Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.206127951_206127954delCA2753990708NDUFS1c.1727_1730del (p.Gly576ValfsTer3)
c.1556_1559del (p.Gly519ValfsTer3)
c.1394_1397del (p.Gly465ValfsTer3)
c.1619_1622del (p.Gly540ValfsTer3)
c.1769_1772del (p.Gly590ValfsTer3)
c.1379_1382del (p.Gly460ValfsTer3)
n.199_202del
c.968_971del (p.Gly323ValfsTer3)
2g.206127954C>ACA350043788NDUFS1c.1727G>T (p.Gly576Val)
c.1556G>T (p.Gly519Val)
c.1394G>T (p.Gly465Val)
c.1619G>T (p.Gly540Val)
c.1769G>T (p.Gly590Val)
c.1379G>T (p.Gly460Val)
n.199G>T
c.968G>T (p.Gly323Val)
2g.206127954C=CA2496479143NDUFS1c.1727G= (p.Gly576=)
c.1556G= (p.Gly519=)
c.1394G= (p.Gly465=)
c.1619G= (p.Gly540=)
c.1769G= (p.Gly590=)
c.1379G= (p.Gly460=)
n.199G=
c.968G= (p.Gly323=)
2g.206127954C>GCA350043789NDUFS1c.1727G>C (p.Gly576Ala)
c.1556G>C (p.Gly519Ala)
c.1394G>C (p.Gly465Ala)
c.1619G>C (p.Gly540Ala)
c.1769G>C (p.Gly590Ala)
c.1379G>C (p.Gly460Ala)
n.199G>C
c.968G>C (p.Gly323Ala)
2g.206127954C>TCA323085NDUFS1c.1727G>A (p.Gly576Glu)
c.1556G>A (p.Gly519Glu)
c.1394G>A (p.Gly465Glu)
c.1619G>A (p.Gly540Glu)
c.1769G>A (p.Gly590Glu)
c.1379G>A (p.Gly460Glu)
n.199G>A
c.968G>A (p.Gly323Glu)
 ClinVar dbSNP
2g.206127955C>ACA350043794NDUFS1c.1726G>T (p.Gly576Trp)
c.1555G>T (p.Gly519Trp)
c.1393G>T (p.Gly465Trp)
c.1618G>T (p.Gly540Trp)
c.1768G>T (p.Gly590Trp)
c.1378G>T (p.Gly460Trp)
n.198G>T
c.967G>T (p.Gly323Trp)
2g.206127955C>GCA350043796NDUFS1c.1726G>C (p.Gly576Arg)
c.1555G>C (p.Gly519Arg)
c.1393G>C (p.Gly465Arg)
c.1618G>C (p.Gly540Arg)
c.1768G>C (p.Gly590Arg)
c.1378G>C (p.Gly460Arg)
n.198G>C
c.967G>C (p.Gly323Arg)
2g.206127955C>TCA350043801NDUFS1c.1726G>A (p.Gly576Arg)
c.1555G>A (p.Gly519Arg)
c.1393G>A (p.Gly465Arg)
c.1618G>A (p.Gly540Arg)
c.1768G>A (p.Gly590Arg)
c.1378G>A (p.Gly460Arg)
n.198G>A
c.967G>A (p.Gly323Arg)
2g.206127956A>CCA430943548NDUFS1c.1725T>G (p.Val575=)
c.1554T>G (p.Val518=)
c.1392T>G (p.Val464=)
c.1617T>G (p.Val539=)
c.1767T>G (p.Val589=)
c.1377T>G (p.Val459=)
n.197T>G
c.966T>G (p.Val322=)
2g.206127956A>GCA430943546NDUFS1c.1725T>C (p.Val575=)
c.1554T>C (p.Val518=)
c.1392T>C (p.Val464=)
c.1617T>C (p.Val539=)
c.1767T>C (p.Val589=)
c.1377T>C (p.Val459=)
n.197T>C
c.966T>C (p.Val322=)
 gnomAD v4
2g.206127956A>TCA430943544NDUFS1c.1725T>A (p.Val575=)
c.1554T>A (p.Val518=)
c.1392T>A (p.Val464=)
c.1617T>A (p.Val539=)
c.1767T>A (p.Val589=)
c.1377T>A (p.Val459=)
n.197T>A
c.966T>A (p.Val322=)
2g.206127957A>CCA350043805NDUFS1c.1724T>G (p.Val575Gly)
c.1553T>G (p.Val518Gly)
c.1391T>G (p.Val464Gly)
c.1616T>G (p.Val539Gly)
c.1766T>G (p.Val589Gly)
c.1376T>G (p.Val459Gly)
n.196T>G
c.965T>G (p.Val322Gly)
2g.206127957A>GCA350043807NDUFS1c.1724T>C (p.Val575Ala)
c.1553T>C (p.Val518Ala)
c.1391T>C (p.Val464Ala)
c.1616T>C (p.Val539Ala)
c.1766T>C (p.Val589Ala)
c.1376T>C (p.Val459Ala)
n.196T>C
c.965T>C (p.Val322Ala)
 gnomAD v4
2g.206127957A>TCA350043808NDUFS1c.1724T>A (p.Val575Asp)
c.1553T>A (p.Val518Asp)
c.1391T>A (p.Val464Asp)
c.1616T>A (p.Val539Asp)
c.1766T>A (p.Val589Asp)
c.1376T>A (p.Val459Asp)
n.196T>A
c.965T>A (p.Val322Asp)
2g.206127958C>ACA350043812NDUFS1c.1723G>T (p.Val575Phe)
c.1552G>T (p.Val518Phe)
c.1390G>T (p.Val464Phe)
c.1615G>T (p.Val539Phe)
c.1765G>T (p.Val589Phe)
c.1375G>T (p.Val459Phe)
n.195G>T
c.964G>T (p.Val322Phe)
2g.206127958C=CA2496479144NDUFS1c.1723G= (p.Val575=)
c.1552G= (p.Val518=)
c.1390G= (p.Val464=)
c.1615G= (p.Val539=)
c.1765G= (p.Val589=)
c.1375G= (p.Val459=)
n.195G=
c.964G= (p.Val322=)
2g.206127958C>GCA350043813NDUFS1c.1723G>C (p.Val575Leu)
c.1552G>C (p.Val518Leu)
c.1390G>C (p.Val464Leu)
c.1615G>C (p.Val539Leu)
c.1765G>C (p.Val589Leu)
c.1375G>C (p.Val459Leu)
n.195G>C
c.964G>C (p.Val322Leu)
2g.206127958C>TCA2070361NDUFS1c.1723G>A (p.Val575Ile)
c.1552G>A (p.Val518Ile)
c.1390G>A (p.Val464Ile)
c.1615G>A (p.Val539Ile)
c.1765G>A (p.Val589Ile)
c.1375G>A (p.Val459Ile)
n.195G>A
c.964G>A (p.Val322Ile)
 dbSNP ExAC gnomAD v2
2g.206127959A>CCA350043817NDUFS1c.1722T>G (p.Asp574Glu)
c.1551T>G (p.Asp517Glu)
c.1389T>G (p.Asp463Glu)
c.1614T>G (p.Asp538Glu)
c.1764T>G (p.Asp588Glu)
c.1374T>G (p.Asp458Glu)
n.194T>G
c.963T>G (p.Asp321Glu)
2g.206127959A>GCA430943560NDUFS1c.1722T>C (p.Asp574=)
c.1551T>C (p.Asp517=)
c.1389T>C (p.Asp463=)
c.1614T>C (p.Asp538=)
c.1764T>C (p.Asp588=)
c.1374T>C (p.Asp458=)
n.194T>C
c.963T>C (p.Asp321=)
2g.206127959A>TCA350043814NDUFS1c.1722T>A (p.Asp574Glu)
c.1551T>A (p.Asp517Glu)
c.1389T>A (p.Asp463Glu)
c.1614T>A (p.Asp538Glu)
c.1764T>A (p.Asp588Glu)
c.1374T>A (p.Asp458Glu)
n.194T>A
c.963T>A (p.Asp321Glu)
 COSMIC
2g.206127960T>ACA350043820NDUFS1c.1721A>T (p.Asp574Val)
c.1550A>T (p.Asp517Val)
c.1388A>T (p.Asp463Val)
c.1613A>T (p.Asp538Val)
c.1763A>T (p.Asp588Val)
c.1373A>T (p.Asp458Val)
n.193A>T
c.962A>T (p.Asp321Val)
 gnomAD v4
2g.206127960T>CCA350043821NDUFS1c.1721A>G (p.Asp574Gly)
c.1550A>G (p.Asp517Gly)
c.1388A>G (p.Asp463Gly)
c.1613A>G (p.Asp538Gly)
c.1763A>G (p.Asp588Gly)
c.1373A>G (p.Asp458Gly)
n.193A>G
c.962A>G (p.Asp321Gly)
2g.206127960T>GCA350043825NDUFS1c.1721A>C (p.Asp574Ala)
c.1550A>C (p.Asp517Ala)
c.1388A>C (p.Asp463Ala)
c.1613A>C (p.Asp538Ala)
c.1763A>C (p.Asp588Ala)
c.1373A>C (p.Asp458Ala)
n.193A>C
c.962A>C (p.Asp321Ala)
2g.206127961C>ACA350043828NDUFS1c.1720G>T (p.Asp574Tyr)
c.1549G>T (p.Asp517Tyr)
c.1387G>T (p.Asp463Tyr)
c.1612G>T (p.Asp538Tyr)
c.1762G>T (p.Asp588Tyr)
c.1372G>T (p.Asp458Tyr)
n.192G>T
c.961G>T (p.Asp321Tyr)
2g.206127961C=CA2496479145NDUFS1c.1720G= (p.Asp574=)
c.1549G= (p.Asp517=)
c.1387G= (p.Asp463=)
c.1612G= (p.Asp538=)
c.1762G= (p.Asp588=)
c.1372G= (p.Asp458=)
n.192G=
c.961G= (p.Asp321=)
2g.206127961C>GCA350043831NDUFS1c.1720G>C (p.Asp574His)
c.1549G>C (p.Asp517His)
c.1387G>C (p.Asp463His)
c.1612G>C (p.Asp538His)
c.1762G>C (p.Asp588His)
c.1372G>C (p.Asp458His)
n.192G>C
c.961G>C (p.Asp321His)
2g.206127961C>TCA63648769NDUFS1c.1720G>A (p.Asp574Asn)
c.1549G>A (p.Asp517Asn)
c.1387G>A (p.Asp463Asn)
c.1612G>A (p.Asp538Asn)
c.1762G>A (p.Asp588Asn)
c.1372G>A (p.Asp458Asn)
n.192G>A
c.961G>A (p.Asp321Asn)
 dbSNP gnomAD v4
2g.206127962A>CCA430943573NDUFS1c.1719T>G (p.Gly573=)
c.1548T>G (p.Gly516=)
c.1386T>G (p.Gly462=)
c.1611T>G (p.Gly537=)
c.1761T>G (p.Gly587=)
c.1371T>G (p.Gly457=)
n.191T>G
c.960T>G (p.Gly320=)
 gnomAD v4
2g.206127962A>GCA430943575NDUFS1c.1719T>C (p.Gly573=)
c.1548T>C (p.Gly516=)
c.1386T>C (p.Gly462=)
c.1611T>C (p.Gly537=)
c.1761T>C (p.Gly587=)
c.1371T>C (p.Gly457=)
n.191T>C
c.960T>C (p.Gly320=)
2g.206127962A>TCA430943577NDUFS1c.1719T>A (p.Gly573=)
c.1548T>A (p.Gly516=)
c.1386T>A (p.Gly462=)
c.1611T>A (p.Gly537=)
c.1761T>A (p.Gly587=)
c.1371T>A (p.Gly457=)
n.191T>A
c.960T>A (p.Gly320=)
2g.206127963C>ACA2070362NDUFS1c.1718G>T (p.Gly573Val)
c.1547G>T (p.Gly516Val)
c.1385G>T (p.Gly462Val)
c.1610G>T (p.Gly537Val)
c.1760G>T (p.Gly587Val)
c.1370G>T (p.Gly457Val)
n.190G>T
c.959G>T (p.Gly320Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.206127963C=CA2496479146NDUFS1c.1718G= (p.Gly573=)
c.1547G= (p.Gly516=)
c.1385G= (p.Gly462=)
c.1610G= (p.Gly537=)
c.1760G= (p.Gly587=)
c.1370G= (p.Gly457=)
n.190G=
c.959G= (p.Gly320=)
2g.206127963C>GCA350043837NDUFS1c.1718G>C (p.Gly573Ala)
c.1547G>C (p.Gly516Ala)
c.1385G>C (p.Gly462Ala)
c.1610G>C (p.Gly537Ala)
c.1760G>C (p.Gly587Ala)
c.1370G>C (p.Gly457Ala)
n.190G>C
c.959G>C (p.Gly320Ala)
2g.206127963C>TCA350043839NDUFS1c.1718G>A (p.Gly573Asp)
c.1547G>A (p.Gly516Asp)
c.1385G>A (p.Gly462Asp)
c.1610G>A (p.Gly537Asp)
c.1760G>A (p.Gly587Asp)
c.1370G>A (p.Gly457Asp)
n.190G>A
c.959G>A (p.Gly320Asp)
2g.206127964C>ACA350043845NDUFS1c.1717G>T (p.Gly573Cys)
c.1546G>T (p.Gly516Cys)
c.1384G>T (p.Gly462Cys)
c.1609G>T (p.Gly537Cys)
c.1759G>T (p.Gly587Cys)
c.1369G>T (p.Gly457Cys)
n.189G>T
c.958G>T (p.Gly320Cys)
2g.206127964C=CA2496479147NDUFS1c.1717G= (p.Gly573=)
c.1546G= (p.Gly516=)
c.1384G= (p.Gly462=)
c.1609G= (p.Gly537=)
c.1759G= (p.Gly587=)
c.1369G= (p.Gly457=)
n.189G=
c.958G= (p.Gly320=)
2g.206127964C>GCA350043848NDUFS1c.1717G>C (p.Gly573Arg)
c.1546G>C (p.Gly516Arg)
c.1384G>C (p.Gly462Arg)
c.1609G>C (p.Gly537Arg)
c.1759G>C (p.Gly587Arg)
c.1369G>C (p.Gly457Arg)
n.189G>C
c.958G>C (p.Gly320Arg)
2g.206127964C>TCA350043851NDUFS1c.1717G>A (p.Gly573Ser)
c.1546G>A (p.Gly516Ser)
c.1384G>A (p.Gly462Ser)
c.1609G>A (p.Gly537Ser)
c.1759G>A (p.Gly587Ser)
c.1369G>A (p.Gly457Ser)
n.189G>A
c.958G>A (p.Gly320Ser)
 dbSNP gnomAD v4
2g.206127965A=CA2496479148NDUFS1c.1716T= (p.His572=)
c.1545T= (p.His515=)
c.1383T= (p.His461=)
c.1608T= (p.His536=)
c.1758T= (p.His586=)
c.1368T= (p.His456=)
n.188T=
c.957T= (p.His319=)
2g.206127965A>CCA350043855NDUFS1c.1716T>G (p.His572Gln)
c.1545T>G (p.His515Gln)
c.1383T>G (p.His461Gln)
c.1608T>G (p.His536Gln)
c.1758T>G (p.His586Gln)
c.1368T>G (p.His456Gln)
n.188T>G
c.957T>G (p.His319Gln)
2g.206127965A>GCA430943588NDUFS1c.1716T>C (p.His572=)
c.1545T>C (p.His515=)
c.1383T>C (p.His461=)
c.1608T>C (p.His536=)
c.1758T>C (p.His586=)
c.1368T>C (p.His456=)
n.188T>C
c.957T>C (p.His319=)
 dbSNP gnomAD v2 gnomAD v4
2g.206127965A>TCA350043857NDUFS1c.1716T>A (p.His572Gln)
c.1545T>A (p.His515Gln)
c.1383T>A (p.His461Gln)
c.1608T>A (p.His536Gln)
c.1758T>A (p.His586Gln)
c.1368T>A (p.His456Gln)
n.188T>A
c.957T>A (p.His319Gln)
2g.206127966T>ACA350043863NDUFS1c.1715A>T (p.His572Leu)
c.1544A>T (p.His515Leu)
c.1382A>T (p.His461Leu)
c.1607A>T (p.His536Leu)
c.1757A>T (p.His586Leu)
c.1367A>T (p.His456Leu)
n.187A>T
c.956A>T (p.His319Leu)
2g.206127966T>CCA350043865NDUFS1c.1715A>G (p.His572Arg)
c.1544A>G (p.His515Arg)
c.1382A>G (p.His461Arg)
c.1607A>G (p.His536Arg)
c.1757A>G (p.His586Arg)
c.1367A>G (p.His456Arg)
n.187A>G
c.956A>G (p.His319Arg)
2g.206127966T>GCA350043867NDUFS1c.1715A>C (p.His572Pro)
c.1544A>C (p.His515Pro)
c.1382A>C (p.His461Pro)
c.1607A>C (p.His536Pro)
c.1757A>C (p.His586Pro)
c.1367A>C (p.His456Pro)
n.187A>C
c.956A>C (p.His319Pro)
2g.206127966_206127967insACACA2753990709NDUFS1c.1714_1715insTGT (p.His572delinsLeuTyr)
c.1543_1544insTGT (p.His515delinsLeuTyr)
c.1381_1382insTGT (p.His461delinsLeuTyr)
c.1606_1607insTGT (p.His536delinsLeuTyr)
c.1756_1757insTGT (p.His586delinsLeuTyr)
c.1366_1367insTGT (p.His456delinsLeuTyr)
n.186_187insTGT
c.955_956insTGT (p.His319delinsLeuTyr)
2g.206127967G>ACA350043870NDUFS1c.1714C>T (p.His572Tyr)
c.1543C>T (p.His515Tyr)
c.1381C>T (p.His461Tyr)
c.1606C>T (p.His536Tyr)
c.1756C>T (p.His586Tyr)
c.1366C>T (p.His456Tyr)
n.186C>T
c.955C>T (p.His319Tyr)
2g.206127967G>CCA350043872NDUFS1c.1714C>G (p.His572Asp)
c.1543C>G (p.His515Asp)
c.1381C>G (p.His461Asp)
c.1606C>G (p.His536Asp)
c.1756C>G (p.His586Asp)
c.1366C>G (p.His456Asp)
n.186C>G
c.955C>G (p.His319Asp)
2g.206127967G>TCA350043875NDUFS1c.1714C>A (p.His572Asn)
c.1543C>A (p.His515Asn)
c.1381C>A (p.His461Asn)
c.1606C>A (p.His536Asn)
c.1756C>A (p.His586Asn)
c.1366C>A (p.His456Asn)
n.186C>A
c.955C>A (p.His319Asn)

Number of alleles fetched