| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.135644942T>A | CA457931748 | NUP205 | c.5607T>A (p.Ala1869=) n.814T>A c.1369T>A c.44T>A n.3885T>A c.4533T>A (p.Ala1511=) | dbSNP |
| 7 | g.135644942T>C | CA4499227 | NUP205 | c.5607T>C (p.Ala1869=) n.814T>C c.1369T>C c.44T>C n.3885T>C c.4533T>C (p.Ala1511=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135644942T>G | CA457931749 | NUP205 | c.5607T>G (p.Ala1869=) n.814T>G c.1369T>G c.44T>G n.3885T>G c.4533T>G (p.Ala1511=) | dbSNP |
| 7 | g.135644942T= | CA2580754216 | NUP205 | c.5607T= (p.Ala1869=) n.814T= c.1369T= c.44T= n.3885T= c.4533T= (p.Ala1511=) | |
| 7 | g.135644943C>A | CA369364518 | NUP205 | c.5608C>A (p.Gln1870Lys) n.815C>A c.1370C>A c.45C>A n.3886C>A c.4534C>A (p.Gln1512Lys) | |
| 7 | g.135644943C>G | CA369364521 | NUP205 | c.5608C>G (p.Gln1870Glu) n.815C>G c.1370C>G c.45C>G n.3886C>G c.4534C>G (p.Gln1512Glu) | |
| 7 | g.135644943C>T | CA369364519 | NUP205 | c.5608C>T (p.Gln1870Ter) n.815C>T c.1370C>T c.45C>T n.3886C>T c.4534C>T (p.Gln1512Ter) | |
| 7 | g.135644944A>C | CA369364522 | NUP205 | c.5609A>C (p.Gln1870Pro) n.816A>C c.1371A>C c.46A>C n.3887A>C c.4535A>C (p.Gln1512Pro) | |
| 7 | g.135644944A>G | CA369364526 | NUP205 | c.5609A>G (p.Gln1870Arg) n.816A>G c.1371A>G c.46A>G n.3887A>G c.4535A>G (p.Gln1512Arg) | |
| 7 | g.135644944A>T | CA369364524 | NUP205 | c.5609A>T (p.Gln1870Leu) n.816A>T c.1371A>T c.46A>T n.3887A>T c.4535A>T (p.Gln1512Leu) | |
| 7 | g.135644945G>A | CA457931750 | NUP205 | c.5610G>A (p.Gln1870=) n.817G>A c.1372G>A c.47G>A n.3888G>A c.4536G>A (p.Gln1512=) | |
| 7 | g.135644945G>C | CA369364528 | NUP205 | c.5610G>C (p.Gln1870His) n.817G>C c.1372G>C c.47G>C n.3888G>C c.4536G>C (p.Gln1512His) | |
| 7 | g.135644945G>T | CA369364529 | NUP205 | c.5610G>T (p.Gln1870His) n.817G>T c.1372G>T c.47G>T n.3888G>T c.4536G>T (p.Gln1512His) | gnomAD v4 |
| 7 | g.135644946A>C | CA369364531 | NUP205 | c.5611A>C (p.Lys1871Gln) n.818A>C c.1373A>C c.48A>C n.3889A>C c.4537A>C (p.Lys1513Gln) | |
| 7 | g.135644946A>G | CA369364533 | NUP205 | c.5611A>G (p.Lys1871Glu) n.818A>G c.1373A>G c.48A>G n.3889A>G c.4537A>G (p.Lys1513Glu) | COSMIC |
| 7 | g.135644946A>T | CA369364535 | NUP205 | c.5611A>T (p.Lys1871Ter) n.818A>T c.1373A>T c.48A>T n.3889A>T c.4537A>T (p.Lys1513Ter) | |
| 7 | g.135644947A>C | CA369364537 | NUP205 | c.5612A>C (p.Lys1871Thr) n.819A>C c.1374A>C c.49A>C n.3890A>C c.4538A>C (p.Lys1513Thr) | |
| 7 | g.135644947A>G | CA369364538 | NUP205 | c.5612A>G (p.Lys1871Arg) n.819A>G c.1374A>G c.49A>G n.3890A>G c.4538A>G (p.Lys1513Arg) | |
| 7 | g.135644947A>T | CA369364540 | NUP205 | c.5612A>T (p.Lys1871Ile) n.819A>T c.1374A>T c.49A>T n.3890A>T c.4538A>T (p.Lys1513Ile) | |
| 7 | g.135644948A>C | CA369364542 | NUP205 | c.5613A>C (p.Lys1871Asn) n.820A>C c.1375A>C c.50A>C n.3891A>C c.4539A>C (p.Lys1513Asn) | |
| 7 | g.135644948A>G | CA457931751 | NUP205 | c.5613A>G (p.Lys1871=) n.820A>G c.1375A>G c.50A>G n.3891A>G c.4539A>G (p.Lys1513=) | gnomAD v4 |
| 7 | g.135644948A>T | CA4499228 | NUP205 | c.5613A>T (p.Lys1871Asn) n.820A>T c.1375A>T c.50A>T n.3891A>T c.4539A>T (p.Lys1513Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.135644949T>A | CA369364545 | NUP205 | c.5614T>A (p.Tyr1872Asn) n.821T>A c.1376T>A c.51T>A n.3892T>A c.4540T>A (p.Tyr1514Asn) | |
| 7 | g.135644949T>C | CA369364546 | NUP205 | c.5614T>C (p.Tyr1872His) n.821T>C c.1376T>C c.51T>C n.3892T>C c.4540T>C (p.Tyr1514His) | |
| 7 | g.135644949T>G | CA369364548 | NUP205 | c.5614T>G (p.Tyr1872Asp) n.821T>G c.1376T>G c.51T>G n.3892T>G c.4540T>G (p.Tyr1514Asp) | |
| 7 | g.135644950A>C | CA369364552 | NUP205 | c.5615A>C (p.Tyr1872Ser) n.822A>C c.1377A>C c.52A>C n.3893A>C c.4541A>C (p.Tyr1514Ser) | |
| 7 | g.135644950A>G | CA4499229 | NUP205 | c.5615A>G (p.Tyr1872Cys) n.822A>G c.1377A>G c.52A>G n.3893A>G c.4541A>G (p.Tyr1514Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135644950A>T | CA369364550 | NUP205 | c.5615A>T (p.Tyr1872Phe) n.822A>T c.1377A>T c.52A>T n.3893A>T c.4541A>T (p.Tyr1514Phe) | |
| 7 | g.135644951T>A | CA369364553 | NUP205 | c.5616T>A (p.Tyr1872Ter) n.823T>A c.1378T>A c.53T>A n.3894T>A c.4542T>A (p.Tyr1514Ter) | |
| 7 | g.135644951T>C | CA457931752 | NUP205 | c.5616T>C (p.Tyr1872=) n.823T>C c.1378T>C c.53T>C n.3894T>C c.4542T>C (p.Tyr1514=) | dbSNP gnomAD v4 |
| 7 | g.135644951T>G | CA369364555 | NUP205 | c.5616T>G (p.Tyr1872Ter) n.823T>G c.1378T>G c.53T>G n.3894T>G c.4542T>G (p.Tyr1514Ter) | |
| 7 | g.135644952G>A | CA369364557 | NUP205 | c.5617G>A (p.Val1873Ile) n.824G>A c.1379G>A c.54G>A n.3895G>A c.4543G>A (p.Val1515Ile) | |
| 7 | g.135644952G>C | CA369364558 | NUP205 | c.5617G>C (p.Val1873Leu) n.824G>C c.1379G>C c.54G>C n.3895G>C c.4543G>C (p.Val1515Leu) | |
| 7 | g.135644952G>T | CA369364560 | NUP205 | c.5617G>T (p.Val1873Phe) n.824G>T c.1379G>T c.54G>T n.3895G>T c.4543G>T (p.Val1515Phe) | |
| 7 | g.135644953T>A | CA369364562 | NUP205 | c.5618T>A (p.Val1873Asp) n.825T>A c.1380T>A c.55T>A n.3896T>A c.4544T>A (p.Val1515Asp) | |
| 7 | g.135644953T>C | CA369364563 | NUP205 | c.5618T>C (p.Val1873Ala) n.825T>C c.1380T>C c.55T>C n.3896T>C c.4544T>C (p.Val1515Ala) | |
| 7 | g.135644953T>G | CA369364565 | NUP205 | c.5618T>G (p.Val1873Gly) n.825T>G c.1380T>G c.55T>G n.3896T>G c.4544T>G (p.Val1515Gly) | |
| 7 | g.135644954T>A | CA457931753 | NUP205 | c.5619T>A (p.Val1873=) n.826T>A c.1381T>A c.56T>A n.3897T>A c.4545T>A (p.Val1515=) | |
| 7 | g.135644954T>C | CA457931754 | NUP205 | c.5619T>C (p.Val1873=) n.826T>C c.1381T>C c.56T>C n.3897T>C c.4545T>C (p.Val1515=) | |
| 7 | g.135644954T>G | CA457931755 | NUP205 | c.5619T>G (p.Val1873=) n.826T>G c.1381T>G c.56T>G n.3897T>G c.4545T>G (p.Val1515=) | gnomAD v4 |
| 7 | g.135644955C>A | CA369364568 | NUP205 | c.5620C>A (p.Leu1874Ile) n.827C>A c.1382C>A c.57C>A n.3898C>A c.4546C>A (p.Leu1516Ile) | |
| 7 | g.135644955C>G | CA4499230 | NUP205 | c.5620C>G (p.Leu1874Val) n.827C>G c.1382C>G c.57C>G n.3898C>G c.4546C>G (p.Leu1516Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.135644955C>T | CA457931756 | NUP205 | c.5620C>T (p.Leu1874=) n.827C>T c.1382C>T c.57C>T n.3898C>T c.4546C>T (p.Leu1516=) | gnomAD v4 |
| 7 | g.135644955dup | CA167066847 | NUP205 | c.5620dup (p.Leu1874ProfsTer15) n.827dup c.1382dup c.57dup n.3898dup c.4546dup (p.Leu1516ProfsTer15) | dbSNP |
| 7 | g.135644956T>A | CA369364573 | NUP205 | c.5621T>A (p.Leu1874Gln) n.828T>A c.1383T>A c.58T>A n.3899T>A c.4547T>A (p.Leu1516Gln) | |
| 7 | g.135644956T>C | CA4499231 | NUP205 | c.5621T>C (p.Leu1874Pro) n.828T>C c.1383T>C c.58T>C n.3899T>C c.4547T>C (p.Leu1516Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.135644956T>G | CA369364571 | NUP205 | c.5621T>G (p.Leu1874Arg) n.828T>G c.1383T>G c.58T>G n.3899T>G c.4547T>G (p.Leu1516Arg) | |
| 7 | g.135644957A>C | CA457931758 | NUP205 | c.5622A>C (p.Leu1874=) n.829A>C c.1384A>C c.59A>C n.3900A>C c.4548A>C (p.Leu1516=) | |
| 7 | g.135644957A>G | CA457931759 | NUP205 | c.5622A>G (p.Leu1874=) n.829A>G c.1384A>G c.59A>G n.3900A>G c.4548A>G (p.Leu1516=) | COSMIC |
| 7 | g.135644957A>T | CA457931757 | NUP205 | c.5622A>T (p.Leu1874=) n.829A>T c.1384A>T c.59A>T n.3900A>T c.4548A>T (p.Leu1516=) | |
| 7 | g.135644958G>A | CA369364577 | NUP205 | c.5623G>A (p.Ala1875Thr) n.830G>A c.1385G>A c.60G>A n.3901G>A c.4549G>A (p.Ala1517Thr) | |
| 7 | g.135644958G>C | CA369364578 | NUP205 | c.5623G>C (p.Ala1875Pro) n.830G>C c.1385G>C c.60G>C n.3901G>C c.4549G>C (p.Ala1517Pro) | |
| 7 | g.135644958G>T | CA369364579 | NUP205 | c.5623G>T (p.Ala1875Ser) n.830G>T c.1385G>T c.60G>T n.3901G>T c.4549G>T (p.Ala1517Ser) | |
| 7 | g.135644959C>A | CA369364581 | NUP205 | c.5624C>A (p.Ala1875Glu) n.831C>A c.1386C>A c.61C>A n.3902C>A c.4550C>A (p.Ala1517Glu) | |
| 7 | g.135644959C>G | CA369364583 | NUP205 | c.5624C>G (p.Ala1875Gly) n.831C>G c.1386C>G c.61C>G n.3902C>G c.4550C>G (p.Ala1517Gly) | |
| 7 | g.135644959C>T | CA369364584 | NUP205 | c.5624C>T (p.Ala1875Val) n.831C>T c.1386C>T c.61C>T n.3902C>T c.4550C>T (p.Ala1517Val) | |
| 7 | g.135644960A>C | CA457931760 | NUP205 | c.5625A>C (p.Ala1875=) n.832A>C c.1387A>C c.62A>C n.3903A>C c.4551A>C (p.Ala1517=) | |
| 7 | g.135644960A>G | CA457931761 | NUP205 | c.5625A>G (p.Ala1875=) n.832A>G c.1387A>G c.62A>G n.3903A>G c.4551A>G (p.Ala1517=) | |
| 7 | g.135644960A>T | CA457931762 | NUP205 | c.5625A>T (p.Ala1875=) n.832A>T c.1387A>T c.62A>T n.3903A>T c.4551A>T (p.Ala1517=) | |
| 7 | g.135644961A>C | CA457931763 | NUP205 | c.5626A>C (p.Arg1876=) n.833A>C c.1388A>C c.63A>C n.3904A>C c.4552A>C (p.Arg1518=) | |
| 7 | g.135644961A>G | CA369364586 | NUP205 | c.5626A>G (p.Arg1876Gly) n.833A>G c.1388A>G c.63A>G n.3904A>G c.4552A>G (p.Arg1518Gly) | |
| 7 | g.135644961A>T | CA369364588 | NUP205 | c.5626A>T (p.Arg1876Ter) n.833A>T c.1388A>T c.63A>T n.3904A>T c.4552A>T (p.Arg1518Ter) | |
| 7 | g.135644962G>A | CA369364590 | NUP205 | c.5627G>A (p.Arg1876Lys) n.834G>A c.1389G>A c.64G>A n.3905G>A c.4553G>A (p.Arg1518Lys) | |
| 7 | g.135644962G>C | CA4499232 | NUP205 | c.5627G>C (p.Arg1876Thr) n.834G>C c.1389G>C c.64G>C n.3905G>C c.4553G>C (p.Arg1518Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.135644962G>T | CA369364593 | NUP205 | c.5627G>T (p.Arg1876Ile) n.834G>T c.1389G>T c.64G>T n.3905G>T c.4553G>T (p.Arg1518Ile) | |
| 7 | g.135644963A>C | CA369364594 | NUP205 | c.5628A>C (p.Arg1876Ser) n.835A>C c.1390A>C c.65A>C n.3906A>C c.4554A>C (p.Arg1518Ser) | |
| 7 | g.135644963A>G | CA457931764 | NUP205 | c.5628A>G (p.Arg1876=) n.835A>G c.1390A>G c.65A>G n.3906A>G c.4554A>G (p.Arg1518=) | |
| 7 | g.135644963A>T | CA369364595 | NUP205 | c.5628A>T (p.Arg1876Ser) n.835A>T c.1390A>T c.65A>T n.3906A>T c.4554A>T (p.Arg1518Ser) | |
| 7 | g.135644964C>A | CA457931765 | NUP205 | c.5629C>A (p.Arg1877=) n.836C>A c.1391C>A c.66C>A n.3907C>A c.4555C>A (p.Arg1519=) | |
| 7 | g.135644964C>G | CA369364597 | NUP205 | c.5629C>G (p.Arg1877Gly) n.836C>G c.1391C>G c.66C>G n.3907C>G c.4555C>G (p.Arg1519Gly) | |
| 7 | g.135644964C>T | CA4499233 | NUP205 | c.5629C>T (p.Arg1877Trp) n.836C>T c.1391C>T c.66C>T n.3907C>T c.4555C>T (p.Arg1519Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135644965G>A | CA167066853 | NUP205 | c.5630G>A (p.Arg1877Gln) n.837G>A c.1392G>A c.67G>A n.3908G>A c.4556G>A (p.Arg1519Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135644965G>C | CA369364601 | NUP205 | c.5630G>C (p.Arg1877Pro) n.837G>C c.1392G>C c.67G>C n.3908G>C c.4556G>C (p.Arg1519Pro) | gnomAD v4 |
| 7 | g.135644965G>T | CA369364602 | NUP205 | c.5630G>T (p.Arg1877Leu) n.837G>T c.1392G>T c.67G>T n.3908G>T c.4556G>T (p.Arg1519Leu) | |
| 7 | g.135644966G>A | CA457931766 | NUP205 | c.5631G>A (p.Arg1877=) n.838G>A c.1393G>A c.68G>A n.3909G>A c.4557G>A (p.Arg1519=) | gnomAD v4 |
| 7 | g.135644966G>C | CA457931767 | NUP205 | c.5631G>C (p.Arg1877=) n.838G>C c.1393G>C c.68G>C n.3909G>C c.4557G>C (p.Arg1519=) | gnomAD v4 |
| 7 | g.135644966G>T | CA457931768 | NUP205 | c.5631G>T (p.Arg1877=) n.838G>T c.1393G>T c.68G>T n.3909G>T c.4557G>T (p.Arg1519=) | |
| 7 | g.135644967C>A | CA369364605 | NUP205 | c.5632C>A (p.Arg1878Ser) n.839C>A c.1394C>A c.69C>A n.3910C>A c.4558C>A (p.Arg1520Ser) | gnomAD v4 |
| 7 | g.135644967C>G | CA369364606 | NUP205 | c.5632C>G (p.Arg1878Gly) n.839C>G c.1394C>G c.69C>G n.3910C>G c.4558C>G (p.Arg1520Gly) | |
| 7 | g.135644967C>T | CA4499234 | NUP205 | c.5632C>T (p.Arg1878Cys) n.839C>T c.1394C>T c.69C>T n.3910C>T c.4558C>T (p.Arg1520Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.135644968G>A | CA369364608 | NUP205 | c.5633G>A (p.Arg1878His) n.840G>A c.1395G>A c.70G>A n.3911G>A c.4559G>A (p.Arg1520His) | dbSNP gnomAD v4 |
| 7 | g.135644968G>C | CA369364609 | NUP205 | c.5633G>C (p.Arg1878Pro) n.840G>C c.1395G>C c.70G>C n.3911G>C c.4559G>C (p.Arg1520Pro) | |
| 7 | g.135644968G>T | CA369364611 | NUP205 | c.5633G>T (p.Arg1878Leu) n.840G>T c.1395G>T c.70G>T n.3911G>T c.4559G>T (p.Arg1520Leu) | |
| 7 | g.135644969C>A | CA457931769 | NUP205 | c.5634C>A (p.Arg1878=) n.841C>A c.1396C>A c.71C>A n.3912C>A c.4560C>A (p.Arg1520=) | |
| 7 | g.135644969C>G | CA457931770 | NUP205 | c.5634C>G (p.Arg1878=) n.841C>G c.1396C>G c.71C>G n.3912C>G c.4560C>G (p.Arg1520=) | |
| 7 | g.135644969C>T | CA4499235 | NUP205 | c.5634C>T (p.Arg1878=) n.841C>T c.1396C>T c.71C>T n.3912C>T c.4560C>T (p.Arg1520=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135644970T>A | CA369364614 | NUP205 | c.5635T>A (p.Leu1879Met) n.842T>A c.1397T>A c.72T>A n.3913T>A c.4561T>A (p.Leu1521Met) | |
| 7 | g.135644970T>C | CA457931771 | NUP205 | c.5635T>C (p.Leu1879=) n.842T>C c.1397T>C c.72T>C n.3913T>C c.4561T>C (p.Leu1521=) | |
| 7 | g.135644970T>G | CA369364616 | NUP205 | c.5635T>G (p.Leu1879Val) n.842T>G c.1397T>G c.72T>G n.3913T>G c.4561T>G (p.Leu1521Val) | |
| 7 | g.135644971T>A | CA369364622 | NUP205 | c.5636T>A (p.Leu1879Ter) n.843T>A c.1398T>A c.73T>A n.3914T>A c.4562T>A (p.Leu1521Ter) | |
| 7 | g.135644971T>C | CA369364620 | NUP205 | c.5636T>C (p.Leu1879Ser) n.843T>C c.1398T>C c.73T>C n.3914T>C c.4562T>C (p.Leu1521Ser) | |
| 7 | g.135644971T>G | CA369364618 | NUP205 | c.5636T>G (p.Leu1879Trp) n.843T>G c.1398T>G c.73T>G n.3914T>G c.4562T>G (p.Leu1521Trp) | |
| 7 | g.135644972G>A | CA457931772 | NUP205 | c.5637G>A (p.Leu1879=) n.844G>A c.1399G>A c.74G>A n.3915G>A c.4563G>A (p.Leu1521=) | gnomAD v4 |
| 7 | g.135644972G>C | CA369364623 | NUP205 | c.5637G>C (p.Leu1879Phe) n.844G>C c.1399G>C c.74G>C n.3915G>C c.4563G>C (p.Leu1521Phe) | |
| 7 | g.135644972G>T | CA369364625 | NUP205 | c.5637G>T (p.Leu1879Phe) n.844G>T c.1399G>T c.74G>T n.3915G>T c.4563G>T (p.Leu1521Phe) | |
| 7 | g.135644973G>A | CA369364626 | NUP205 | c.5638G>A (p.Val1880Met) n.845G>A c.1400G>A c.75G>A n.3916G>A c.4564G>A (p.Val1522Met) | |
| 7 | g.135644973G>C | CA369364627 | NUP205 | c.5638G>C (p.Val1880Leu) n.845G>C c.1400G>C c.75G>C n.3916G>C c.4564G>C (p.Val1522Leu) | |
| 7 | g.135644973G>T | CA369364628 | NUP205 | c.5638G>T (p.Val1880Leu) n.845G>T c.1400G>T c.75G>T n.3916G>T c.4564G>T (p.Val1522Leu) | |
| 7 | g.135644974T>A | CA369364629 | NUP205 | c.5639T>A (p.Val1880Glu) n.846T>A c.1401T>A c.76T>A n.3917T>A c.4565T>A (p.Val1522Glu) | |
| 7 | g.135644974T>C | CA369364630 | NUP205 | c.5639T>C (p.Val1880Ala) n.846T>C c.1401T>C c.76T>C n.3917T>C c.4565T>C (p.Val1522Ala) | |
| 7 | g.135644974T>G | CA369364631 | NUP205 | c.5639T>G (p.Val1880Gly) n.846T>G c.1401T>G c.76T>G n.3917T>G c.4565T>G (p.Val1522Gly) | |
| 7 | g.135644975G>A | CA457931773 | NUP205 | c.5640G>A (p.Val1880=) n.847G>A c.1402G>A c.77G>A n.3918G>A c.4566G>A (p.Val1522=) | |
| 7 | g.135644975G>C | CA457931774 | NUP205 | c.5640G>C (p.Val1880=) n.847G>C c.1402G>C c.77G>C n.3918G>C c.4566G>C (p.Val1522=) | |
| 7 | g.135644975G>T | CA457931775 | NUP205 | c.5640G>T (p.Val1880=) n.847G>T c.1402G>T c.77G>T n.3918G>T c.4566G>T (p.Val1522=) | |
| 7 | g.135644976A>C | CA369364634 | NUP205 | c.5641A>C (p.Lys1881Gln) n.848A>C c.1403A>C c.78A>C n.3919A>C c.4567A>C (p.Lys1523Gln) | |
| 7 | g.135644976A>G | CA369364632 | NUP205 | c.5641A>G (p.Lys1881Glu) n.848A>G c.1403A>G c.78A>G n.3919A>G c.4567A>G (p.Lys1523Glu) | gnomAD v4 |
| 7 | g.135644976A>T | CA369364633 | NUP205 | c.5641A>T (p.Lys1881Ter) n.848A>T c.1403A>T c.78A>T n.3919A>T c.4567A>T (p.Lys1523Ter) | |
| 7 | g.135644977A>C | CA369364635 | NUP205 | c.5642A>C (p.Lys1881Thr) n.849A>C c.1404A>C c.79A>C n.3920A>C c.4568A>C (p.Lys1523Thr) | |
| 7 | g.135644977A>G | CA369364636 | NUP205 | c.5642A>G (p.Lys1881Arg) n.849A>G c.1404A>G c.79A>G n.3920A>G c.4568A>G (p.Lys1523Arg) | |
| 7 | g.135644977A>T | CA369364637 | NUP205 | c.5642A>T (p.Lys1881Met) n.849A>T c.1404A>T c.79A>T n.3920A>T c.4568A>T (p.Lys1523Met) | |
| 7 | g.135644978G>A | CA457931776 | NUP205 | c.5643G>A (p.Lys1881=) n.850G>A c.1405G>A c.80G>A n.3921G>A c.4569G>A (p.Lys1523=) | |
| 7 | g.135644978G>C | CA4499236 | NUP205 | c.5643G>C (p.Lys1881Asn) n.850G>C c.1405G>C c.80G>C n.3921G>C c.4569G>C (p.Lys1523Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.135644978G>T | CA369364638 | NUP205 | c.5643G>T (p.Lys1881Asn) n.850G>T c.1405G>T c.80G>T n.3921G>T c.4569G>T (p.Lys1523Asn) | gnomAD v4 |
| 7 | g.135644979G>A | CA369364639 | NUP205 | c.5644G>A (p.Val1882Met) n.851G>A c.1405+1G>A c.81G>A n.3922G>A c.4570G>A (p.Val1524Met) | |
| 7 | g.135644979G>C | CA369364641 | NUP205 | c.5644G>C (p.Val1882Leu) n.851G>C c.1405+1G>C c.81G>C n.3922G>C c.4570G>C (p.Val1524Leu) | |
| 7 | g.135644979G>T | CA369364640 | NUP205 | c.5644G>T (p.Val1882Leu) n.851G>T c.1405+1G>T c.81G>T n.3922G>T c.4570G>T (p.Val1524Leu) | COSMIC |
| 7 | g.135644980T>A | CA369364642 | NUP205 | c.5645T>A (p.Val1882Glu) n.852T>A c.1405+2T>A c.82T>A n.3923T>A c.4571T>A (p.Val1524Glu) | |
| 7 | g.135644980T>C | CA369364643 | NUP205 | c.5645T>C (p.Val1882Ala) n.852T>C c.1405+2T>C c.82T>C n.3923T>C c.4571T>C (p.Val1524Ala) | |
| 7 | g.135644980T>G | CA369364644 | NUP205 | c.5645T>G (p.Val1882Gly) n.852T>G c.1405+2T>G c.82T>G n.3923T>G c.4571T>G (p.Val1524Gly) | |
| 7 | g.135644981G>A | CA457931777 | NUP205 | c.5646G>A (p.Val1882=) n.853G>A c.1405+3G>A c.83G>A n.3924G>A c.4572G>A (p.Val1524=) | |
| 7 | g.135644981G>C | CA457931778 | NUP205 | c.5646G>C (p.Val1882=) n.853G>C c.1405+3G>C c.83G>C n.3924G>C c.4572G>C (p.Val1524=) | |
| 7 | g.135644981G>T | CA457931779 | NUP205 | c.5646G>T (p.Val1882=) n.853G>T c.1405+3G>T c.83G>T n.3924G>T c.4572G>T (p.Val1524=) | |
| 7 | g.135644982A>C | CA369364645 | NUP205 | c.5647A>C (p.Ile1883Leu) n.854A>C c.1405+4A>C c.84A>C n.3925A>C c.4573A>C (p.Ile1525Leu) | |
| 7 | g.135644982A>G | CA369364646 | NUP205 | c.5647A>G (p.Ile1883Val) n.854A>G c.1405+4A>G c.84A>G n.3925A>G c.4573A>G (p.Ile1525Val) | gnomAD v4 |
| 7 | g.135644982A>T | CA4499237 | NUP205 | c.5647A>T (p.Ile1883Phe) n.854A>T c.1405+4A>T c.84A>T n.3925A>T c.4573A>T (p.Ile1525Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135644983T>A | CA369364647 | NUP205 | c.5648T>A (p.Ile1883Asn) n.855T>A c.1405+5T>A c.85T>A n.3926T>A c.4574T>A (p.Ile1525Asn) | |
| 7 | g.135644983T>C | CA369364648 | NUP205 | c.5648T>C (p.Ile1883Thr) n.855T>C c.1405+5T>C c.85T>C n.3926T>C c.4574T>C (p.Ile1525Thr) | gnomAD v4 |
| 7 | g.135644983T>G | CA369364649 | NUP205 | c.5648T>G (p.Ile1883Ser) n.855T>G c.1405+5T>G c.85T>G n.3926T>G c.4574T>G (p.Ile1525Ser) | |
| 7 | g.135644984C>A | CA457931780 | NUP205 | c.5649C>A (p.Ile1883=) n.856C>A c.1405+6C>A c.86C>A n.3927C>A c.4575C>A (p.Ile1525=) | |
| 7 | g.135644984C>G | CA369364650 | NUP205 | c.5649C>G (p.Ile1883Met) n.856C>G c.1405+6C>G c.86C>G n.3927C>G c.4575C>G (p.Ile1525Met) | |
| 7 | g.135644984C>T | CA457931781 | NUP205 | c.5649C>T (p.Ile1883=) n.856C>T c.1405+6C>T c.86C>T n.3927C>T c.4575C>T (p.Ile1525=) | |
| 7 | g.135644985A>C | CA369364653 | NUP205 | c.5650A>C (p.Asn1884His) n.857A>C c.1405+7A>C c.87A>C n.3928A>C c.4576A>C (p.Asn1526His) | gnomAD v4 |
| 7 | g.135644985A>G | CA369364652 | NUP205 | c.5650A>G (p.Asn1884Asp) n.857A>G c.1405+7A>G c.87A>G n.3928A>G c.4576A>G (p.Asn1526Asp) | |
| 7 | g.135644985A>T | CA369364651 | NUP205 | c.5650A>T (p.Asn1884Tyr) n.857A>T c.1405+7A>T c.87A>T n.3928A>T c.4576A>T (p.Asn1526Tyr) | |
| 7 | g.135644986A>C | CA369364654 | NUP205 | c.5651A>C (p.Asn1884Thr) n.858A>C c.1405+8A>C c.88A>C n.3929A>C c.4577A>C (p.Asn1526Thr) | |
| 7 | g.135644986A>G | CA369364655 | NUP205 | c.5651A>G (p.Asn1884Ser) n.858A>G c.1405+8A>G c.88A>G n.3929A>G c.4577A>G (p.Asn1526Ser) | |
| 7 | g.135644986A>T | CA369364656 | NUP205 | c.5651A>T (p.Asn1884Ile) n.858A>T c.1405+8A>T c.88A>T n.3929A>T c.4577A>T (p.Asn1526Ile) | |
| 7 | g.135644987C>A | CA369364657 | NUP205 | c.5652C>A (p.Asn1884Lys) n.859C>A c.1405+9C>A c.89C>A n.3930C>A c.4578C>A (p.Asn1526Lys) | gnomAD v4 |
| 7 | g.135644987C>G | CA369364658 | NUP205 | c.5652C>G (p.Asn1884Lys) n.859C>G c.1405+9C>G c.89C>G n.3930C>G c.4578C>G (p.Asn1526Lys) | |
| 7 | g.135644987C>T | CA457931782 | NUP205 | c.5652C>T (p.Asn1884=) n.859C>T c.1405+9C>T c.89C>T n.3930C>T c.4578C>T (p.Asn1526=) | |
| 7 | g.135644988A>C | CA369364659 | NUP205 | c.5653A>C (p.Asn1885His) n.860A>C c.1405+10A>C c.90A>C n.3931A>C c.4579A>C (p.Asn1527His) | |
| 7 | g.135644988A>G | CA369364660 | NUP205 | c.5653A>G (p.Asn1885Asp) n.860A>G c.1405+10A>G c.90A>G n.3931A>G c.4579A>G (p.Asn1527Asp) | |
| 7 | g.135644988A>T | CA369364661 | NUP205 | c.5653A>T (p.Asn1885Tyr) n.860A>T c.1405+10A>T c.90A>T n.3931A>T c.4579A>T (p.Asn1527Tyr) | |
| 7 | g.135644989A>C | CA369364662 | NUP205 | c.5654A>C (p.Asn1885Thr) n.861A>C c.1405+11A>C c.91A>C n.3932A>C c.4580A>C (p.Asn1527Thr) | |
| 7 | g.135644989A>G | CA4499238 | NUP205 | c.5654A>G (p.Asn1885Ser) n.861A>G c.1405+11A>G c.91A>G n.3932A>G c.4580A>G (p.Asn1527Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135644989A>T | CA369364663 | NUP205 | c.5654A>T (p.Asn1885Ile) n.861A>T c.1405+11A>T c.91A>T n.3932A>T c.4580A>T (p.Asn1527Ile) | |
| 7 | g.135644990T>A | CA369364664 | NUP205 | c.5655T>A (p.Asn1885Lys) n.862T>A c.1405+12T>A c.92T>A n.3933T>A c.4581T>A (p.Asn1527Lys) | |
| 7 | g.135644990T>C | CA457931783 | NUP205 | c.5655T>C (p.Asn1885=) n.862T>C c.1405+12T>C c.92T>C n.3933T>C c.4581T>C (p.Asn1527=) | |
| 7 | g.135644990T>G | CA369364665 | NUP205 | c.5655T>G (p.Asn1885Lys) n.862T>G c.1405+12T>G c.92T>G n.3933T>G c.4581T>G (p.Asn1527Lys) | |
| 7 | g.135644991C>A | CA457931784 | NUP205 | c.5656C>A (p.Arg1886=) n.863C>A c.1405+13C>A c.93C>A n.3934C>A c.4582C>A (p.Arg1528=) | gnomAD v4 |
| 7 | g.135644991C>G | CA167066859 | NUP205 | c.5656C>G (p.Arg1886Gly) n.863C>G c.1405+13C>G c.93C>G n.3934C>G c.4582C>G (p.Arg1528Gly) | dbSNP gnomAD v4 |
| 7 | g.135644991C>T | CA369364666 | NUP205 | c.5656C>T (p.Arg1886Ter) n.863C>T c.1405+13C>T c.93C>T n.3934C>T c.4582C>T (p.Arg1528Ter) | gnomAD v4 |
| 7 | g.135644992G>A | CA167066861 | NUP205 | c.5657G>A (p.Arg1886Gln) n.864G>A c.1405+14G>A c.94G>A n.3935G>A c.4583G>A (p.Arg1528Gln) | dbSNP gnomAD v4 |
| 7 | g.135644992G>C | CA369364667 | NUP205 | c.5657G>C (p.Arg1886Pro) n.864G>C c.1405+14G>C c.94G>C n.3935G>C c.4583G>C (p.Arg1528Pro) | |
| 7 | g.135644992G>T | CA369364668 | NUP205 | c.5657G>T (p.Arg1886Leu) n.864G>T c.1405+14G>T c.94G>T n.3935G>T c.4583G>T (p.Arg1528Leu) | gnomAD v4 |
| 7 | g.135644993A>C | CA457931787 | NUP205 | c.5658A>C (p.Arg1886=) n.865A>C c.1405+15A>C c.95A>C n.3936A>C c.4584A>C (p.Arg1528=) | |
| 7 | g.135644993A>G | CA457931785 | NUP205 | c.5658A>G (p.Arg1886=) n.865A>G c.1405+15A>G c.95A>G n.3936A>G c.4584A>G (p.Arg1528=) | |
| 7 | g.135644993A>T | CA457931786 | NUP205 | c.5658A>T (p.Arg1886=) n.865A>T c.1405+15A>T c.95A>T n.3936A>T c.4584A>T (p.Arg1528=) | |
| 7 | g.135644994G>A | CA369364669 | NUP205 | c.5659G>A (p.Ala1887Thr) n.866G>A c.1405+16G>A c.96G>A n.3937G>A c.4585G>A (p.Ala1529Thr) | |
| 7 | g.135644994G>C | CA369364670 | NUP205 | c.5659G>C (p.Ala1887Pro) n.866G>C c.1405+16G>C c.96G>C n.3937G>C c.4585G>C (p.Ala1529Pro) | gnomAD v4 |
| 7 | g.135644994G>T | CA369364671 | NUP205 | c.5659G>T (p.Ala1887Ser) n.866G>T c.1405+16G>T c.96G>T n.3937G>T c.4585G>T (p.Ala1529Ser) | |
| 7 | g.135644995C>A | CA369364672 | NUP205 | c.5660C>A (p.Ala1887Asp) n.867C>A c.1405+17C>A c.97C>A n.3938C>A c.4586C>A (p.Ala1529Asp) | |
| 7 | g.135644995C>G | CA369364673 | NUP205 | c.5660C>G (p.Ala1887Gly) n.867C>G c.1405+17C>G c.97C>G n.3938C>G c.4586C>G (p.Ala1529Gly) | |
| 7 | g.135644995C>T | CA369364674 | NUP205 | c.5660C>T (p.Ala1887Val) n.867C>T c.1405+17C>T c.97C>T n.3938C>T c.4586C>T (p.Ala1529Val) | |
| 7 | g.135644996T>A | CA457931788 | NUP205 | c.5661T>A (p.Ala1887=) n.868T>A c.1405+18T>A c.98T>A n.3939T>A c.4587T>A (p.Ala1529=) | |
| 7 | g.135644996T>C | CA457931789 | NUP205 | c.5661T>C (p.Ala1887=) n.868T>C c.1405+18T>C c.98T>C n.3939T>C c.4587T>C (p.Ala1529=) | |
| 7 | g.135644996T>G | CA457931790 | NUP205 | c.5661T>G (p.Ala1887=) n.868T>G c.1405+18T>G c.98T>G n.3939T>G c.4587T>G (p.Ala1529=) | |
| 7 | g.135644997A>C | CA369364675 | NUP205 | c.5662A>C (p.Lys1888Gln) n.869A>C c.1405+19A>C c.99A>C n.3940A>C c.4588A>C (p.Lys1530Gln) | |
| 7 | g.135644997A>G | CA369364676 | NUP205 | c.5662A>G (p.Lys1888Glu) n.869A>G c.1405+19A>G c.99A>G n.3940A>G c.4588A>G (p.Lys1530Glu) | |
| 7 | g.135644997A>T | CA369364677 | NUP205 | c.5662A>T (p.Lys1888Ter) n.869A>T c.1405+19A>T c.99A>T n.3940A>T c.4588A>T (p.Lys1530Ter) | |
| 7 | g.135644998A>C | CA369364680 | NUP205 | c.5663A>C (p.Lys1888Thr) n.870A>C c.1405+20A>C c.100A>C n.3941A>C c.4589A>C (p.Lys1530Thr) | |
| 7 | g.135644998A>G | CA369364679 | NUP205 | c.5663A>G (p.Lys1888Arg) n.870A>G c.1405+20A>G c.100A>G n.3941A>G c.4589A>G (p.Lys1530Arg) | |
| 7 | g.135644998A>T | CA369364678 | NUP205 | c.5663A>T (p.Lys1888Ile) n.870A>T c.1405+20A>T c.100A>T n.3941A>T c.4589A>T (p.Lys1530Ile) | |
| 7 | g.135644999A>C | CA369364681 | NUP205 | c.5664A>C (p.Lys1888Asn) n.871A>C c.1405+21A>C c.101A>C n.3942A>C c.4590A>C (p.Lys1530Asn) | |
| 7 | g.135644999A>G | CA457931791 | NUP205 | c.5664A>G (p.Lys1888=) n.871A>G c.1405+21A>G c.101A>G n.3942A>G c.4590A>G (p.Lys1530=) | |
| 7 | g.135644999A>T | CA369364682 | NUP205 | c.5664A>T (p.Lys1888Asn) n.871A>T c.1405+21A>T c.101A>T n.3942A>T c.4590A>T (p.Lys1530Asn) | |
| 7 | g.135645000C>A | CA369364683 | NUP205 | c.5665C>A (p.Leu1889Met) n.872C>A c.1405+22C>A c.102C>A n.3943C>A c.4591C>A (p.Leu1531Met) | |
| 7 | g.135645000C>G | CA369364684 | NUP205 | c.5665C>G (p.Leu1889Val) n.872C>G c.1405+22C>G c.102C>G n.3943C>G c.4591C>G (p.Leu1531Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.135645000C>T | CA457931792 | NUP205 | c.5665C>T (p.Leu1889=) n.872C>T c.1405+22C>T c.102C>T n.3943C>T c.4591C>T (p.Leu1531=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.135645001T>A | CA369364685 | NUP205 | c.5666T>A (p.Leu1889Gln) n.873T>A c.1405+23T>A c.103T>A n.3944T>A c.4592T>A (p.Leu1531Gln) | |
| 7 | g.135645001T>C | CA369364686 | NUP205 | c.5666T>C (p.Leu1889Pro) n.873T>C c.1405+23T>C c.103T>C n.3944T>C c.4592T>C (p.Leu1531Pro) | |
| 7 | g.135645001T>G | CA369364687 | NUP205 | c.5666T>G (p.Leu1889Arg) n.873T>G c.1405+23T>G c.103T>G n.3944T>G c.4592T>G (p.Leu1531Arg) | |
| 7 | g.135645002G>A | CA4499239 | NUP205 | c.5667G>A (p.Leu1889=) n.874G>A c.1405+24G>A c.104G>A n.3945G>A c.4593G>A (p.Leu1531=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135645002G>C | CA457931793 | NUP205 | c.5667G>C (p.Leu1889=) n.874G>C c.1405+24G>C c.104G>C n.3945G>C c.4593G>C (p.Leu1531=) | |
| 7 | g.135645002G>T | CA457931794 | NUP205 | c.5667G>T (p.Leu1889=) n.874G>T c.1405+24G>T c.104G>T n.3945G>T c.4593G>T (p.Leu1531=) | |
| 7 | g.135645003C>A | CA369364688 | NUP205 | c.5668C>A (p.Leu1890Ile) n.875C>A c.1405+25C>A c.105C>A n.3946C>A c.4594C>A (p.Leu1532Ile) | |
| 7 | g.135645003C>G | CA369364689 | NUP205 | c.5668C>G (p.Leu1890Val) n.875C>G c.1405+25C>G c.105C>G n.3946C>G c.4594C>G (p.Leu1532Val) | |
| 7 | g.135645003C>T | CA369364690 | NUP205 | c.5668C>T (p.Leu1890Phe) n.875C>T c.1405+25C>T c.105C>T n.3946C>T c.4594C>T (p.Leu1532Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.135645004T>A | CA369364691 | NUP205 | c.5669T>A (p.Leu1890His) n.876T>A c.1405+26T>A c.106T>A n.3947T>A c.4595T>A (p.Leu1532His) | |
| 7 | g.135645004T>C | CA369364692 | NUP205 | c.5669T>C (p.Leu1890Pro) n.876T>C c.1405+26T>C c.106T>C n.3947T>C c.4595T>C (p.Leu1532Pro) | |
| 7 | g.135645004T>G | CA369364693 | NUP205 | c.5669T>G (p.Leu1890Arg) n.876T>G c.1405+26T>G c.106T>G n.3947T>G c.4595T>G (p.Leu1532Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135645005T>A | CA457931795 | NUP205 | c.5670T>A (p.Leu1890=) n.877T>A c.1405+27T>A c.107T>A n.3948T>A c.4596T>A (p.Leu1532=) | |
| 7 | g.135645005T>C | CA457931796 | NUP205 | c.5670T>C (p.Leu1890=) n.877T>C c.1405+27T>C c.107T>C n.3948T>C c.4596T>C (p.Leu1532=) | |
| 7 | g.135645005T>G | CA457931797 | NUP205 | c.5670T>G (p.Leu1890=) n.877T>G c.1405+27T>G c.107T>G n.3948T>G c.4596T>G (p.Leu1532=) | |
| 7 | g.135645006T>A | CA369364694 | NUP205 | c.5671T>A (p.Ser1891Thr) n.878T>A c.1405+28T>A c.108T>A n.3949T>A c.4597T>A (p.Ser1533Thr) | |
| 7 | g.135645006T>C | CA369364695 | NUP205 | c.5671T>C (p.Ser1891Pro) n.878T>C c.1405+28T>C c.108T>C n.3949T>C c.4597T>C (p.Ser1533Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.135645006T>G | CA369364696 | NUP205 | c.5671T>G (p.Ser1891Ala) n.878T>G c.1405+28T>G c.108T>G n.3949T>G c.4597T>G (p.Ser1533Ala) | |
| 7 | g.135645007C>A | CA369364699 | NUP205 | c.5672C>A (p.Ser1891Tyr) n.879C>A c.1405+29C>A c.109C>A n.3950C>A c.4598C>A (p.Ser1533Tyr) | gnomAD v4 |
| 7 | g.135645007C>G | CA369364697 | NUP205 | c.5672C>G (p.Ser1891Cys) n.879C>G c.1405+29C>G c.109C>G n.3950C>G c.4598C>G (p.Ser1533Cys) | |
| 7 | g.135645007C>T | CA369364698 | NUP205 | c.5672C>T (p.Ser1891Phe) n.879C>T c.1405+29C>T c.109C>T n.3950C>T c.4598C>T (p.Ser1533Phe) | dbSNP gnomAD v4 |
| 7 | g.135645008C>A | CA457931798 | NUP205 | c.5673C>A (p.Ser1891=) n.880C>A c.1405+30C>A c.110C>A n.3951C>A c.4599C>A (p.Ser1533=) | |
| 7 | g.135645008C>G | CA457931799 | NUP205 | c.5673C>G (p.Ser1891=) n.880C>G c.1405+30C>G c.110C>G n.3951C>G c.4599C>G (p.Ser1533=) | dbSNP |
| 7 | g.135645008C>T | CA457931800 | NUP205 | c.5673C>T (p.Ser1891=) n.880C>T c.1405+30C>T c.110C>T n.3951C>T c.4599C>T (p.Ser1533=) | |
| 7 | g.135645009C>A | CA369364700 | NUP205 | c.5674C>A (p.Leu1892Ile) n.881C>A c.1405+31C>A c.111C>A n.3952C>A c.4600C>A (p.Leu1534Ile) | |
| 7 | g.135645009C>G | CA369364701 | NUP205 | c.5674C>G (p.Leu1892Val) n.881C>G c.1405+31C>G c.111C>G n.3952C>G c.4600C>G (p.Leu1534Val) | gnomAD v4 |
| 7 | g.135645009C>T | CA4499240 | NUP205 | c.5674C>T (p.Leu1892Phe) n.881C>T c.1405+31C>T c.111C>T n.3952C>T c.4600C>T (p.Leu1534Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135645010T>A | CA369364702 | NUP205 | c.5675T>A (p.Leu1892His) n.882T>A c.1405+32T>A c.112T>A n.3953T>A c.4601T>A (p.Leu1534His) | |
| 7 | g.135645010T>C | CA369364703 | NUP205 | c.5675T>C (p.Leu1892Pro) n.882T>C c.1405+32T>C c.112T>C n.3953T>C c.4601T>C (p.Leu1534Pro) | gnomAD v4 |
| 7 | g.135645010T>G | CA369364704 | NUP205 | c.5675T>G (p.Leu1892Arg) n.882T>G c.1405+32T>G c.112T>G n.3953T>G c.4601T>G (p.Leu1534Arg) | |
| 7 | g.135645011T>A | CA457931801 | NUP205 | c.5676T>A (p.Leu1892=) n.883T>A c.1405+33T>A c.113T>A n.3954T>A c.4602T>A (p.Leu1534=) | |
| 7 | g.135645011T>C | CA457931802 | NUP205 | c.5676T>C (p.Leu1892=) n.883T>C c.1405+33T>C c.113T>C n.3954T>C c.4602T>C (p.Leu1534=) | |
| 7 | g.135645011T>G | CA457931803 | NUP205 | c.5676T>G (p.Leu1892=) n.883T>G c.1405+33T>G c.113T>G n.3954T>G c.4602T>G (p.Leu1534=) | |
| 7 | g.135645012T>A | CA369364705 | NUP205 | c.5677T>A (p.Cys1893Ser) n.884T>A c.1405+34T>A c.114T>A n.3955T>A c.4603T>A (p.Cys1535Ser) | |
| 7 | g.135645012T>C | CA369364706 | NUP205 | c.5677T>C (p.Cys1893Arg) n.884T>C c.1405+34T>C c.114T>C n.3955T>C c.4603T>C (p.Cys1535Arg) | |
| 7 | g.135645012T>G | CA369364707 | NUP205 | c.5677T>G (p.Cys1893Gly) n.884T>G c.1405+34T>G c.114T>G n.3955T>G c.4603T>G (p.Cys1535Gly) | |
| 7 | g.135645013G>A | CA369364708 | NUP205 | c.5678G>A (p.Cys1893Tyr) n.885G>A c.1405+35G>A c.115G>A n.3956G>A c.4604G>A (p.Cys1535Tyr) | |
| 7 | g.135645013G>C | CA369364709 | NUP205 | c.5678G>C (p.Cys1893Ser) n.885G>C c.1405+35G>C c.115G>C n.3956G>C c.4604G>C (p.Cys1535Ser) | |
| 7 | g.135645013G>T | CA369364710 | NUP205 | c.5678G>T (p.Cys1893Phe) n.885G>T c.1405+35G>T c.115G>T n.3956G>T c.4604G>T (p.Cys1535Phe) | |
| 7 | g.135645014T>A | CA369364711 | NUP205 | c.5679T>A (p.Cys1893Ter) n.886T>A c.1405+36T>A c.116T>A n.3957T>A c.4605T>A (p.Cys1535Ter) | |
| 7 | g.135645014T>C | CA457931804 | NUP205 | c.5679T>C (p.Cys1893=) n.886T>C c.1405+36T>C c.116T>C n.3957T>C c.4605T>C (p.Cys1535=) | |
| 7 | g.135645014T>G | CA369364712 | NUP205 | c.5679T>G (p.Cys1893Trp) n.886T>G c.1405+36T>G c.116T>G n.3957T>G c.4605T>G (p.Cys1535Trp) | |
| 7 | g.135645015T>A | CA369364713 | NUP205 | c.5680T>A (p.Ser1894Thr) n.887T>A c.1405+37T>A c.117T>A n.3958T>A c.4606T>A (p.Ser1536Thr) | |
| 7 | g.135645015T>C | CA369364714 | NUP205 | c.5680T>C (p.Ser1894Pro) n.887T>C c.1405+37T>C c.117T>C n.3958T>C c.4606T>C (p.Ser1536Pro) | |
| 7 | g.135645015T>G | CA369364715 | NUP205 | c.5680T>G (p.Ser1894Ala) n.887T>G c.1405+37T>G c.117T>G n.3958T>G c.4606T>G (p.Ser1536Ala) | |
| 7 | g.135645016C>A | CA369364716 | NUP205 | c.5681C>A (p.Ser1894Tyr) n.888C>A c.1405+38C>A c.118C>A n.3959C>A c.4607C>A (p.Ser1536Tyr) | |
| 7 | g.135645016C>G | CA369364717 | NUP205 | c.5681C>G (p.Ser1894Cys) n.888C>G c.1405+38C>G c.118C>G n.3959C>G c.4607C>G (p.Ser1536Cys) | |
| 7 | g.135645016C>T | CA4499241 | NUP205 | c.5681C>T (p.Ser1894Phe) n.888C>T c.1405+38C>T c.118C>T n.3959C>T c.4607C>T (p.Ser1536Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135645017T>A | CA457931805 | NUP205 | c.5682T>A (p.Ser1894=) n.889T>A c.1405+39T>A c.119T>A n.3960T>A c.4608T>A (p.Ser1536=) | dbSNP |
| 7 | g.135645017T>C | CA457931806 | NUP205 | c.5682T>C (p.Ser1894=) n.889T>C c.1405+39T>C c.119T>C n.3960T>C c.4608T>C (p.Ser1536=) | |
| 7 | g.135645017T>G | CA457931807 | NUP205 | c.5682T>G (p.Ser1894=) n.889T>G c.1405+39T>G c.119T>G n.3960T>G c.4608T>G (p.Ser1536=) | |
| 7 | g.135645018T>A | CA369364718 | NUP205 | c.5683T>A (p.Phe1895Ile) n.890T>A c.1405+40T>A c.120T>A n.3961T>A c.4609T>A (p.Phe1537Ile) | |
| 7 | g.135645018T>C | CA369364719 | NUP205 | c.5683T>C (p.Phe1895Leu) n.890T>C c.1405+40T>C c.120T>C n.3961T>C c.4609T>C (p.Phe1537Leu) | |
| 7 | g.135645018T>G | CA369364720 | NUP205 | c.5683T>G (p.Phe1895Val) n.890T>G c.1405+40T>G c.120T>G n.3961T>G c.4609T>G (p.Phe1537Val) | |
| 7 | g.135645019G>A | CA369364721 | NUP205 | c.5683+1G>A (n.5683+1G>A) n.890+1G>A c.1405+41G>A c.120+1G>A n.3961+1G>A c.4609+1G>A (n.4609+1G>A) | |
| 7 | g.135645019G>C | CA369364722 | NUP205 | c.5683+1G>C (n.5683+1G>C) n.890+1G>C c.1405+41G>C c.120+1G>C n.3961+1G>C c.4609+1G>C (n.4609+1G>C) | |
| 7 | g.135645019G>T | CA369364723 | NUP205 | c.5683+1G>T (n.5683+1G>T) n.890+1G>T c.1405+41G>T c.120+1G>T n.3961+1G>T c.4609+1G>T (n.4609+1G>T) | |
| 7 | g.135645020T>A | CA369364726 | NUP205 | c.5683+2T>A (n.5683+2T>A) n.890+2T>A c.1405+42T>A c.120+2T>A n.3961+2T>A c.4609+2T>A (n.4609+2T>A) | |
| 7 | g.135645020T>C | CA369364725 | NUP205 | c.5683+2T>C (n.5683+2T>C) n.890+2T>C c.1405+42T>C c.120+2T>C n.3961+2T>C c.4609+2T>C (n.4609+2T>C) | |
| 7 | g.135645020T>G | CA369364724 | NUP205 | c.5683+2T>G (n.5683+2T>G) n.890+2T>G c.1405+42T>G c.120+2T>G n.3961+2T>G c.4609+2T>G (n.4609+2T>G) | |
| 7 | g.135645024C>A | CA2778028676 | NUP205 | c.5683+6C>A (n.5683+6C>A) n.890+6C>A c.1405+46C>A c.120+6C>A n.3961+6C>A c.4609+6C>A (n.4609+6C>A) | |
| 7 | g.135645024C>G | CA577830218 | NUP205 | c.5683+6C>G (n.5683+6C>G) n.890+6C>G c.1405+46C>G c.120+6C>G n.3961+6C>G c.4609+6C>G (n.4609+6C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.135645024C>T | CA2715655932 | NUP205 | c.5683+6C>T (n.5683+6C>T) n.890+6C>T c.1405+46C>T c.120+6C>T n.3961+6C>T c.4609+6C>T (n.4609+6C>T) | dbSNP |
| 7 | g.135645028A>G | CA4499242 | NUP205 | c.5683+10A>G (n.5683+10A>G) n.890+10A>G c.1405+50A>G c.120+10A>G n.3961+10A>G c.4609+10A>G (n.4609+10A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.135645028A>T | CA577830220 | NUP205 | c.5683+10A>T (n.5683+10A>T) n.890+10A>T c.1405+50A>T c.120+10A>T n.3961+10A>T c.4609+10A>T (n.4609+10A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.135645029T>C | CA2579030792 | NUP205 | c.5683+11T>C (n.5683+11T>C) n.890+11T>C c.1405+51T>C c.120+11T>C n.3961+11T>C c.4609+11T>C (n.4609+11T>C) | gnomAD v4 |
| 7 | g.135645030G>A | CA577830222 | NUP205 | c.5683+12G>A (n.5683+12G>A) n.890+12G>A c.1405+52G>A c.120+12G>A n.3961+12G>A c.4609+12G>A (n.4609+12G>A) | dbSNP gnomAD v2 |
| 7 | g.135645030G>T | CA577830223 | NUP205 | c.5683+12G>T (n.5683+12G>T) n.890+12G>T c.1405+52G>T c.120+12G>T n.3961+12G>T c.4609+12G>T (n.4609+12G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.135645033A>G | CA2715697432 | NUP205 | c.5683+15A>G (n.5683+15A>G) n.890+15A>G c.1405+55A>G c.120+15A>G n.3961+15A>G c.4609+15A>G (n.4609+15A>G) | dbSNP |
| 7 | g.135645036A>C | CA2778028677 | NUP205 | c.5683+18A>C (n.5683+18A>C) n.890+18A>C c.1405+58A>C c.120+18A>C n.3961+18A>C c.4609+18A>C (n.4609+18A>C) | |
| 7 | g.135645036A>G | CA577830225 | NUP205 | c.5683+18A>G (n.5683+18A>G) n.890+18A>G c.1405+58A>G c.120+18A>G n.3961+18A>G c.4609+18A>G (n.4609+18A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.135645038G>A | CA833758633 | NUP205 | c.5683+20G>A (n.5683+20G>A) n.890+20G>A c.1405+60G>A c.120+20G>A n.3961+20G>A c.4609+20G>A (n.4609+20G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.135645038G>T | CA2685060043 | NUP205 | c.5683+20G>T (n.5683+20G>T) n.890+20G>T c.1405+60G>T c.120+20G>T n.3961+20G>T c.4609+20G>T (n.4609+20G>T) | gnomAD v4 |
| 7 | g.135645039C>T | CA2685060045 | NUP205 | c.5683+21C>T (n.5683+21C>T) n.890+21C>T c.1405+61C>T c.120+21C>T n.3961+21C>T c.4609+21C>T (n.4609+21C>T) | gnomAD v4 |
| 7 | g.135645041C>A | CA2685060047 | NUP205 | c.5683+23C>A (n.5683+23C>A) n.890+23C>A c.1405+63C>A c.120+23C>A n.3961+23C>A c.4609+23C>A (n.4609+23C>A) | gnomAD v4 |
| 7 | g.135645041C>G | CA577830226 | NUP205 | c.5683+23C>G (n.5683+23C>G) n.890+23C>G c.1405+63C>G c.120+23C>G n.3961+23C>G c.4609+23C>G (n.4609+23C>G) | dbSNP gnomAD v2 |
| 7 | g.135645041C>T | CA2685060048 | NUP205 | c.5683+23C>T (n.5683+23C>T) n.890+23C>T c.1405+63C>T c.120+23C>T n.3961+23C>T c.4609+23C>T (n.4609+23C>T) | gnomAD v4 |
| 7 | g.135645042T>G | CA2685060050 | NUP205 | c.5683+24T>G (n.5683+24T>G) n.890+24T>G c.1405+64T>G c.120+24T>G n.3961+24T>G c.4609+24T>G (n.4609+24T>G) | gnomAD v4 |