106C>T (n.1-12106C>T) c.6425C>T (p.Ala2142Val) c.6971C>T (p.Ala2324Val) c.6788C>T (p.Ala2263Val) c.6509C>T (p.Ala2170Val) c.5552C>T (p.Ala1851Val) c.5543C>T (p.Ala1848Val) | ClinVar |
5 | g.37052473T>A | CA443911777 | NIPBL | c.7170T>A (p.Ala2390=) n.1052T>A c.1-12105T>A (n.1-12105T>A) c.6426T>A (p.Ala2142=) c.6972T>A (p.Ala2324=) c.6789T>A (p.Ala2263=) c.6510T>A (p.Ala2170=) c.5553T>A (p.Ala1851=) c.5544T>A (p.Ala1848=) | |
5 | g.37052473T>C | CA443911773 | NIPBL | c.7170T>C (p.Ala2390=) n.1052T>C c.1-12105T>C (n.1-12105T>C) c.6426T>C (p.Ala2142=) c.6972T>C (p.Ala2324=) c.6789T>C (p.Ala2263=) c.6510T>C (p.Ala2170=) c.5553T>C (p.Ala1851=) c.5544T>C (p.Ala1848=) | |
5 | g.37052473T>G | CA443911775 | NIPBL | c.7170T>G (p.Ala2390=) n.1052T>G c.1-12105T>G (n.1-12105T>G) c.6426T>G (p.Ala2142=) c.6972T>G (p.Ala2324=) c.6789T>G (p.Ala2263=) c.6510T>G (p.Ala2170=) c.5553T>G (p.Ala1851=) c.5544T>G (p.Ala1848=) | |
5 | g.37052474T>A | CA359511568 | NIPBL | c.7171T>A (p.Leu2391Met) n.1053T>A c.1-12104T>A (n.1-12104T>A) c.6427T>A (p.Leu2143Met) c.6973T>A (p.Leu2325Met) c.6790T>A (p.Leu2264Met) c.6511T>A (p.Leu2171Met) c.5554T>A (p.Leu1852Met) c.5545T>A (p.Leu1849Met) | |
5 | g.37052474T>C | CA443911781 | NIPBL | c.7171T>C (p.Leu2391=) n.1053T>C c.1-12104T>C (n.1-12104T>C) c.6427T>C (p.Leu2143=) c.6973T>C (p.Leu2325=) c.6790T>C (p.Leu2264=) c.6511T>C (p.Leu2171=) c.5554T>C (p.Leu1852=) c.5545T>C (p.Leu1849=) | |
5 | g.37052474T>G | CA359511570 | NIPBL | c.7171T>G (p.Leu2391Val) n.1053T>G c.1-12104T>G (n.1-12104T>G) c.6427T>G (p.Leu2143Val) c.6973T>G (p.Leu2325Val) c.6790T>G (p.Leu2264Val) c.6511T>G (p.Leu2171Val) c.5554T>G (p.Leu1852Val) c.5545T>G (p.Leu1849Val) | |
5 | g.37052475T>A | CA359511578 | NIPBL | c.7172T>A (p.Leu2391Ter) n.1054T>A c.1-12103T>A (n.1-12103T>A) c.6428T>A (p.Leu2143Ter) c.6974T>A (p.Leu2325Ter) c.6791T>A (p.Leu2264Ter) c.6512T>A (p.Leu2171Ter) c.5555T>A (p.Leu1852Ter) c.5546T>A (p.Leu1849Ter) | |
5 | g.37052475T>C | CA359511574 | NIPBL | c.7172T>C (p.Leu2391Ser) n.1054T>C c.1-12103T>C (n.1-12103T>C) c.6428T>C (p.Leu2143Ser) c.6974T>C (p.Leu2325Ser) c.6791T>C (p.Leu2264Ser) c.6512T>C (p.Leu2171Ser) c.5555T>C (p.Leu1852Ser) c.5546T>C (p.Leu1849Ser) | gnomAD v4 |
5 | g.37052475T>G | CA359511573 | NIPBL | c.7172T>G (p.Leu2391Trp) n.1054T>G c.1-12103T>G (n.1-12103T>G) c.6428T>G (p.Leu2143Trp) c.6974T>G (p.Leu2325Trp) c.6791T>G (p.Leu2264Trp) c.6512T>G (p.Leu2171Trp) c.5555T>G (p.Leu1852Trp) c.5546T>G (p.Leu1849Trp) | |
5 | g.37052476G>A | CA443911789 | NIPBL | c.7173G>A (p.Leu2391=) n.1055G>A c.1-12102G>A (n.1-12102G>A) c.6429G>A (p.Leu2143=) c.6975G>A (p.Leu2325=) c.6792G>A (p.Leu2264=) c.6513G>A (p.Leu2171=) c.5556G>A (p.Leu1852=) c.5547G>A (p.Leu1849=) | |
5 | g.37052476G>C | CA359511580 | NIPBL | c.7173G>C (p.Leu2391Phe) n.1055G>C c.1-12102G>C (n.1-12102G>C) c.6429G>C (p.Leu2143Phe) c.6975G>C (p.Leu2325Phe) c.6792G>C (p.Leu2264Phe) c.6513G>C (p.Leu2171Phe) c.5556G>C (p.Leu1852Phe) c.5547G>C (p.Leu1849Phe) | |
5 | g.37052476G= | CA1539572306 | NIPBL | c.7173G= (p.Leu2391=) n.1055G= c.1-12102G= (n.1-12102G=) c.6429G= (p.Leu2143=) c.6975G= (p.Leu2325=) c.6792G= (p.Leu2264=) c.6513G= (p.Leu2171=) c.5556G= (p.Leu1852=) c.5547G= (p.Leu1849=) | |
5 | g.37052476G>T | CA3237152 | NIPBL | c.7173G>T (p.Leu2391Phe) n.1055G>T c.1-12102G>T (n.1-12102G>T) c.6429G>T (p.Leu2143Phe) c.6975G>T (p.Leu2325Phe) c.6792G>T (p.Leu2264Phe) c.6513G>T (p.Leu2171Phe) c.5556G>T (p.Leu1852Phe) c.5547G>T (p.Leu1849Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.37052477T>A | CA359511583 | NIPBL | c.7174T>A (p.Cys2392Ser) n.1056T>A c.1-12101T>A (n.1-12101T>A) c.6430T>A (p.Cys2144Ser) c.6976T>A (p.Cys2326Ser) c.6793T>A (p.Cys2265Ser) c.6514T>A (p.Cys2172Ser) c.5557T>A (p.Cys1853Ser) c.5548T>A (p.Cys1850Ser) | |
5 | g.37052477T>C | CA359511588 | NIPBL | c.7174T>C (p.Cys2392Arg) n.1056T>C c.1-12101T>C (n.1-12101T>C) c.6430T>C (p.Cys2144Arg) c.6976T>C (p.Cys2326Arg) c.6793T>C (p.Cys2265Arg) c.6514T>C (p.Cys2172Arg) c.5557T>C (p.Cys1853Arg) c.5548T>C (p.Cys1850Arg) | COSMIC COSMIC |
5 | g.37052477T>G | CA359511585 | NIPBL | c.7174T>G (p.Cys2392Gly) n.1056T>G c.1-12101T>G (n.1-12101T>G) c.6430T>G (p.Cys2144Gly) c.6976T>G (p.Cys2326Gly) c.6793T>G (p.Cys2265Gly) c.6514T>G (p.Cys2172Gly) c.5557T>G (p.Cys1853Gly) c.5548T>G (p.Cys1850Gly) |