Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36976179A>CCA359486216NIPBLc.1272A>C (p.Glu424Asp)
c.528A>C (p.Glu176Asp)
c.612A>C (p.Glu204Asp)
n.892A>C
c.1-88399A>C (p.=)
5g.36976179A>GCA444095446NIPBLc.1272A>G (p.Glu424=)
c.528A>G (p.Glu176=)
c.612A>G (p.Glu204=)
n.892A>G
c.1-88399A>G (p.=)
5g.36976179A>TCA359486219NIPBLc.1272A>T (p.Glu424Asp)
c.528A>T (p.Glu176Asp)
c.612A>T (p.Glu204Asp)
n.892A>T
c.1-88399A>T (p.=)
5g.36976180C>ACA359486220NIPBLc.1273C>A (p.Gln425Lys)
c.529C>A (p.Gln177Lys)
c.613C>A (p.Gln205Lys)
n.893C>A
c.1-88398C>A (p.=)
5g.36976180C>GCA359486221NIPBLc.1273C>G (p.Gln425Glu)
c.529C>G (p.Gln177Glu)
c.613C>G (p.Gln205Glu)
n.893C>G
c.1-88398C>G (p.=)
ClinVar
5g.36976180C>TCA359486224NIPBLc.1273C>T (p.Gln425Ter)
c.529C>T (p.Gln177Ter)
c.613C>T (p.Gln205Ter)
n.893C>T
c.1-88398C>T (p.=)
5g.36976181A>CCA359486228NIPBLc.1274A>C (p.Gln425Pro)
c.530A>C (p.Gln177Pro)
c.614A>C (p.Gln205Pro)
n.894A>C
c.1-88397A>C (p.=)
5g.36976181A>GCA359486231NIPBLc.1274A>G (p.Gln425Arg)
c.530A>G (p.Gln177Arg)
c.614A>G (p.Gln205Arg)
n.894A>G
c.1-88397A>G (p.=)
5g.36976181A>TCA359486234NIPBLc.1274A>T (p.Gln425Leu)
c.530A>T (p.Gln177Leu)
c.614A>T (p.Gln205Leu)
n.894A>T
c.1-88397A>T (p.=)
5g.36976182A>CCA359486238NIPBLc.1275A>C (p.Gln425His)
c.531A>C (p.Gln177His)
c.615A>C (p.Gln205His)
n.895A>C
c.1-88396A>C (p.=)
5g.36976182A>GCA117031878NIPBLc.1275A>G (p.Gln425=)
c.531A>G (p.Gln177=)
c.615A>G (p.Gln205=)
n.895A>G
c.1-88396A>G (p.=)
dbSNP
5g.36976182A>TCA359486241NIPBLc.1275A>T (p.Gln425His)
c.531A>T (p.Gln177His)
c.615A>T (p.Gln205His)
n.895A>T
c.1-88396A>T (p.=)
5g.36976183A>CCA359486245NIPBLc.1276A>C (p.Thr426Pro)
c.532A>C (p.Thr178Pro)
c.616A>C (p.Thr206Pro)
n.896A>C
c.1-88395A>C (p.=)
5g.36976183A>GCA359486248NIPBLc.1276A>G (p.Thr426Ala)
c.532A>G (p.Thr178Ala)
c.616A>G (p.Thr206Ala)
n.896A>G
c.1-88395A>G (p.=)
5g.36976183A>TCA359486250NIPBLc.1276A>T (p.Thr426Ser)
c.532A>T (p.Thr178Ser)
c.616A>T (p.Thr206Ser)
n.896A>T
c.1-88395A>T (p.=)
5g.36976184C>ACA359486255NIPBLc.1277C>A (p.Thr426Lys)
c.533C>A (p.Thr178Lys)
c.617C>A (p.Thr206Lys)
n.897C>A
c.1-88394C>A (p.=)
5g.36976184C>GCA359486258NIPBLc.1277C>G (p.Thr426Arg)
c.533C>G (p.Thr178Arg)
c.617C>G (p.Thr206Arg)
n.897C>G
c.1-88394C>G (p.=)
5g.36976184C>TCA3236005NIPBLc.1277C>T (p.Thr426Ile)
c.533C>T (p.Thr178Ile)
c.617C>T (p.Thr206Ile)
n.897C>T
c.1-88394C>T (p.=)
dbSNP ExAC gnomAD
5g.36976185A>CCA444095458NIPBLc.1278A>C (p.Thr426=)
c.534A>C (p.Thr178=)
c.618A>C (p.Thr206=)
n.898A>C
c.1-88393A>C (p.=)
5g.36976185A>GCA3236006NIPBLc.1278A>G (p.Thr426=)
c.534A>G (p.Thr178=)
c.618A>G (p.Thr206=)
n.898A>G
c.1-88393A>G (p.=)
dbSNP ExAC gnomAD
5g.36976185A>TCA117031885NIPBLc.1278A>T (p.Thr426=)
c.534A>T (p.Thr178=)
c.618A>T (p.Thr206=)
n.898A>T
c.1-88393A>T (p.=)
dbSNP
5g.36976186G>ACA359486261NIPBLc.1279G>A (p.Ala427Thr)
c.535G>A (p.Ala179Thr)
c.619G>A (p.Ala207Thr)
n.899G>A
c.1-88392G>A (p.=)
5g.36976186G>CCA359486262NIPBLc.1279G>C (p.Ala427Pro)
c.535G>C (p.Ala179Pro)
c.619G>C (p.Ala207Pro)
n.899G>C
c.1-88392G>C (p.=)
5g.36976186G>TCA359486263NIPBLc.1279G>T (p.Ala427Ser)
c.535G>T (p.Ala179Ser)
c.619G>T (p.Ala207Ser)
n.899G>T
c.1-88392G>T (p.=)
5g.36976187C>ACA359486265NIPBLc.1280C>A (p.Ala427Glu)
c.536C>A (p.Ala179Glu)
c.620C>A (p.Ala207Glu)
n.900C>A
c.1-88391C>A (p.=)
5g.36976187C>GCA359486267NIPBLc.1280C>G (p.Ala427Gly)
c.536C>G (p.Ala179Gly)
c.620C>G (p.Ala207Gly)
n.900C>G
c.1-88391C>G (p.=)
5g.36976187C>TCA359486269NIPBLc.1280C>T (p.Ala427Val)
c.536C>T (p.Ala179Val)
c.620C>T (p.Ala207Val)
n.900C>T
c.1-88391C>T (p.=)
5g.36976188A>CCA444095461NIPBLc.1281A>C (p.Ala427=)
c.537A>C (p.Ala179=)
c.621A>C (p.Ala207=)
n.901A>C
c.1-88390A>C (p.=)
5g.36976188A>GCA3236007NIPBLc.1281A>G (p.Ala427=)
c.537A>G (p.Ala179=)
c.621A>G (p.Ala207=)
n.901A>G
c.1-88390A>G (p.=)
dbSNP ExAC gnomAD
5g.36976188A>TCA444095463NIPBLc.1281A>T (p.Ala427=)
c.537A>T (p.Ala179=)
c.621A>T (p.Ala207=)
n.901A>T
c.1-88390A>T (p.=)
5g.36976189T>ACA359486272NIPBLc.1282T>A (p.Phe428Ile)
c.538T>A (p.Phe180Ile)
c.622T>A (p.Phe208Ile)
n.902T>A
c.1-88389T>A (p.=)
5g.36976189T>CCA359486274NIPBLc.1282T>C (p.Phe428Leu)
c.538T>C (p.Phe180Leu)
c.622T>C (p.Phe208Leu)
n.902T>C
c.1-88389T>C (p.=)
5g.36976189T>GCA359486282NIPBLc.1282T>G (p.Phe428Val)
c.538T>G (p.Phe180Val)
c.622T>G (p.Phe208Val)
n.902T>G
c.1-88389T>G (p.=)
5g.36976190T>ACA359486285NIPBLc.1283T>A (p.Phe428Tyr)
c.539T>A (p.Phe180Tyr)
c.623T>A (p.Phe208Tyr)
n.903T>A
c.1-88388T>A (p.=)
5g.36976190T>CCA359486286NIPBLc.1283T>C (p.Phe428Ser)
c.539T>C (p.Phe180Ser)
c.623T>C (p.Phe208Ser)
n.903T>C
c.1-88388T>C (p.=)
5g.36976190T>GCA359486289NIPBLc.1283T>G (p.Phe428Cys)
c.539T>G (p.Phe180Cys)
c.623T>G (p.Phe208Cys)
n.903T>G
c.1-88388T>G (p.=)
5g.36976191C>ACA359486295NIPBLc.1284C>A (p.Phe428Leu)
c.540C>A (p.Phe180Leu)
c.624C>A (p.Phe208Leu)
n.904C>A
c.1-88387C>A (p.=)
5g.36976191C>GCA359486293NIPBLc.1284C>G (p.Phe428Leu)
c.540C>G (p.Phe180Leu)
c.624C>G (p.Phe208Leu)
n.904C>G
c.1-88387C>G (p.=)
5g.36976191C>TCA3236008NIPBLc.1284C>T (p.Phe428=)
c.540C>T (p.Phe180=)
c.624C>T (p.Phe208=)
n.904C>T
c.1-88387C>T (p.=)
dbSNP ExAC gnomAD
5g.36976192C>ACA359486298NIPBLc.1285C>A (p.Leu429Ile)
c.541C>A (p.Leu181Ile)
c.625C>A (p.Leu209Ile)
n.905C>A
c.1-88386C>A (p.=)
5g.36976192C>GCA359486300NIPBLc.1285C>G (p.Leu429Val)
c.541C>G (p.Leu181Val)
c.625C>G (p.Leu209Val)
n.905C>G
c.1-88386C>G (p.=)
5g.36976192C>TCA359486301NIPBLc.1285C>T (p.Leu429Phe)
c.541C>T (p.Leu181Phe)
c.625C>T (p.Leu209Phe)
n.905C>T
c.1-88386C>T (p.=)
5g.36976193T>ACA359486304NIPBLc.1286T>A (p.Leu429His)
c.542T>A (p.Leu181His)
c.626T>A (p.Leu209His)
n.906T>A
c.1-88385T>A (p.=)
5g.36976193T>CCA359486306NIPBLc.1286T>C (p.Leu429Pro)
c.542T>C (p.Leu181Pro)
c.626T>C (p.Leu209Pro)
n.906T>C
c.1-88385T>C (p.=)
5g.36976193T>GCA359486308NIPBLc.1286T>G (p.Leu429Arg)
c.542T>G (p.Leu181Arg)
c.626T>G (p.Leu209Arg)
n.906T>G
c.1-88385T>G (p.=)
5g.36976194T>ACA444095478NIPBLc.1287T>A (p.Leu429=)
c.543T>A (p.Leu181=)
c.627T>A (p.Leu209=)
n.907T>A
c.1-88384T>A (p.=)
5g.36976194T>CCA444095479NIPBLc.1287T>C (p.Leu429=)
c.543T>C (p.Leu181=)
c.627T>C (p.Leu209=)
n.907T>C
c.1-88384T>C (p.=)
5g.36976194T>GCA444095477NIPBLc.1287T>G (p.Leu429=)
c.543T>G (p.Leu181=)
c.627T>G (p.Leu209=)
n.907T>G
c.1-88384T>G (p.=)
5g.36976195C>ACA359486310NIPBLc.1288C>A (p.Pro430Thr)
c.544C>A (p.Pro182Thr)
c.628C>A (p.Pro210Thr)
n.908C>A
c.1-88383C>A (p.=)
5g.36976195C>GCA359486313NIPBLc.1288C>G (p.Pro430Ala)
c.544C>G (p.Pro182Ala)
c.628C>G (p.Pro210Ala)
n.908C>G
c.1-88383C>G (p.=)

Number of alleles fetched