Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688158T>A | CA346745647 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1639A>T (p.Ile547Phe) c.948-19A>T (n.948-19A>T) c.3441+16478T>A (n.3441+16478T>A) c.*383A>T (n.*383A>T) c.1558A>T (p.Ile520Phe) c.276+16478T>A (n.276+16478T>A) c.*220+6066A>T (n.*220+6066A>T) c.682A>T (p.Ile228Phe) c.709A>T (p.Ile237Phe) c.1564A>T (p.Ile522Phe) c.1378A>T (p.Ile460Phe) c.1297A>T (p.Ile433Phe) c.1003A>T (p.Ile335Phe) c.1384A>T (p.Ile462Phe) | |
2 | g.48688158T>C | CA346745648 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1639A>G (p.Ile547Val) c.948-19A>G (n.948-19A>G) c.3441+16478T>C (n.3441+16478T>C) c.*383A>G (n.*383A>G) c.1558A>G (p.Ile520Val) c.276+16478T>C (n.276+16478T>C) c.*220+6066A>G (n.*220+6066A>G) c.682A>G (p.Ile228Val) c.709A>G (p.Ile237Val) c.1564A>G (p.Ile522Val) c.1378A>G (p.Ile460Val) c.1297A>G (p.Ile433Val) c.1003A>G (p.Ile335Val) c.1384A>G (p.Ile462Val) | |
2 | g.48688158T>G | CA346745650 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1639A>C (p.Ile547Leu) c.948-19A>C (n.948-19A>C) c.3441+16478T>G (n.3441+16478T>G) c.*383A>C (n.*383A>C) c.1558A>C (p.Ile520Leu) c.276+16478T>G (n.276+16478T>G) c.*220+6066A>C (n.*220+6066A>C) c.682A>C (p.Ile228Leu) c.709A>C (p.Ile237Leu) c.1564A>C (p.Ile522Leu) c.1378A>C (p.Ile460Leu) c.1297A>C (p.Ile433Leu) c.1003A>C (p.Ile335Leu) c.1384A>C (p.Ile462Leu) | |
2 | g.48688159G>A | CA1653008 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1638C>T (p.Tyr546=) c.948-20C>T (n.948-20C>T) c.3441+16479G>A (n.3441+16479G>A) c.*382C>T (n.*382C>T) c.1557C>T (p.Tyr519=) c.276+16479G>A (n.276+16479G>A) c.*220+6065C>T (n.*220+6065C>T) c.681C>T (p.Tyr227=) c.708C>T (p.Tyr236=) c.1563C>T (p.Tyr521=) c.1377C>T (p.Tyr459=) c.1296C>T (p.Tyr432=) c.1002C>T (p.Tyr334=) c.1383C>T (p.Tyr461=) | dbSNP ExAC gnomAD v4 |
2 | g.48688159G>C | CA346745659 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1638C>G (p.Tyr546Ter) c.948-20C>G (n.948-20C>G) c.3441+16479G>C (n.3441+16479G>C) c.*382C>G (n.*382C>G) c.1557C>G (p.Tyr519Ter) c.276+16479G>C (n.276+16479G>C) c.*220+6065C>G (n.*220+6065C>G) c.681C>G (p.Tyr227Ter) c.708C>G (p.Tyr236Ter) c.1563C>G (p.Tyr521Ter) c.1377C>G (p.Tyr459Ter) c.1296C>G (p.Tyr432Ter) c.1002C>G (p.Tyr334Ter) c.1383C>G (p.Tyr461Ter) | |
2 | g.48688159G= | CA1248601012 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1638C= (p.Tyr546=) c.948-20C= (n.948-20C=) c.3441+16479G= (n.3441+16479G=) c.*382C= (n.*382C=) c.1557C= (p.Tyr519=) c.276+16479G= (n.276+16479G=) c.*220+6065C= (n.*220+6065C=) c.681C= (p.Tyr227=) c.708C= (p.Tyr236=) c.1563C= (p.Tyr521=) c.1377C= (p.Tyr459=) c.1296C= (p.Tyr432=) c.1002C= (p.Tyr334=) c.1383C= (p.Tyr461=) | |
2 | g.48688159G>T | CA346745663 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1638C>A (p.Tyr546Ter) c.948-20C>A (n.948-20C>A) c.3441+16479G>T (n.3441+16479G>T) c.*382C>A (n.*382C>A) c.1557C>A (p.Tyr519Ter) c.276+16479G>T (n.276+16479G>T) c.*220+6065C>A (n.*220+6065C>A) c.681C>A (p.Tyr227Ter) c.708C>A (p.Tyr236Ter) c.1563C>A (p.Tyr521Ter) c.1377C>A (p.Tyr459Ter) c.1296C>A (p.Tyr432Ter) c.1002C>A (p.Tyr334Ter) c.1383C>A (p.Tyr461Ter) | |
2 | g.48688160T>A | CA346745671 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1637A>T (p.Tyr546Phe) c.948-21A>T (n.948-21A>T) c.3441+16480T>A (n.3441+16480T>A) c.*381A>T (n.*381A>T) c.1556A>T (p.Tyr519Phe) c.276+16480T>A (n.276+16480T>A) c.*220+6064A>T (n.*220+6064A>T) c.680A>T (p.Tyr227Phe) c.707A>T (p.Tyr236Phe) c.1562A>T (p.Tyr521Phe) c.1376A>T (p.Tyr459Phe) c.1295A>T (p.Tyr432Phe) c.1001A>T (p.Tyr334Phe) c.1382A>T (p.Tyr461Phe) | |
2 | g.48688160T>C | CA346745668 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1637A>G (p.Tyr546Cys) c.948-21A>G (n.948-21A>G) c.3441+16480T>C (n.3441+16480T>C) c.*381A>G (n.*381A>G) c.1556A>G (p.Tyr519Cys) c.276+16480T>C (n.276+16480T>C) c.*220+6064A>G (n.*220+6064A>G) c.680A>G (p.Tyr227Cys) c.707A>G (p.Tyr236Cys) c.1562A>G (p.Tyr521Cys) c.1376A>G (p.Tyr459Cys) c.1295A>G (p.Tyr432Cys) c.1001A>G (p.Tyr334Cys) c.1382A>G (p.Tyr461Cys) | |
2 | g.48688160T>G | CA346745666 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1637A>C (p.Tyr546Ser) c.948-21A>C (n.948-21A>C) c.3441+16480T>G (n.3441+16480T>G) c.*381A>C (n.*381A>C) c.1556A>C (p.Tyr519Ser) c.276+16480T>G (n.276+16480T>G) c.*220+6064A>C (n.*220+6064A>C) c.680A>C (p.Tyr227Ser) c.707A>C (p.Tyr236Ser) c.1562A>C (p.Tyr521Ser) c.1376A>C (p.Tyr459Ser) c.1295A>C (p.Tyr432Ser) c.1001A>C (p.Tyr334Ser) c.1382A>C (p.Tyr461Ser) | |
2 | g.48688161A>C | CA346745675 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1636T>G (p.Tyr546Asp) c.948-22T>G (n.948-22T>G) c.3441+16481A>C (n.3441+16481A>C) c.*380T>G (n.*380T>G) c.1555T>G (p.Tyr519Asp) c.276+16481A>C (n.276+16481A>C) c.*220+6063T>G (n.*220+6063T>G) c.679T>G (p.Tyr227Asp) c.706T>G (p.Tyr236Asp) c.1561T>G (p.Tyr521Asp) c.1375T>G (p.Tyr459Asp) c.1294T>G (p.Tyr432Asp) c.1000T>G (p.Tyr334Asp) c.1381T>G (p.Tyr461Asp) | |
2 | g.48688161A>G | CA346745678 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1636T>C (p.Tyr546His) c.948-22T>C (n.948-22T>C) c.3441+16481A>G (n.3441+16481A>G) c.*380T>C (n.*380T>C) c.1555T>C (p.Tyr519His) c.276+16481A>G (n.276+16481A>G) c.*220+6063T>C (n.*220+6063T>C) c.679T>C (p.Tyr227His) c.706T>C (p.Tyr236His) c.1561T>C (p.Tyr521His) c.1375T>C (p.Tyr459His) c.1294T>C (p.Tyr432His) c.1000T>C (p.Tyr334His) c.1381T>C (p.Tyr461His) | gnomAD v4 |
2 | g.48688161A>T | CA346745680 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1636T>A (p.Tyr546Asn) c.948-22T>A (n.948-22T>A) c.3441+16481A>T (n.3441+16481A>T) c.*380T>A (n.*380T>A) c.1555T>A (p.Tyr519Asn) c.276+16481A>T (n.276+16481A>T) c.*220+6063T>A (n.*220+6063T>A) c.679T>A (p.Tyr227Asn) c.706T>A (p.Tyr236Asn) c.1561T>A (p.Tyr521Asn) c.1375T>A (p.Tyr459Asn) c.1294T>A (p.Tyr432Asn) c.1000T>A (p.Tyr334Asn) c.1381T>A (p.Tyr461Asn) | |
2 | g.48688162G>A | CA426125189 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1635C>T (p.Cys545=) c.948-23C>T (n.948-23C>T) c.3441+16482G>A (n.3441+16482G>A) c.*379C>T (n.*379C>T) c.1554C>T (p.Cys518=) c.276+16482G>A (n.276+16482G>A) c.*220+6062C>T (n.*220+6062C>T) c.678C>T (p.Cys226=) c.705C>T (p.Cys235=) c.1560C>T (p.Cys520=) c.1374C>T (p.Cys458=) c.1293C>T (p.Cys431=) c.999C>T (p.Cys333=) c.1380C>T (p.Cys460=) | |
2 | g.48688162G>C | CA346745684 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1635C>G (p.Cys545Trp) c.948-23C>G (n.948-23C>G) c.3441+16482G>C (n.3441+16482G>C) c.*379C>G (n.*379C>G) c.1554C>G (p.Cys518Trp) c.276+16482G>C (n.276+16482G>C) c.*220+6062C>G (n.*220+6062C>G) c.678C>G (p.Cys226Trp) c.705C>G (p.Cys235Trp) c.1560C>G (p.Cys520Trp) c.1374C>G (p.Cys458Trp) c.1293C>G (p.Cys431Trp) c.999C>G (p.Cys333Trp) c.1380C>G (p.Cys460Trp) | gnomAD v4 |
2 | g.48688162G= | CA1248601013 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1635C= (p.Cys545=) c.948-23C= (n.948-23C=) c.3441+16482G= (n.3441+16482G=) c.*379C= (n.*379C=) c.1554C= (p.Cys518=) c.276+16482G= (n.276+16482G=) c.*220+6062C= (n.*220+6062C=) c.678C= (p.Cys226=) c.705C= (p.Cys235=) c.1560C= (p.Cys520=) c.1374C= (p.Cys458=) c.1293C= (p.Cys431=) c.999C= (p.Cys333=) c.1380C= (p.Cys460=) | |
2 | g.48688162G>T | CA250647 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1635C>A (p.Cys545Ter) c.948-23C>A (n.948-23C>A) c.3441+16482G>T (n.3441+16482G>T) c.*379C>A (n.*379C>A) c.1554C>A (p.Cys518Ter) c.276+16482G>T (n.276+16482G>T) c.*220+6062C>A (n.*220+6062C>A) c.678C>A (p.Cys226Ter) c.705C>A (p.Cys235Ter) c.1560C>A (p.Cys520Ter) c.1374C>A (p.Cys458Ter) c.1293C>A (p.Cys431Ter) c.999C>A (p.Cys333Ter) c.1380C>A (p.Cys460Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688163C>A | CA346745689 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1634G>T (p.Cys545Phe) c.948-24G>T (n.948-24G>T) c.3441+16483C>A (n.3441+16483C>A) c.*378G>T (n.*378G>T) c.1553G>T (p.Cys518Phe) c.276+16483C>A (n.276+16483C>A) c.*220+6061G>T (n.*220+6061G>T) c.677G>T (p.Cys226Phe) c.704G>T (p.Cys235Phe) c.1559G>T (p.Cys520Phe) c.1373G>T (p.Cys458Phe) c.1292G>T (p.Cys431Phe) c.998G>T (p.Cys333Phe) c.1379G>T (p.Cys460Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688163C= | CA1248601014 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1634G= (p.Cys545=) c.948-24G= (n.948-24G=) c.3441+16483C= (n.3441+16483C=) c.*378G= (n.*378G=) c.1553G= (p.Cys518=) c.276+16483C= (n.276+16483C=) c.*220+6061G= (n.*220+6061G=) c.677G= (p.Cys226=) c.704G= (p.Cys235=) c.1559G= (p.Cys520=) c.1373G= (p.Cys458=) c.1292G= (p.Cys431=) c.998G= (p.Cys333=) c.1379G= (p.Cys460=) | |
2 | g.48688163C>G | CA346745688 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1634G>C (p.Cys545Ser) c.948-24G>C (n.948-24G>C) c.3441+16483C>G (n.3441+16483C>G) c.*378G>C (n.*378G>C) c.1553G>C (p.Cys518Ser) c.276+16483C>G (n.276+16483C>G) c.*220+6061G>C (n.*220+6061G>C) c.677G>C (p.Cys226Ser) c.704G>C (p.Cys235Ser) c.1559G>C (p.Cys520Ser) c.1373G>C (p.Cys458Ser) c.1292G>C (p.Cys431Ser) c.998G>C (p.Cys333Ser) c.1379G>C (p.Cys460Ser) | gnomAD v4 |
2 | g.48688163C>T | CA346745687 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1634G>A (p.Cys545Tyr) c.948-24G>A (n.948-24G>A) c.3441+16483C>T (n.3441+16483C>T) c.*378G>A (n.*378G>A) c.1553G>A (p.Cys518Tyr) c.276+16483C>T (n.276+16483C>T) c.*220+6061G>A (n.*220+6061G>A) c.677G>A (p.Cys226Tyr) c.704G>A (p.Cys235Tyr) c.1559G>A (p.Cys520Tyr) c.1373G>A (p.Cys458Tyr) c.1292G>A (p.Cys431Tyr) c.998G>A (p.Cys333Tyr) c.1379G>A (p.Cys460Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688164A>C | CA346745691 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1633T>G (p.Cys545Gly) c.948-25T>G (n.948-25T>G) c.3441+16484A>C (n.3441+16484A>C) c.*377T>G (n.*377T>G) c.1552T>G (p.Cys518Gly) c.276+16484A>C (n.276+16484A>C) c.*220+6060T>G (n.*220+6060T>G) c.676T>G (p.Cys226Gly) c.703T>G (p.Cys235Gly) c.1558T>G (p.Cys520Gly) c.1372T>G (p.Cys458Gly) c.1291T>G (p.Cys431Gly) c.997T>G (p.Cys333Gly) c.1378T>G (p.Cys460Gly) | |
2 | g.48688164A>G | CA346745693 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1633T>C (p.Cys545Arg) c.948-25T>C (n.948-25T>C) c.3441+16484A>G (n.3441+16484A>G) c.*377T>C (n.*377T>C) c.1552T>C (p.Cys518Arg) c.276+16484A>G (n.276+16484A>G) c.*220+6060T>C (n.*220+6060T>C) c.676T>C (p.Cys226Arg) c.703T>C (p.Cys235Arg) c.1558T>C (p.Cys520Arg) c.1372T>C (p.Cys458Arg) c.1291T>C (p.Cys431Arg) c.997T>C (p.Cys333Arg) c.1378T>C (p.Cys460Arg) | |
2 | g.48688164A>T | CA346745694 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1633T>A (p.Cys545Ser) c.948-25T>A (n.948-25T>A) c.3441+16484A>T (n.3441+16484A>T) c.*377T>A (n.*377T>A) c.1552T>A (p.Cys518Ser) c.276+16484A>T (n.276+16484A>T) c.*220+6060T>A (n.*220+6060T>A) c.676T>A (p.Cys226Ser) c.703T>A (p.Cys235Ser) c.1558T>A (p.Cys520Ser) c.1372T>A (p.Cys458Ser) c.1291T>A (p.Cys431Ser) c.997T>A (p.Cys333Ser) c.1378T>A (p.Cys460Ser) | |
2 | g.48688165A>C | CA426125196 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1632T>G (p.Ala544=) c.948-26T>G (n.948-26T>G) c.3441+16485A>C (n.3441+16485A>C) c.*376T>G (n.*376T>G) c.1551T>G (p.Ala517=) c.276+16485A>C (n.276+16485A>C) c.*220+6059T>G (n.*220+6059T>G) c.675T>G (p.Ala225=) c.702T>G (p.Ala234=) c.1557T>G (p.Ala519=) c.1371T>G (p.Ala457=) c.1290T>G (p.Ala430=) c.996T>G (p.Ala332=) c.1377T>G (p.Ala459=) | |
2 | g.48688165A>G | CA426125198 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1632T>C (p.Ala544=) c.948-26T>C (n.948-26T>C) c.3441+16485A>G (n.3441+16485A>G) c.*376T>C (n.*376T>C) c.1551T>C (p.Ala517=) c.276+16485A>G (n.276+16485A>G) c.*220+6059T>C (n.*220+6059T>C) c.675T>C (p.Ala225=) c.702T>C (p.Ala234=) c.1557T>C (p.Ala519=) c.1371T>C (p.Ala457=) c.1290T>C (p.Ala430=) c.996T>C (p.Ala332=) c.1377T>C (p.Ala459=) | |
2 | g.48688165A>T | CA426125199 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1632T>A (p.Ala544=) c.948-26T>A (n.948-26T>A) c.3441+16485A>T (n.3441+16485A>T) c.*376T>A (n.*376T>A) c.1551T>A (p.Ala517=) c.276+16485A>T (n.276+16485A>T) c.*220+6059T>A (n.*220+6059T>A) c.675T>A (p.Ala225=) c.702T>A (p.Ala234=) c.1557T>A (p.Ala519=) c.1371T>A (p.Ala457=) c.1290T>A (p.Ala430=) c.996T>A (p.Ala332=) c.1377T>A (p.Ala459=) | |
2 | g.48688166G>A | CA346745698 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1631C>T (p.Ala544Val) c.948-27C>T (n.948-27C>T) c.3441+16486G>A (n.3441+16486G>A) c.*375C>T (n.*375C>T) c.1550C>T (p.Ala517Val) c.276+16486G>A (n.276+16486G>A) c.*220+6058C>T (n.*220+6058C>T) c.674C>T (p.Ala225Val) c.701C>T (p.Ala234Val) c.1556C>T (p.Ala519Val) c.1370C>T (p.Ala457Val) c.1289C>T (p.Ala430Val) c.995C>T (p.Ala332Val) c.1376C>T (p.Ala459Val) | |
2 | g.48688166G>C | CA346745702 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1631C>G (p.Ala544Gly) c.948-27C>G (n.948-27C>G) c.3441+16486G>C (n.3441+16486G>C) c.*375C>G (n.*375C>G) c.1550C>G (p.Ala517Gly) c.276+16486G>C (n.276+16486G>C) c.*220+6058C>G (n.*220+6058C>G) c.674C>G (p.Ala225Gly) c.701C>G (p.Ala234Gly) c.1556C>G (p.Ala519Gly) c.1370C>G (p.Ala457Gly) c.1289C>G (p.Ala430Gly) c.995C>G (p.Ala332Gly) c.1376C>G (p.Ala459Gly) | |
2 | g.48688166G>T | CA346745704 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1631C>A (p.Ala544Asp) c.948-27C>A (n.948-27C>A) c.3441+16486G>T (n.3441+16486G>T) c.*375C>A (n.*375C>A) c.1550C>A (p.Ala517Asp) c.276+16486G>T (n.276+16486G>T) c.*220+6058C>A (n.*220+6058C>A) c.674C>A (p.Ala225Asp) c.701C>A (p.Ala234Asp) c.1556C>A (p.Ala519Asp) c.1370C>A (p.Ala457Asp) c.1289C>A (p.Ala430Asp) c.995C>A (p.Ala332Asp) c.1376C>A (p.Ala459Asp) | gnomAD v4 |
2 | g.48688167C>A | CA346745709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1630G>T (p.Ala544Ser) c.948-28G>T (n.948-28G>T) c.3441+16487C>A (n.3441+16487C>A) c.*374G>T (n.*374G>T) c.1549G>T (p.Ala517Ser) c.276+16487C>A (n.276+16487C>A) c.*220+6057G>T (n.*220+6057G>T) c.673G>T (p.Ala225Ser) c.700G>T (p.Ala234Ser) c.1555G>T (p.Ala519Ser) c.1369G>T (p.Ala457Ser) c.1288G>T (p.Ala430Ser) c.994G>T (p.Ala332Ser) c.1375G>T (p.Ala459Ser) | |
2 | g.48688167C>G | CA346745717 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1630G>C (p.Ala544Pro) c.948-28G>C (n.948-28G>C) c.3441+16487C>G (n.3441+16487C>G) c.*374G>C (n.*374G>C) c.1549G>C (p.Ala517Pro) c.276+16487C>G (n.276+16487C>G) c.*220+6057G>C (n.*220+6057G>C) c.673G>C (p.Ala225Pro) c.700G>C (p.Ala234Pro) c.1555G>C (p.Ala519Pro) c.1369G>C (p.Ala457Pro) c.1288G>C (p.Ala430Pro) c.994G>C (p.Ala332Pro) c.1375G>C (p.Ala459Pro) | |
2 | g.48688167C>T | CA346745712 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1630G>A (p.Ala544Thr) c.948-28G>A (n.948-28G>A) c.3441+16487C>T (n.3441+16487C>T) c.*374G>A (n.*374G>A) c.1549G>A (p.Ala517Thr) c.276+16487C>T (n.276+16487C>T) c.*220+6057G>A (n.*220+6057G>A) c.673G>A (p.Ala225Thr) c.700G>A (p.Ala234Thr) c.1555G>A (p.Ala519Thr) c.1369G>A (p.Ala457Thr) c.1288G>A (p.Ala430Thr) c.994G>A (p.Ala332Thr) c.1375G>A (p.Ala459Thr) | |
2 | g.48688168A>C | CA346745720 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1629T>G (p.Cys543Trp) c.948-29T>G (n.948-29T>G) c.3441+16488A>C (n.3441+16488A>C) c.*373T>G (n.*373T>G) c.1548T>G (p.Cys516Trp) c.276+16488A>C (n.276+16488A>C) c.*220+6056T>G (n.*220+6056T>G) c.672T>G (p.Cys224Trp) c.699T>G (p.Cys233Trp) c.1554T>G (p.Cys518Trp) c.1368T>G (p.Cys456Trp) c.1287T>G (p.Cys429Trp) c.993T>G (p.Cys331Trp) c.1374T>G (p.Cys458Trp) | |
2 | g.48688168A>G | CA426125202 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1629T>C (p.Cys543=) c.948-29T>C (n.948-29T>C) c.3441+16488A>G (n.3441+16488A>G) c.*373T>C (n.*373T>C) c.1548T>C (p.Cys516=) c.276+16488A>G (n.276+16488A>G) c.*220+6056T>C (n.*220+6056T>C) c.672T>C (p.Cys224=) c.699T>C (p.Cys233=) c.1554T>C (p.Cys518=) c.1368T>C (p.Cys456=) c.1287T>C (p.Cys429=) c.993T>C (p.Cys331=) c.1374T>C (p.Cys458=) | |
2 | g.48688168A>T | CA346745721 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1629T>A (p.Cys543Ter) c.948-29T>A (n.948-29T>A) c.3441+16488A>T (n.3441+16488A>T) c.*373T>A (n.*373T>A) c.1548T>A (p.Cys516Ter) c.276+16488A>T (n.276+16488A>T) c.*220+6056T>A (n.*220+6056T>A) c.672T>A (p.Cys224Ter) c.699T>A (p.Cys233Ter) c.1554T>A (p.Cys518Ter) c.1368T>A (p.Cys456Ter) c.1287T>A (p.Cys429Ter) c.993T>A (p.Cys331Ter) c.1374T>A (p.Cys458Ter) | |
2 | g.48688169C>A | CA346745724 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1628G>T (p.Cys543Phe) c.948-30G>T (n.948-30G>T) c.3441+16489C>A (n.3441+16489C>A) c.*372G>T (n.*372G>T) c.1547G>T (p.Cys516Phe) c.276+16489C>A (n.276+16489C>A) c.*220+6055G>T (n.*220+6055G>T) c.671G>T (p.Cys224Phe) c.698G>T (p.Cys233Phe) c.1553G>T (p.Cys518Phe) c.1367G>T (p.Cys456Phe) c.1286G>T (p.Cys429Phe) c.992G>T (p.Cys331Phe) c.1373G>T (p.Cys458Phe) | dbSNP |
2 | g.48688169C= | CA1248601015 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1628G= (p.Cys543=) c.948-30G= (n.948-30G=) c.3441+16489C= (n.3441+16489C=) c.*372G= (n.*372G=) c.1547G= (p.Cys516=) c.276+16489C= (n.276+16489C=) c.*220+6055G= (n.*220+6055G=) c.671G= (p.Cys224=) c.698G= (p.Cys233=) c.1553G= (p.Cys518=) c.1367G= (p.Cys456=) c.1286G= (p.Cys429=) c.992G= (p.Cys331=) c.1373G= (p.Cys458=) | |
2 | g.48688169C>G | CA346745727 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1628G>C (p.Cys543Ser) c.948-30G>C (n.948-30G>C) c.3441+16489C>G (n.3441+16489C>G) c.*372G>C (n.*372G>C) c.1547G>C (p.Cys516Ser) c.276+16489C>G (n.276+16489C>G) c.*220+6055G>C (n.*220+6055G>C) c.671G>C (p.Cys224Ser) c.698G>C (p.Cys233Ser) c.1553G>C (p.Cys518Ser) c.1367G>C (p.Cys456Ser) c.1286G>C (p.Cys429Ser) c.992G>C (p.Cys331Ser) c.1373G>C (p.Cys458Ser) | |
2 | g.48688169C>T | CA1653009 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1628G>A (p.Cys543Tyr) c.948-30G>A (n.948-30G>A) c.3441+16489C>T (n.3441+16489C>T) c.*372G>A (n.*372G>A) c.1547G>A (p.Cys516Tyr) c.276+16489C>T (n.276+16489C>T) c.*220+6055G>A (n.*220+6055G>A) c.671G>A (p.Cys224Tyr) c.698G>A (p.Cys233Tyr) c.1553G>A (p.Cys518Tyr) c.1367G>A (p.Cys456Tyr) c.1286G>A (p.Cys429Tyr) c.992G>A (p.Cys331Tyr) c.1373G>A (p.Cys458Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688170A= | CA1248601016 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1627T= (p.Cys543=) c.948-31T= (n.948-31T=) c.3441+16490A= (n.3441+16490A=) c.*371T= (n.*371T=) c.1546T= (p.Cys516=) c.276+16490A= (n.276+16490A=) c.*220+6054T= (n.*220+6054T=) c.670T= (p.Cys224=) c.697T= (p.Cys233=) c.1552T= (p.Cys518=) c.1366T= (p.Cys456=) c.1285T= (p.Cys429=) c.991T= (p.Cys331=) c.1372T= (p.Cys458=) | |
2 | g.48688170A>C | CA346745735 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1627T>G (p.Cys543Gly) c.948-31T>G (n.948-31T>G) c.3441+16490A>C (n.3441+16490A>C) c.*371T>G (n.*371T>G) c.1546T>G (p.Cys516Gly) c.276+16490A>C (n.276+16490A>C) c.*220+6054T>G (n.*220+6054T>G) c.670T>G (p.Cys224Gly) c.697T>G (p.Cys233Gly) c.1552T>G (p.Cys518Gly) c.1366T>G (p.Cys456Gly) c.1285T>G (p.Cys429Gly) c.991T>G (p.Cys331Gly) c.1372T>G (p.Cys458Gly) | |
2 | g.48688170A>G | CA250646 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1627T>C (p.Cys543Arg) c.948-31T>C (n.948-31T>C) c.3441+16490A>G (n.3441+16490A>G) c.*371T>C (n.*371T>C) c.1546T>C (p.Cys516Arg) c.276+16490A>G (n.276+16490A>G) c.*220+6054T>C (n.*220+6054T>C) c.670T>C (p.Cys224Arg) c.697T>C (p.Cys233Arg) c.1552T>C (p.Cys518Arg) c.1366T>C (p.Cys456Arg) c.1285T>C (p.Cys429Arg) c.991T>C (p.Cys331Arg) c.1372T>C (p.Cys458Arg) | ClinVar dbSNP |
2 | g.48688170A>T | CA346745740 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1627T>A (p.Cys543Ser) c.948-31T>A (n.948-31T>A) c.3441+16490A>T (n.3441+16490A>T) c.*371T>A (n.*371T>A) c.1546T>A (p.Cys516Ser) c.276+16490A>T (n.276+16490A>T) c.*220+6054T>A (n.*220+6054T>A) c.670T>A (p.Cys224Ser) c.697T>A (p.Cys233Ser) c.1552T>A (p.Cys518Ser) c.1366T>A (p.Cys456Ser) c.1285T>A (p.Cys429Ser) c.991T>A (p.Cys331Ser) c.1372T>A (p.Cys458Ser) | |
2 | g.48688171A= | CA1248601017 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1626T= (p.Ile542=) c.948-32T= (n.948-32T=) c.3441+16491A= (n.3441+16491A=) c.*370T= (n.*370T=) c.1545T= (p.Ile515=) c.276+16491A= (n.276+16491A=) c.*220+6053T= (n.*220+6053T=) c.669T= (p.Ile223=) c.696T= (p.Ile232=) c.1551T= (p.Ile517=) c.1365T= (p.Ile455=) c.1284T= (p.Ile428=) c.990T= (p.Ile330=) c.1371T= (p.Ile457=) | |
2 | g.48688171A>C | CA346745743 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1626T>G (p.Ile542Met) c.948-32T>G (n.948-32T>G) c.3441+16491A>C (n.3441+16491A>C) c.*370T>G (n.*370T>G) c.1545T>G (p.Ile515Met) c.276+16491A>C (n.276+16491A>C) c.*220+6053T>G (n.*220+6053T>G) c.669T>G (p.Ile223Met) c.696T>G (p.Ile232Met) c.1551T>G (p.Ile517Met) c.1365T>G (p.Ile455Met) c.1284T>G (p.Ile428Met) c.990T>G (p.Ile330Met) c.1371T>G (p.Ile457Met) | dbSNP gnomAD v2 |
2 | g.48688171A>G | CA426125205 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1626T>C (p.Ile542=) c.948-32T>C (n.948-32T>C) c.3441+16491A>G (n.3441+16491A>G) c.*370T>C (n.*370T>C) c.1545T>C (p.Ile515=) c.276+16491A>G (n.276+16491A>G) c.*220+6053T>C (n.*220+6053T>C) c.669T>C (p.Ile223=) c.696T>C (p.Ile232=) c.1551T>C (p.Ile517=) c.1365T>C (p.Ile455=) c.1284T>C (p.Ile428=) c.990T>C (p.Ile330=) c.1371T>C (p.Ile457=) | |
2 | g.48688171A>T | CA426125206 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1626T>A (p.Ile542=) c.948-32T>A (n.948-32T>A) c.3441+16491A>T (n.3441+16491A>T) c.*370T>A (n.*370T>A) c.1545T>A (p.Ile515=) c.276+16491A>T (n.276+16491A>T) c.*220+6053T>A (n.*220+6053T>A) c.669T>A (p.Ile223=) c.696T>A (p.Ile232=) c.1551T>A (p.Ile517=) c.1365T>A (p.Ile455=) c.1284T>A (p.Ile428=) c.990T>A (p.Ile330=) c.1371T>A (p.Ile457=) | |
2 | g.48688172A= | CA1248601018 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1625T= (p.Ile542=) c.948-33T= (n.948-33T=) c.3441+16492A= (n.3441+16492A=) c.*369T= (n.*369T=) c.1544T= (p.Ile515=) c.276+16492A= (n.276+16492A=) c.*220+6052T= (n.*220+6052T=) c.668T= (p.Ile223=) c.695T= (p.Ile232=) c.1550T= (p.Ile517=) c.1364T= (p.Ile455=) c.1283T= (p.Ile428=) c.989T= (p.Ile330=) c.1370T= (p.Ile457=) | |
2 | g.48688172A>C | CA346745748 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1625T>G (p.Ile542Ser) c.948-33T>G (n.948-33T>G) c.3441+16492A>C (n.3441+16492A>C) c.*369T>G (n.*369T>G) c.1544T>G (p.Ile515Ser) c.276+16492A>C (n.276+16492A>C) c.*220+6052T>G (n.*220+6052T>G) c.668T>G (p.Ile223Ser) c.695T>G (p.Ile232Ser) c.1550T>G (p.Ile517Ser) c.1364T>G (p.Ile455Ser) c.1283T>G (p.Ile428Ser) c.989T>G (p.Ile330Ser) c.1370T>G (p.Ile457Ser) | |
2 | g.48688172A>G | CA46752873 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1625T>C (p.Ile542Thr) c.948-33T>C (n.948-33T>C) c.3441+16492A>G (n.3441+16492A>G) c.*369T>C (n.*369T>C) c.1544T>C (p.Ile515Thr) c.276+16492A>G (n.276+16492A>G) c.*220+6052T>C (n.*220+6052T>C) c.668T>C (p.Ile223Thr) c.695T>C (p.Ile232Thr) c.1550T>C (p.Ile517Thr) c.1364T>C (p.Ile455Thr) c.1283T>C (p.Ile428Thr) c.989T>C (p.Ile330Thr) c.1370T>C (p.Ile457Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688172A>T | CA346745752 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1625T>A (p.Ile542Asn) c.948-33T>A (n.948-33T>A) c.3441+16492A>T (n.3441+16492A>T) c.*369T>A (n.*369T>A) c.1544T>A (p.Ile515Asn) c.276+16492A>T (n.276+16492A>T) c.*220+6052T>A (n.*220+6052T>A) c.668T>A (p.Ile223Asn) c.695T>A (p.Ile232Asn) c.1550T>A (p.Ile517Asn) c.1364T>A (p.Ile455Asn) c.1283T>A (p.Ile428Asn) c.989T>A (p.Ile330Asn) c.1370T>A (p.Ile457Asn) | |
2 | g.48688173T>A | CA346745760 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1624A>T (p.Ile542Phe) c.948-34A>T (n.948-34A>T) c.3441+16493T>A (n.3441+16493T>A) c.*368A>T (n.*368A>T) c.1543A>T (p.Ile515Phe) c.276+16493T>A (n.276+16493T>A) c.*220+6051A>T (n.*220+6051A>T) c.667A>T (p.Ile223Phe) c.694A>T (p.Ile232Phe) c.1549A>T (p.Ile517Phe) c.1363A>T (p.Ile455Phe) c.1282A>T (p.Ile428Phe) c.988A>T (p.Ile330Phe) c.1369A>T (p.Ile457Phe) | |
2 | g.48688173T>C | CA346745757 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1624A>G (p.Ile542Val) c.948-34A>G (n.948-34A>G) c.3441+16493T>C (n.3441+16493T>C) c.*368A>G (n.*368A>G) c.1543A>G (p.Ile515Val) c.276+16493T>C (n.276+16493T>C) c.*220+6051A>G (n.*220+6051A>G) c.667A>G (p.Ile223Val) c.694A>G (p.Ile232Val) c.1549A>G (p.Ile517Val) c.1363A>G (p.Ile455Val) c.1282A>G (p.Ile428Val) c.988A>G (p.Ile330Val) c.1369A>G (p.Ile457Val) | gnomAD v4 |
2 | g.48688173T>G | CA123929 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1624A>C (p.Ile542Leu) c.948-34A>C (n.948-34A>C) c.3441+16493T>G (n.3441+16493T>G) c.*368A>C (n.*368A>C) c.1543A>C (p.Ile515Leu) c.276+16493T>G (n.276+16493T>G) c.*220+6051A>C (n.*220+6051A>C) c.667A>C (p.Ile223Leu) c.694A>C (p.Ile232Leu) c.1549A>C (p.Ile517Leu) c.1363A>C (p.Ile455Leu) c.1282A>C (p.Ile428Leu) c.988A>C (p.Ile330Leu) c.1369A>C (p.Ile457Leu) | ClinVar dbSNP |
2 | g.48688173T= | CA1248601019 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1624A= (p.Ile542=) c.948-34A= (n.948-34A=) c.3441+16493T= (n.3441+16493T=) c.*368A= (n.*368A=) c.1543A= (p.Ile515=) c.276+16493T= (n.276+16493T=) c.*220+6051A= (n.*220+6051A=) c.667A= (p.Ile223=) c.694A= (p.Ile232=) c.1549A= (p.Ile517=) c.1363A= (p.Ile455=) c.1282A= (p.Ile428=) c.988A= (p.Ile330=) c.1369A= (p.Ile457=) | |
2 | g.48688174T>A | CA426125211 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1623A>T (p.Ile541=) c.948-35A>T (n.948-35A>T) c.3441+16494T>A (n.3441+16494T>A) c.*367A>T (n.*367A>T) c.1542A>T (p.Ile514=) c.276+16494T>A (n.276+16494T>A) c.*220+6050A>T (n.*220+6050A>T) c.666A>T (p.Ile222=) c.693A>T (p.Ile231=) c.1548A>T (p.Ile516=) c.1362A>T (p.Ile454=) c.1281A>T (p.Ile427=) c.987A>T (p.Ile329=) c.1368A>T (p.Ile456=) | |
2 | g.48688174T>C | CA346745764 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1623A>G (p.Ile541Met) c.948-35A>G (n.948-35A>G) c.3441+16494T>C (n.3441+16494T>C) c.*367A>G (n.*367A>G) c.1542A>G (p.Ile514Met) c.276+16494T>C (n.276+16494T>C) c.*220+6050A>G (n.*220+6050A>G) c.666A>G (p.Ile222Met) c.693A>G (p.Ile231Met) c.1548A>G (p.Ile516Met) c.1362A>G (p.Ile454Met) c.1281A>G (p.Ile427Met) c.987A>G (p.Ile329Met) c.1368A>G (p.Ile456Met) | |
2 | g.48688174T>G | CA426125214 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1623A>C (p.Ile541=) c.948-35A>C (n.948-35A>C) c.3441+16494T>G (n.3441+16494T>G) c.*367A>C (n.*367A>C) c.1542A>C (p.Ile514=) c.276+16494T>G (n.276+16494T>G) c.*220+6050A>C (n.*220+6050A>C) c.666A>C (p.Ile222=) c.693A>C (p.Ile231=) c.1548A>C (p.Ile516=) c.1362A>C (p.Ile454=) c.1281A>C (p.Ile427=) c.987A>C (p.Ile329=) c.1368A>C (p.Ile456=) | |
2 | g.48688175A>C | CA346745770 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1622T>G (p.Ile541Arg) c.948-36T>G (n.948-36T>G) c.3441+16495A>C (n.3441+16495A>C) c.*366T>G (n.*366T>G) c.1541T>G (p.Ile514Arg) c.276+16495A>C (n.276+16495A>C) c.*220+6049T>G (n.*220+6049T>G) c.665T>G (p.Ile222Arg) c.692T>G (p.Ile231Arg) c.1547T>G (p.Ile516Arg) c.1361T>G (p.Ile454Arg) c.1280T>G (p.Ile427Arg) c.986T>G (p.Ile329Arg) c.1367T>G (p.Ile456Arg) | |
2 | g.48688175A>G | CA346745775 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1622T>C (p.Ile541Thr) c.948-36T>C (n.948-36T>C) c.3441+16495A>G (n.3441+16495A>G) c.*366T>C (n.*366T>C) c.1541T>C (p.Ile514Thr) c.276+16495A>G (n.276+16495A>G) c.*220+6049T>C (n.*220+6049T>C) c.665T>C (p.Ile222Thr) c.692T>C (p.Ile231Thr) c.1547T>C (p.Ile516Thr) c.1361T>C (p.Ile454Thr) c.1280T>C (p.Ile427Thr) c.986T>C (p.Ile329Thr) c.1367T>C (p.Ile456Thr) | |
2 | g.48688175A>T | CA346745772 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1622T>A (p.Ile541Lys) c.948-36T>A (n.948-36T>A) c.3441+16495A>T (n.3441+16495A>T) c.*366T>A (n.*366T>A) c.1541T>A (p.Ile514Lys) c.276+16495A>T (n.276+16495A>T) c.*220+6049T>A (n.*220+6049T>A) c.665T>A (p.Ile222Lys) c.692T>A (p.Ile231Lys) c.1547T>A (p.Ile516Lys) c.1361T>A (p.Ile454Lys) c.1280T>A (p.Ile427Lys) c.986T>A (p.Ile329Lys) c.1367T>A (p.Ile456Lys) | COSMIC |
2 | g.48688176T>A | CA346745778 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1621A>T (p.Ile541Leu) c.948-37A>T (n.948-37A>T) c.3441+16496T>A (n.3441+16496T>A) c.*365A>T (n.*365A>T) c.1540A>T (p.Ile514Leu) c.276+16496T>A (n.276+16496T>A) c.*220+6048A>T (n.*220+6048A>T) c.664A>T (p.Ile222Leu) c.691A>T (p.Ile231Leu) c.1546A>T (p.Ile516Leu) c.1360A>T (p.Ile454Leu) c.1279A>T (p.Ile427Leu) c.985A>T (p.Ile329Leu) c.1366A>T (p.Ile456Leu) | |
2 | g.48688176T>C | CA346745783 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1621A>G (p.Ile541Val) c.948-37A>G (n.948-37A>G) c.3441+16496T>C (n.3441+16496T>C) c.*365A>G (n.*365A>G) c.1540A>G (p.Ile514Val) c.276+16496T>C (n.276+16496T>C) c.*220+6048A>G (n.*220+6048A>G) c.664A>G (p.Ile222Val) c.691A>G (p.Ile231Val) c.1546A>G (p.Ile516Val) c.1360A>G (p.Ile454Val) c.1279A>G (p.Ile427Val) c.985A>G (p.Ile329Val) c.1366A>G (p.Ile456Val) | |
2 | g.48688176T>G | CA346745780 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1621A>C (p.Ile541Leu) c.948-37A>C (n.948-37A>C) c.3441+16496T>G (n.3441+16496T>G) c.*365A>C (n.*365A>C) c.1540A>C (p.Ile514Leu) c.276+16496T>G (n.276+16496T>G) c.*220+6048A>C (n.*220+6048A>C) c.664A>C (p.Ile222Leu) c.691A>C (p.Ile231Leu) c.1546A>C (p.Ile516Leu) c.1360A>C (p.Ile454Leu) c.1279A>C (p.Ile427Leu) c.985A>C (p.Ile329Leu) c.1366A>C (p.Ile456Leu) | gnomAD v4 |
2 | g.48688176_48688179delinsTGAA | CA1248601020 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1618_1621delinsTTCA (p.Phe540=) c.948-40_948-37delinsTTCA (n.948-40_948-37delinsTTCA) c.3441+16496_3441+16499delinsTGAA (n.3441+16496_3441+16499delinsTGAA) c.*362_*365delinsTTCA (n.*362_*365delinsTTCA) c.1537_1540delinsTTCA (p.Phe513=) c.276+16496_276+16499delinsTGAA (n.276+16496_276+16499delinsTGAA) c.*220+6045_*220+6048delinsTTCA (n.*220+6045_*220+6048delinsTTCA) c.661_664delinsTTCA (p.Phe221=) c.688_691delinsTTCA (p.Phe230=) c.1543_1546delinsTTCA (p.Phe515=) c.1357_1360delinsTTCA (p.Phe453=) c.1276_1279delinsTTCA (p.Phe426=) c.982_985delinsTTCA (p.Phe328=) c.1363_1366delinsTTCA (p.Phe455=) | |
2 | g.48688177G>A | CA426125217 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1620C>T (p.Phe540=) c.948-38C>T (n.948-38C>T) c.3441+16497G>A (n.3441+16497G>A) c.*364C>T (n.*364C>T) c.1539C>T (p.Phe513=) c.276+16497G>A (n.276+16497G>A) c.*220+6047C>T (n.*220+6047C>T) c.663C>T (p.Phe221=) c.690C>T (p.Phe230=) c.1545C>T (p.Phe515=) c.1359C>T (p.Phe453=) c.1278C>T (p.Phe426=) c.984C>T (p.Phe328=) c.1365C>T (p.Phe455=) | COSMIC |
2 | g.48688177G>C | CA346745784 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1620C>G (p.Phe540Leu) c.948-38C>G (n.948-38C>G) c.3441+16497G>C (n.3441+16497G>C) c.*364C>G (n.*364C>G) c.1539C>G (p.Phe513Leu) c.276+16497G>C (n.276+16497G>C) c.*220+6047C>G (n.*220+6047C>G) c.663C>G (p.Phe221Leu) c.690C>G (p.Phe230Leu) c.1545C>G (p.Phe515Leu) c.1359C>G (p.Phe453Leu) c.1278C>G (p.Phe426Leu) c.984C>G (p.Phe328Leu) c.1365C>G (p.Phe455Leu) | |
2 | g.48688177G>T | CA346745785 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1620C>A (p.Phe540Leu) c.948-38C>A (n.948-38C>A) c.3441+16497G>T (n.3441+16497G>T) c.*364C>A (n.*364C>A) c.1539C>A (p.Phe513Leu) c.276+16497G>T (n.276+16497G>T) c.*220+6047C>A (n.*220+6047C>A) c.663C>A (p.Phe221Leu) c.690C>A (p.Phe230Leu) c.1545C>A (p.Phe515Leu) c.1359C>A (p.Phe453Leu) c.1278C>A (p.Phe426Leu) c.984C>A (p.Phe328Leu) c.1365C>A (p.Phe455Leu) | |
2 | g.48688181_48688183del | CA1653010 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1618_1620del (p.Phe540del) c.948-40_948-38del (n.948-40_948-38del) c.3441+16501_3441+16503del (n.3441+16501_3441+16503del) c.*362_*364del (n.*362_*364del) c.1537_1539del (p.Phe513del) c.276+16501_276+16503del (n.276+16501_276+16503del) c.*220+6045_*220+6047del (n.*220+6045_*220+6047del) c.661_663del (p.Phe221del) c.688_690del (p.Phe230del) c.1543_1545del (p.Phe515del) c.1357_1359del (p.Phe453del) c.1276_1278del (p.Phe426del) c.982_984del (p.Phe328del) c.1363_1365del (p.Phe455del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688178A>C | CA346745788 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1619T>G (p.Phe540Cys) c.948-39T>G (n.948-39T>G) c.3441+16498A>C (n.3441+16498A>C) c.*363T>G (n.*363T>G) c.1538T>G (p.Phe513Cys) c.276+16498A>C (n.276+16498A>C) c.*220+6046T>G (n.*220+6046T>G) c.662T>G (p.Phe221Cys) c.689T>G (p.Phe230Cys) c.1544T>G (p.Phe515Cys) c.1358T>G (p.Phe453Cys) c.1277T>G (p.Phe426Cys) c.983T>G (p.Phe328Cys) c.1364T>G (p.Phe455Cys) | |
2 | g.48688178A>G | CA346745790 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1619T>C (p.Phe540Ser) c.948-39T>C (n.948-39T>C) c.3441+16498A>G (n.3441+16498A>G) c.*363T>C (n.*363T>C) c.1538T>C (p.Phe513Ser) c.276+16498A>G (n.276+16498A>G) c.*220+6046T>C (n.*220+6046T>C) c.662T>C (p.Phe221Ser) c.689T>C (p.Phe230Ser) c.1544T>C (p.Phe515Ser) c.1358T>C (p.Phe453Ser) c.1277T>C (p.Phe426Ser) c.983T>C (p.Phe328Ser) c.1364T>C (p.Phe455Ser) | |
2 | g.48688178A>T | CA346745794 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1619T>A (p.Phe540Tyr) c.948-39T>A (n.948-39T>A) c.3441+16498A>T (n.3441+16498A>T) c.*363T>A (n.*363T>A) c.1538T>A (p.Phe513Tyr) c.276+16498A>T (n.276+16498A>T) c.*220+6046T>A (n.*220+6046T>A) c.662T>A (p.Phe221Tyr) c.689T>A (p.Phe230Tyr) c.1544T>A (p.Phe515Tyr) c.1358T>A (p.Phe453Tyr) c.1277T>A (p.Phe426Tyr) c.983T>A (p.Phe328Tyr) c.1364T>A (p.Phe455Tyr) | |
2 | g.48688179A>C | CA346745797 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1618T>G (p.Phe540Val) c.948-40T>G (n.948-40T>G) c.3441+16499A>C (n.3441+16499A>C) c.*362T>G (n.*362T>G) c.1537T>G (p.Phe513Val) c.276+16499A>C (n.276+16499A>C) c.*220+6045T>G (n.*220+6045T>G) c.661T>G (p.Phe221Val) c.688T>G (p.Phe230Val) c.1543T>G (p.Phe515Val) c.1357T>G (p.Phe453Val) c.1276T>G (p.Phe426Val) c.982T>G (p.Phe328Val) c.1363T>G (p.Phe455Val) | |
2 | g.48688179A>G | CA346745799 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1618T>C (p.Phe540Leu) c.948-40T>C (n.948-40T>C) c.3441+16499A>G (n.3441+16499A>G) c.*362T>C (n.*362T>C) c.1537T>C (p.Phe513Leu) c.276+16499A>G (n.276+16499A>G) c.*220+6045T>C (n.*220+6045T>C) c.661T>C (p.Phe221Leu) c.688T>C (p.Phe230Leu) c.1543T>C (p.Phe515Leu) c.1357T>C (p.Phe453Leu) c.1276T>C (p.Phe426Leu) c.982T>C (p.Phe328Leu) c.1363T>C (p.Phe455Leu) | |
2 | g.48688179A>T | CA346745803 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1618T>A (p.Phe540Ile) c.948-40T>A (n.948-40T>A) c.3441+16499A>T (n.3441+16499A>T) c.*362T>A (n.*362T>A) c.1537T>A (p.Phe513Ile) c.276+16499A>T (n.276+16499A>T) c.*220+6045T>A (n.*220+6045T>A) c.661T>A (p.Phe221Ile) c.688T>A (p.Phe230Ile) c.1543T>A (p.Phe515Ile) c.1357T>A (p.Phe453Ile) c.1276T>A (p.Phe426Ile) c.982T>A (p.Phe328Ile) c.1363T>A (p.Phe455Ile) | |
2 | g.48688180G>A | CA426125226 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1617C>T (p.Phe539=) c.948-41C>T (n.948-41C>T) c.3441+16500G>A (n.3441+16500G>A) c.*361C>T (n.*361C>T) c.1536C>T (p.Phe512=) c.276+16500G>A (n.276+16500G>A) c.*220+6044C>T (n.*220+6044C>T) c.660C>T (p.Phe220=) c.687C>T (p.Phe229=) c.1542C>T (p.Phe514=) c.1356C>T (p.Phe452=) c.1275C>T (p.Phe425=) c.981C>T (p.Phe327=) c.1362C>T (p.Phe454=) | |
2 | g.48688180G>C | CA346745808 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1617C>G (p.Phe539Leu) c.948-41C>G (n.948-41C>G) c.3441+16500G>C (n.3441+16500G>C) c.*361C>G (n.*361C>G) c.1536C>G (p.Phe512Leu) c.276+16500G>C (n.276+16500G>C) c.*220+6044C>G (n.*220+6044C>G) c.660C>G (p.Phe220Leu) c.687C>G (p.Phe229Leu) c.1542C>G (p.Phe514Leu) c.1356C>G (p.Phe452Leu) c.1275C>G (p.Phe425Leu) c.981C>G (p.Phe327Leu) c.1362C>G (p.Phe454Leu) | |
2 | g.48688180G>T | CA346745811 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1617C>A (p.Phe539Leu) c.948-41C>A (n.948-41C>A) c.3441+16500G>T (n.3441+16500G>T) c.*361C>A (n.*361C>A) c.1536C>A (p.Phe512Leu) c.276+16500G>T (n.276+16500G>T) c.*220+6044C>A (n.*220+6044C>A) c.660C>A (p.Phe220Leu) c.687C>A (p.Phe229Leu) c.1542C>A (p.Phe514Leu) c.1356C>A (p.Phe452Leu) c.1275C>A (p.Phe425Leu) c.981C>A (p.Phe327Leu) c.1362C>A (p.Phe454Leu) | |
2 | g.48688181A= | CA1248601021 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1616T= (p.Phe539=) c.948-42T= (n.948-42T=) c.3441+16501A= (n.3441+16501A=) c.*360T= (n.*360T=) c.1535T= (p.Phe512=) c.276+16501A= (n.276+16501A=) c.*220+6043T= (n.*220+6043T=) c.659T= (p.Phe220=) c.686T= (p.Phe229=) c.1541T= (p.Phe514=) c.1355T= (p.Phe452=) c.1274T= (p.Phe425=) c.980T= (p.Phe327=) c.1361T= (p.Phe454=) | |
2 | g.48688181A>C | CA346745815 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1616T>G (p.Phe539Cys) c.948-42T>G (n.948-42T>G) c.3441+16501A>C (n.3441+16501A>C) c.*360T>G (n.*360T>G) c.1535T>G (p.Phe512Cys) c.276+16501A>C (n.276+16501A>C) c.*220+6043T>G (n.*220+6043T>G) c.659T>G (p.Phe220Cys) c.686T>G (p.Phe229Cys) c.1541T>G (p.Phe514Cys) c.1355T>G (p.Phe452Cys) c.1274T>G (p.Phe425Cys) c.980T>G (p.Phe327Cys) c.1361T>G (p.Phe454Cys) | |
2 | g.48688181A>G | CA346745817 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1616T>C (p.Phe539Ser) c.948-42T>C (n.948-42T>C) c.3441+16501A>G (n.3441+16501A>G) c.*360T>C (n.*360T>C) c.1535T>C (p.Phe512Ser) c.276+16501A>G (n.276+16501A>G) c.*220+6043T>C (n.*220+6043T>C) c.659T>C (p.Phe220Ser) c.686T>C (p.Phe229Ser) c.1541T>C (p.Phe514Ser) c.1355T>C (p.Phe452Ser) c.1274T>C (p.Phe425Ser) c.980T>C (p.Phe327Ser) c.1361T>C (p.Phe454Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688181A>T | CA346745821 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1616T>A (p.Phe539Tyr) c.948-42T>A (n.948-42T>A) c.3441+16501A>T (n.3441+16501A>T) c.*360T>A (n.*360T>A) c.1535T>A (p.Phe512Tyr) c.276+16501A>T (n.276+16501A>T) c.*220+6043T>A (n.*220+6043T>A) c.659T>A (p.Phe220Tyr) c.686T>A (p.Phe229Tyr) c.1541T>A (p.Phe514Tyr) c.1355T>A (p.Phe452Tyr) c.1274T>A (p.Phe425Tyr) c.980T>A (p.Phe327Tyr) c.1361T>A (p.Phe454Tyr) | |
2 | g.48688182A>C | CA346745824 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1615T>G (p.Phe539Val) c.948-43T>G (n.948-43T>G) c.3441+16502A>C (n.3441+16502A>C) c.*359T>G (n.*359T>G) c.1534T>G (p.Phe512Val) c.276+16502A>C (n.276+16502A>C) c.*220+6042T>G (n.*220+6042T>G) c.658T>G (p.Phe220Val) c.685T>G (p.Phe229Val) c.1540T>G (p.Phe514Val) c.1354T>G (p.Phe452Val) c.1273T>G (p.Phe425Val) c.979T>G (p.Phe327Val) c.1360T>G (p.Phe454Val) | |
2 | g.48688182A>G | CA346745832 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1615T>C (p.Phe539Leu) c.948-43T>C (n.948-43T>C) c.3441+16502A>G (n.3441+16502A>G) c.*359T>C (n.*359T>C) c.1534T>C (p.Phe512Leu) c.276+16502A>G (n.276+16502A>G) c.*220+6042T>C (n.*220+6042T>C) c.658T>C (p.Phe220Leu) c.685T>C (p.Phe229Leu) c.1540T>C (p.Phe514Leu) c.1354T>C (p.Phe452Leu) c.1273T>C (p.Phe425Leu) c.979T>C (p.Phe327Leu) c.1360T>C (p.Phe454Leu) | |
2 | g.48688182A>T | CA346745830 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1615T>A (p.Phe539Ile) c.948-43T>A (n.948-43T>A) c.3441+16502A>T (n.3441+16502A>T) c.*359T>A (n.*359T>A) c.1534T>A (p.Phe512Ile) c.276+16502A>T (n.276+16502A>T) c.*220+6042T>A (n.*220+6042T>A) c.658T>A (p.Phe220Ile) c.685T>A (p.Phe229Ile) c.1540T>A (p.Phe514Ile) c.1354T>A (p.Phe452Ile) c.1273T>A (p.Phe425Ile) c.979T>A (p.Phe327Ile) c.1360T>A (p.Phe454Ile) | |
2 | g.48688183G>A | CA426125232 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1614C>T (p.Ala538=) c.948-44C>T (n.948-44C>T) c.3441+16503G>A (n.3441+16503G>A) c.*358C>T (n.*358C>T) c.1533C>T (p.Ala511=) c.276+16503G>A (n.276+16503G>A) c.*220+6041C>T (n.*220+6041C>T) c.657C>T (p.Ala219=) c.684C>T (p.Ala228=) c.1539C>T (p.Ala513=) c.1353C>T (p.Ala451=) c.1272C>T (p.Ala424=) c.978C>T (p.Ala326=) c.1359C>T (p.Ala453=) | |
2 | g.48688183G>C | CA426125231 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1614C>G (p.Ala538=) c.948-44C>G (n.948-44C>G) c.3441+16503G>C (n.3441+16503G>C) c.*358C>G (n.*358C>G) c.1533C>G (p.Ala511=) c.276+16503G>C (n.276+16503G>C) c.*220+6041C>G (n.*220+6041C>G) c.657C>G (p.Ala219=) c.684C>G (p.Ala228=) c.1539C>G (p.Ala513=) c.1353C>G (p.Ala451=) c.1272C>G (p.Ala424=) c.978C>G (p.Ala326=) c.1359C>G (p.Ala453=) | |
2 | g.48688183G>T | CA426125230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1614C>A (p.Ala538=) c.948-44C>A (n.948-44C>A) c.3441+16503G>T (n.3441+16503G>T) c.*358C>A (n.*358C>A) c.1533C>A (p.Ala511=) c.276+16503G>T (n.276+16503G>T) c.*220+6041C>A (n.*220+6041C>A) c.657C>A (p.Ala219=) c.684C>A (p.Ala228=) c.1539C>A (p.Ala513=) c.1353C>A (p.Ala451=) c.1272C>A (p.Ala424=) c.978C>A (p.Ala326=) c.1359C>A (p.Ala453=) | |
2 | g.48688184del | CA2658992083 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1614del (p.Phe539SerfsTer3) c.948-44del (n.948-44del) c.3441+16504del (n.3441+16504del) c.*358del (n.*358del) c.1533del (p.Phe512SerfsTer3) c.276+16504del (n.276+16504del) c.*220+6041del (n.*220+6041del) c.657del (p.Phe220SerfsTer3) c.684del (p.Phe229SerfsTer3) c.1539del (p.Phe514SerfsTer3) c.1353del (p.Phe452SerfsTer3) c.1272del (p.Phe425SerfsTer3) c.978del (p.Phe327SerfsTer3) c.1359del (p.Phe454SerfsTer3) | gnomAD v4 |
2 | g.48688184G>A | CA346745843 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1613C>T (p.Ala538Val) c.948-45C>T (n.948-45C>T) c.3441+16504G>A (n.3441+16504G>A) c.*357C>T (n.*357C>T) c.1532C>T (p.Ala511Val) c.276+16504G>A (n.276+16504G>A) c.*220+6040C>T (n.*220+6040C>T) c.656C>T (p.Ala219Val) c.683C>T (p.Ala228Val) c.1538C>T (p.Ala513Val) c.1352C>T (p.Ala451Val) c.1271C>T (p.Ala424Val) c.977C>T (p.Ala326Val) c.1358C>T (p.Ala453Val) | |
2 | g.48688184G>C | CA346745849 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1613C>G (p.Ala538Gly) c.948-45C>G (n.948-45C>G) c.3441+16504G>C (n.3441+16504G>C) c.*357C>G (n.*357C>G) c.1532C>G (p.Ala511Gly) c.276+16504G>C (n.276+16504G>C) c.*220+6040C>G (n.*220+6040C>G) c.656C>G (p.Ala219Gly) c.683C>G (p.Ala228Gly) c.1538C>G (p.Ala513Gly) c.1352C>G (p.Ala451Gly) c.1271C>G (p.Ala424Gly) c.977C>G (p.Ala326Gly) c.1358C>G (p.Ala453Gly) | |
2 | g.48688184G>T | CA346745857 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1613C>A (p.Ala538Asp) c.948-45C>A (n.948-45C>A) c.3441+16504G>T (n.3441+16504G>T) c.*357C>A (n.*357C>A) c.1532C>A (p.Ala511Asp) c.276+16504G>T (n.276+16504G>T) c.*220+6040C>A (n.*220+6040C>A) c.656C>A (p.Ala219Asp) c.683C>A (p.Ala228Asp) c.1538C>A (p.Ala513Asp) c.1352C>A (p.Ala451Asp) c.1271C>A (p.Ala424Asp) c.977C>A (p.Ala326Asp) c.1358C>A (p.Ala453Asp) | |
2 | g.48688185C>A | CA346745859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1612G>T (p.Ala538Ser) c.948-46G>T (n.948-46G>T) c.3441+16505C>A (n.3441+16505C>A) c.*356G>T (n.*356G>T) c.1531G>T (p.Ala511Ser) c.276+16505C>A (n.276+16505C>A) c.*220+6039G>T (n.*220+6039G>T) c.655G>T (p.Ala219Ser) c.682G>T (p.Ala228Ser) c.1537G>T (p.Ala513Ser) c.1351G>T (p.Ala451Ser) c.1270G>T (p.Ala424Ser) c.976G>T (p.Ala326Ser) c.1357G>T (p.Ala453Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688185C= | CA1248601022 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1612G= (p.Ala538=) c.948-46G= (n.948-46G=) c.3441+16505C= (n.3441+16505C=) c.*356G= (n.*356G=) c.1531G= (p.Ala511=) c.276+16505C= (n.276+16505C=) c.*220+6039G= (n.*220+6039G=) c.655G= (p.Ala219=) c.682G= (p.Ala228=) c.1537G= (p.Ala513=) c.1351G= (p.Ala451=) c.1270G= (p.Ala424=) c.976G= (p.Ala326=) c.1357G= (p.Ala453=) | |
2 | g.48688185C>G | CA346745864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1612G>C (p.Ala538Pro) c.948-46G>C (n.948-46G>C) c.3441+16505C>G (n.3441+16505C>G) c.*356G>C (n.*356G>C) c.1531G>C (p.Ala511Pro) c.276+16505C>G (n.276+16505C>G) c.*220+6039G>C (n.*220+6039G>C) c.655G>C (p.Ala219Pro) c.682G>C (p.Ala228Pro) c.1537G>C (p.Ala513Pro) c.1351G>C (p.Ala451Pro) c.1270G>C (p.Ala424Pro) c.976G>C (p.Ala326Pro) c.1357G>C (p.Ala453Pro) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688185C>T | CA346745866 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1612G>A (p.Ala538Thr) c.948-46G>A (n.948-46G>A) c.3441+16505C>T (n.3441+16505C>T) c.*356G>A (n.*356G>A) c.1531G>A (p.Ala511Thr) c.276+16505C>T (n.276+16505C>T) c.*220+6039G>A (n.*220+6039G>A) c.655G>A (p.Ala219Thr) c.682G>A (p.Ala228Thr) c.1537G>A (p.Ala513Thr) c.1351G>A (p.Ala451Thr) c.1270G>A (p.Ala424Thr) c.976G>A (p.Ala326Thr) c.1357G>A (p.Ala453Thr) | dbSNP gnomAD v4 COSMIC |
2 | g.48688186C>A | CA426125236 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1611G>T (p.Val537=) c.948-47G>T (n.948-47G>T) c.3441+16506C>A (n.3441+16506C>A) c.*355G>T (n.*355G>T) c.1530G>T (p.Val510=) c.276+16506C>A (n.276+16506C>A) c.*220+6038G>T (n.*220+6038G>T) c.654G>T (p.Val218=) c.681G>T (p.Val227=) c.1536G>T (p.Val512=) c.1350G>T (p.Val450=) c.1269G>T (p.Val423=) c.975G>T (p.Val325=) c.1356G>T (p.Val452=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688186C= | CA1248601023 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1611G= (p.Val537=) c.948-47G= (n.948-47G=) c.3441+16506C= (n.3441+16506C=) c.*355G= (n.*355G=) c.1530G= (p.Val510=) c.276+16506C= (n.276+16506C=) c.*220+6038G= (n.*220+6038G=) c.654G= (p.Val218=) c.681G= (p.Val227=) c.1536G= (p.Val512=) c.1350G= (p.Val450=) c.1269G= (p.Val423=) c.975G= (p.Val325=) c.1356G= (p.Val452=) | |
2 | g.48688186C>G | CA426125234 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1611G>C (p.Val537=) c.948-47G>C (n.948-47G>C) c.3441+16506C>G (n.3441+16506C>G) c.*355G>C (n.*355G>C) c.1530G>C (p.Val510=) c.276+16506C>G (n.276+16506C>G) c.*220+6038G>C (n.*220+6038G>C) c.654G>C (p.Val218=) c.681G>C (p.Val227=) c.1536G>C (p.Val512=) c.1350G>C (p.Val450=) c.1269G>C (p.Val423=) c.975G>C (p.Val325=) c.1356G>C (p.Val452=) | |
2 | g.48688186C>T | CA426125233 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1611G>A (p.Val537=) c.948-47G>A (n.948-47G>A) c.3441+16506C>T (n.3441+16506C>T) c.*355G>A (n.*355G>A) c.1530G>A (p.Val510=) c.276+16506C>T (n.276+16506C>T) c.*220+6038G>A (n.*220+6038G>A) c.654G>A (p.Val218=) c.681G>A (p.Val227=) c.1536G>A (p.Val512=) c.1350G>A (p.Val450=) c.1269G>A (p.Val423=) c.975G>A (p.Val325=) c.1356G>A (p.Val452=) | dbSNP |
2 | g.48688187A>C | CA346745870 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1610T>G (p.Val537Gly) c.948-48T>G (n.948-48T>G) c.3441+16507A>C (n.3441+16507A>C) c.*354T>G (n.*354T>G) c.1529T>G (p.Val510Gly) c.276+16507A>C (n.276+16507A>C) c.*220+6037T>G (n.*220+6037T>G) c.653T>G (p.Val218Gly) c.680T>G (p.Val227Gly) c.1535T>G (p.Val512Gly) c.1349T>G (p.Val450Gly) c.1268T>G (p.Val423Gly) c.974T>G (p.Val325Gly) c.1355T>G (p.Val452Gly) | |
2 | g.48688187A>G | CA346745873 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1610T>C (p.Val537Ala) c.948-48T>C (n.948-48T>C) c.3441+16507A>G (n.3441+16507A>G) c.*354T>C (n.*354T>C) c.1529T>C (p.Val510Ala) c.276+16507A>G (n.276+16507A>G) c.*220+6037T>C (n.*220+6037T>C) c.653T>C (p.Val218Ala) c.680T>C (p.Val227Ala) c.1535T>C (p.Val512Ala) c.1349T>C (p.Val450Ala) c.1268T>C (p.Val423Ala) c.974T>C (p.Val325Ala) c.1355T>C (p.Val452Ala) | |
2 | g.48688187A>T | CA346745877 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1610T>A (p.Val537Glu) c.948-48T>A (n.948-48T>A) c.3441+16507A>T (n.3441+16507A>T) c.*354T>A (n.*354T>A) c.1529T>A (p.Val510Glu) c.276+16507A>T (n.276+16507A>T) c.*220+6037T>A (n.*220+6037T>A) c.653T>A (p.Val218Glu) c.680T>A (p.Val227Glu) c.1535T>A (p.Val512Glu) c.1349T>A (p.Val450Glu) c.1268T>A (p.Val423Glu) c.974T>A (p.Val325Glu) c.1355T>A (p.Val452Glu) | |
2 | g.48688188C>A | CA346745884 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1609G>T (p.Val537Leu) c.948-49G>T (n.948-49G>T) c.3441+16508C>A (n.3441+16508C>A) c.*353G>T (n.*353G>T) c.1528G>T (p.Val510Leu) c.276+16508C>A (n.276+16508C>A) c.*220+6036G>T (n.*220+6036G>T) c.652G>T (p.Val218Leu) c.679G>T (p.Val227Leu) c.1534G>T (p.Val512Leu) c.1348G>T (p.Val450Leu) c.1267G>T (p.Val423Leu) c.973G>T (p.Val325Leu) c.1354G>T (p.Val452Leu) | |
2 | g.48688188C= | CA1248601024 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1609G= (p.Val537=) c.948-49G= (n.948-49G=) c.3441+16508C= (n.3441+16508C=) c.*353G= (n.*353G=) c.1528G= (p.Val510=) c.276+16508C= (n.276+16508C=) c.*220+6036G= (n.*220+6036G=) c.652G= (p.Val218=) c.679G= (p.Val227=) c.1534G= (p.Val512=) c.1348G= (p.Val450=) c.1267G= (p.Val423=) c.973G= (p.Val325=) c.1354G= (p.Val452=) | |
2 | g.48688188C>G | CA346745889 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1609G>C (p.Val537Leu) c.948-49G>C (n.948-49G>C) c.3441+16508C>G (n.3441+16508C>G) c.*353G>C (n.*353G>C) c.1528G>C (p.Val510Leu) c.276+16508C>G (n.276+16508C>G) c.*220+6036G>C (n.*220+6036G>C) c.652G>C (p.Val218Leu) c.679G>C (p.Val227Leu) c.1534G>C (p.Val512Leu) c.1348G>C (p.Val450Leu) c.1267G>C (p.Val423Leu) c.973G>C (p.Val325Leu) c.1354G>C (p.Val452Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688188C>T | CA1653011 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1609G>A (p.Val537Met) c.948-49G>A (n.948-49G>A) c.3441+16508C>T (n.3441+16508C>T) c.*353G>A (n.*353G>A) c.1528G>A (p.Val510Met) c.276+16508C>T (n.276+16508C>T) c.*220+6036G>A (n.*220+6036G>A) c.652G>A (p.Val218Met) c.679G>A (p.Val227Met) c.1534G>A (p.Val512Met) c.1348G>A (p.Val450Met) c.1267G>A (p.Val423Met) c.973G>A (p.Val325Met) c.1354G>A (p.Val452Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688189C>A | CA426125247 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1608G>T (p.Val536=) c.948-50G>T (n.948-50G>T) c.3441+16509C>A (n.3441+16509C>A) c.*352G>T (n.*352G>T) c.1527G>T (p.Val509=) c.276+16509C>A (n.276+16509C>A) c.*220+6035G>T (n.*220+6035G>T) c.651G>T (p.Val217=) c.678G>T (p.Val226=) c.1533G>T (p.Val511=) c.1347G>T (p.Val449=) c.1266G>T (p.Val422=) c.972G>T (p.Val324=) c.1353G>T (p.Val451=) | gnomAD v4 |
2 | g.48688189C= | CA1248601025 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1608G= (p.Val536=) c.948-50G= (n.948-50G=) c.3441+16509C= (n.3441+16509C=) c.*352G= (n.*352G=) c.1527G= (p.Val509=) c.276+16509C= (n.276+16509C=) c.*220+6035G= (n.*220+6035G=) c.651G= (p.Val217=) c.678G= (p.Val226=) c.1533G= (p.Val511=) c.1347G= (p.Val449=) c.1266G= (p.Val422=) c.972G= (p.Val324=) c.1353G= (p.Val451=) | |
2 | g.48688189C>G | CA426125251 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1608G>C (p.Val536=) c.948-50G>C (n.948-50G>C) c.3441+16509C>G (n.3441+16509C>G) c.*352G>C (n.*352G>C) c.1527G>C (p.Val509=) c.276+16509C>G (n.276+16509C>G) c.*220+6035G>C (n.*220+6035G>C) c.651G>C (p.Val217=) c.678G>C (p.Val226=) c.1533G>C (p.Val511=) c.1347G>C (p.Val449=) c.1266G>C (p.Val422=) c.972G>C (p.Val324=) c.1353G>C (p.Val451=) | |
2 | g.48688189C>T | CA46752892 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1608G>A (p.Val536=) c.948-50G>A (n.948-50G>A) c.3441+16509C>T (n.3441+16509C>T) c.*352G>A (n.*352G>A) c.1527G>A (p.Val509=) c.276+16509C>T (n.276+16509C>T) c.*220+6035G>A (n.*220+6035G>A) c.651G>A (p.Val217=) c.678G>A (p.Val226=) c.1533G>A (p.Val511=) c.1347G>A (p.Val449=) c.1266G>A (p.Val422=) c.972G>A (p.Val324=) c.1353G>A (p.Val451=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688190A>C | CA346745900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1607T>G (p.Val536Gly) c.948-51T>G (n.948-51T>G) c.3441+16510A>C (n.3441+16510A>C) c.*351T>G (n.*351T>G) c.1526T>G (p.Val509Gly) c.276+16510A>C (n.276+16510A>C) c.*220+6034T>G (n.*220+6034T>G) c.650T>G (p.Val217Gly) c.677T>G (p.Val226Gly) c.1532T>G (p.Val511Gly) c.1346T>G (p.Val449Gly) c.1265T>G (p.Val422Gly) c.971T>G (p.Val324Gly) c.1352T>G (p.Val451Gly) | |
2 | g.48688190A>G | CA346745901 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1607T>C (p.Val536Ala) c.948-51T>C (n.948-51T>C) c.3441+16510A>G (n.3441+16510A>G) c.*351T>C (n.*351T>C) c.1526T>C (p.Val509Ala) c.276+16510A>G (n.276+16510A>G) c.*220+6034T>C (n.*220+6034T>C) c.650T>C (p.Val217Ala) c.677T>C (p.Val226Ala) c.1532T>C (p.Val511Ala) c.1346T>C (p.Val449Ala) c.1265T>C (p.Val422Ala) c.971T>C (p.Val324Ala) c.1352T>C (p.Val451Ala) | |
2 | g.48688190A>T | CA346745902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1607T>A (p.Val536Glu) c.948-51T>A (n.948-51T>A) c.3441+16510A>T (n.3441+16510A>T) c.*351T>A (n.*351T>A) c.1526T>A (p.Val509Glu) c.276+16510A>T (n.276+16510A>T) c.*220+6034T>A (n.*220+6034T>A) c.650T>A (p.Val217Glu) c.677T>A (p.Val226Glu) c.1532T>A (p.Val511Glu) c.1346T>A (p.Val449Glu) c.1265T>A (p.Val422Glu) c.971T>A (p.Val324Glu) c.1352T>A (p.Val451Glu) | |
2 | g.48688191C>A | CA346745903 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1606G>T (p.Val536Leu) c.948-52G>T (n.948-52G>T) c.3441+16511C>A (n.3441+16511C>A) c.*350G>T (n.*350G>T) c.1525G>T (p.Val509Leu) c.276+16511C>A (n.276+16511C>A) c.*220+6033G>T (n.*220+6033G>T) c.649G>T (p.Val217Leu) c.676G>T (p.Val226Leu) c.1531G>T (p.Val511Leu) c.1345G>T (p.Val449Leu) c.1264G>T (p.Val422Leu) c.970G>T (p.Val324Leu) c.1351G>T (p.Val451Leu) | |
2 | g.48688191C>G | CA346745904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1606G>C (p.Val536Leu) c.948-52G>C (n.948-52G>C) c.3441+16511C>G (n.3441+16511C>G) c.*350G>C (n.*350G>C) c.1525G>C (p.Val509Leu) c.276+16511C>G (n.276+16511C>G) c.*220+6033G>C (n.*220+6033G>C) c.649G>C (p.Val217Leu) c.676G>C (p.Val226Leu) c.1531G>C (p.Val511Leu) c.1345G>C (p.Val449Leu) c.1264G>C (p.Val422Leu) c.970G>C (p.Val324Leu) c.1351G>C (p.Val451Leu) | |
2 | g.48688191C>T | CA346745905 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1606G>A (p.Val536Met) c.948-52G>A (n.948-52G>A) c.3441+16511C>T (n.3441+16511C>T) c.*350G>A (n.*350G>A) c.1525G>A (p.Val509Met) c.276+16511C>T (n.276+16511C>T) c.*220+6033G>A (n.*220+6033G>A) c.649G>A (p.Val217Met) c.676G>A (p.Val226Met) c.1531G>A (p.Val511Met) c.1345G>A (p.Val449Met) c.1264G>A (p.Val422Met) c.970G>A (p.Val324Met) c.1351G>A (p.Val451Met) | gnomAD v4 |
2 | g.48688191_48688192delinsCA | CA1248601026 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605_1606delinsTG (p.Asn535=) c.948-53_948-52delinsTG (n.948-53_948-52delinsTG) c.3441+16511_3441+16512delinsCA (n.3441+16511_3441+16512delinsCA) c.*349_*350delinsTG (n.*349_*350delinsTG) c.1524_1525delinsTG (p.Asn508=) c.276+16511_276+16512delinsCA (n.276+16511_276+16512delinsCA) c.*220+6032_*220+6033delinsTG (n.*220+6032_*220+6033delinsTG) c.648_649delinsTG (p.Asn216=) c.675_676delinsTG (p.Asn225=) c.1530_1531delinsTG (p.Asn510=) c.1344_1345delinsTG (p.Asn448=) c.1263_1264delinsTG (p.Asn421=) c.969_970delinsTG (p.Asn323=) c.1350_1351delinsTG (p.Asn450=) | |
2 | g.48688192del | CA532706165 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605del (p.Asn535LysfsTer7) c.948-53del (n.948-53del) c.3441+16512del (n.3441+16512del) c.*349del (n.*349del) c.1524del (p.Asn508LysfsTer7) c.276+16512del (n.276+16512del) c.*220+6032del (n.*220+6032del) c.648del (p.Asn216LysfsTer7) c.675del (p.Asn225LysfsTer7) c.1530del (p.Asn510LysfsTer7) c.1344del (p.Asn448LysfsTer7) c.1263del (p.Asn421LysfsTer7) c.969del (p.Asn323LysfsTer7) c.1350del (p.Asn450LysfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688192A= | CA1248601027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605T= (p.Asn535=) c.948-53T= (n.948-53T=) c.3441+16512A= (n.3441+16512A=) c.*349T= (n.*349T=) c.1524T= (p.Asn508=) c.276+16512A= (n.276+16512A=) c.*220+6032T= (n.*220+6032T=) c.648T= (p.Asn216=) c.675T= (p.Asn225=) c.1530T= (p.Asn510=) c.1344T= (p.Asn448=) c.1263T= (p.Asn421=) c.969T= (p.Asn323=) c.1350T= (p.Asn450=) | |
2 | g.48688192A>C | CA346745906 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605T>G (p.Asn535Lys) c.948-53T>G (n.948-53T>G) c.3441+16512A>C (n.3441+16512A>C) c.*349T>G (n.*349T>G) c.1524T>G (p.Asn508Lys) c.276+16512A>C (n.276+16512A>C) c.*220+6032T>G (n.*220+6032T>G) c.648T>G (p.Asn216Lys) c.675T>G (p.Asn225Lys) c.1530T>G (p.Asn510Lys) c.1344T>G (p.Asn448Lys) c.1263T>G (p.Asn421Lys) c.969T>G (p.Asn323Lys) c.1350T>G (p.Asn450Lys) | dbSNP |
2 | g.48688192A>G | CA426125255 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605T>C (p.Asn535=) c.948-53T>C (n.948-53T>C) c.3441+16512A>G (n.3441+16512A>G) c.*349T>C (n.*349T>C) c.1524T>C (p.Asn508=) c.276+16512A>G (n.276+16512A>G) c.*220+6032T>C (n.*220+6032T>C) c.648T>C (p.Asn216=) c.675T>C (p.Asn225=) c.1530T>C (p.Asn510=) c.1344T>C (p.Asn448=) c.1263T>C (p.Asn421=) c.969T>C (p.Asn323=) c.1350T>C (p.Asn450=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688192A>T | CA346745907 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1605T>A (p.Asn535Lys) c.948-53T>A (n.948-53T>A) c.3441+16512A>T (n.3441+16512A>T) c.*349T>A (n.*349T>A) c.1524T>A (p.Asn508Lys) c.276+16512A>T (n.276+16512A>T) c.*220+6032T>A (n.*220+6032T>A) c.648T>A (p.Asn216Lys) c.675T>A (p.Asn225Lys) c.1530T>A (p.Asn510Lys) c.1344T>A (p.Asn448Lys) c.1263T>A (p.Asn421Lys) c.969T>A (p.Asn323Lys) c.1350T>A (p.Asn450Lys) | |
2 | g.48688193T>A | CA346745909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1604A>T (p.Asn535Ile) c.948-54A>T (n.948-54A>T) c.3441+16513T>A (n.3441+16513T>A) c.*348A>T (n.*348A>T) c.1523A>T (p.Asn508Ile) c.276+16513T>A (n.276+16513T>A) c.*220+6031A>T (n.*220+6031A>T) c.647A>T (p.Asn216Ile) c.674A>T (p.Asn225Ile) c.1529A>T (p.Asn510Ile) c.1343A>T (p.Asn448Ile) c.1262A>T (p.Asn421Ile) c.968A>T (p.Asn323Ile) c.1349A>T (p.Asn450Ile) | |
2 | g.48688193T>C | CA346745916 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1604A>G (p.Asn535Ser) c.948-54A>G (n.948-54A>G) c.3441+16513T>C (n.3441+16513T>C) c.*348A>G (n.*348A>G) c.1523A>G (p.Asn508Ser) c.276+16513T>C (n.276+16513T>C) c.*220+6031A>G (n.*220+6031A>G) c.647A>G (p.Asn216Ser) c.674A>G (p.Asn225Ser) c.1529A>G (p.Asn510Ser) c.1343A>G (p.Asn448Ser) c.1262A>G (p.Asn421Ser) c.968A>G (p.Asn323Ser) c.1349A>G (p.Asn450Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688193T>G | CA346745918 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1604A>C (p.Asn535Thr) c.948-54A>C (n.948-54A>C) c.3441+16513T>G (n.3441+16513T>G) c.*348A>C (n.*348A>C) c.1523A>C (p.Asn508Thr) c.276+16513T>G (n.276+16513T>G) c.*220+6031A>C (n.*220+6031A>C) c.647A>C (p.Asn216Thr) c.674A>C (p.Asn225Thr) c.1529A>C (p.Asn510Thr) c.1343A>C (p.Asn448Thr) c.1262A>C (p.Asn421Thr) c.968A>C (p.Asn323Thr) c.1349A>C (p.Asn450Thr) | |
2 | g.48688193T= | CA1248601028 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1604A= (p.Asn535=) c.948-54A= (n.948-54A=) c.3441+16513T= (n.3441+16513T=) c.*348A= (n.*348A=) c.1523A= (p.Asn508=) c.276+16513T= (n.276+16513T=) c.*220+6031A= (n.*220+6031A=) c.647A= (p.Asn216=) c.674A= (p.Asn225=) c.1529A= (p.Asn510=) c.1343A= (p.Asn448=) c.1262A= (p.Asn421=) c.968A= (p.Asn323=) c.1349A= (p.Asn450=) | |
2 | g.48688194T>A | CA346745924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1603A>T (p.Asn535Tyr) c.948-55A>T (n.948-55A>T) c.3441+16514T>A (n.3441+16514T>A) c.*347A>T (n.*347A>T) c.1522A>T (p.Asn508Tyr) c.276+16514T>A (n.276+16514T>A) c.*220+6030A>T (n.*220+6030A>T) c.646A>T (p.Asn216Tyr) c.673A>T (p.Asn225Tyr) c.1528A>T (p.Asn510Tyr) c.1342A>T (p.Asn448Tyr) c.1261A>T (p.Asn421Tyr) c.967A>T (p.Asn323Tyr) c.1348A>T (p.Asn450Tyr) | |
2 | g.48688194T>C | CA346745922 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1603A>G (p.Asn535Asp) c.948-55A>G (n.948-55A>G) c.3441+16514T>C (n.3441+16514T>C) c.*347A>G (n.*347A>G) c.1522A>G (p.Asn508Asp) c.276+16514T>C (n.276+16514T>C) c.*220+6030A>G (n.*220+6030A>G) c.646A>G (p.Asn216Asp) c.673A>G (p.Asn225Asp) c.1528A>G (p.Asn510Asp) c.1342A>G (p.Asn448Asp) c.1261A>G (p.Asn421Asp) c.967A>G (p.Asn323Asp) c.1348A>G (p.Asn450Asp) | |
2 | g.48688194T>G | CA346745920 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1603A>C (p.Asn535His) c.948-55A>C (n.948-55A>C) c.3441+16514T>G (n.3441+16514T>G) c.*347A>C (n.*347A>C) c.1522A>C (p.Asn508His) c.276+16514T>G (n.276+16514T>G) c.*220+6030A>C (n.*220+6030A>C) c.646A>C (p.Asn216His) c.673A>C (p.Asn225His) c.1528A>C (p.Asn510His) c.1342A>C (p.Asn448His) c.1261A>C (p.Asn421His) c.967A>C (p.Asn323His) c.1348A>C (p.Asn450His) | gnomAD v4 |
2 | g.48688195G>A | CA426125262 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1602C>T (p.Leu534=) c.948-56C>T (n.948-56C>T) c.3441+16515G>A (n.3441+16515G>A) c.*346C>T (n.*346C>T) c.1521C>T (p.Leu507=) c.276+16515G>A (n.276+16515G>A) c.*220+6029C>T (n.*220+6029C>T) c.645C>T (p.Leu215=) c.672C>T (p.Leu224=) c.1527C>T (p.Leu509=) c.1341C>T (p.Leu447=) c.1260C>T (p.Leu420=) c.966C>T (p.Leu322=) c.1347C>T (p.Leu449=) | |
2 | g.48688195G>C | CA426125267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1602C>G (p.Leu534=) c.948-56C>G (n.948-56C>G) c.3441+16515G>C (n.3441+16515G>C) c.*346C>G (n.*346C>G) c.1521C>G (p.Leu507=) c.276+16515G>C (n.276+16515G>C) c.*220+6029C>G (n.*220+6029C>G) c.645C>G (p.Leu215=) c.672C>G (p.Leu224=) c.1527C>G (p.Leu509=) c.1341C>G (p.Leu447=) c.1260C>G (p.Leu420=) c.966C>G (p.Leu322=) c.1347C>G (p.Leu449=) | |
2 | g.48688195G>T | CA426125270 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1602C>A (p.Leu534=) c.948-56C>A (n.948-56C>A) c.3441+16515G>T (n.3441+16515G>T) c.*346C>A (n.*346C>A) c.1521C>A (p.Leu507=) c.276+16515G>T (n.276+16515G>T) c.*220+6029C>A (n.*220+6029C>A) c.645C>A (p.Leu215=) c.672C>A (p.Leu224=) c.1527C>A (p.Leu509=) c.1341C>A (p.Leu447=) c.1260C>A (p.Leu420=) c.966C>A (p.Leu322=) c.1347C>A (p.Leu449=) | |
2 | g.48688196A>C | CA346745926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1601T>G (p.Leu534Arg) c.948-57T>G (n.948-57T>G) c.3441+16516A>C (n.3441+16516A>C) c.*345T>G (n.*345T>G) c.1520T>G (p.Leu507Arg) c.276+16516A>C (n.276+16516A>C) c.*220+6028T>G (n.*220+6028T>G) c.644T>G (p.Leu215Arg) c.671T>G (p.Leu224Arg) c.1526T>G (p.Leu509Arg) c.1340T>G (p.Leu447Arg) c.1259T>G (p.Leu420Arg) c.965T>G (p.Leu322Arg) c.1346T>G (p.Leu449Arg) | |
2 | g.48688196A>G | CA346745928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1601T>C (p.Leu534Pro) c.948-57T>C (n.948-57T>C) c.3441+16516A>G (n.3441+16516A>G) c.*345T>C (n.*345T>C) c.1520T>C (p.Leu507Pro) c.276+16516A>G (n.276+16516A>G) c.*220+6028T>C (n.*220+6028T>C) c.644T>C (p.Leu215Pro) c.671T>C (p.Leu224Pro) c.1526T>C (p.Leu509Pro) c.1340T>C (p.Leu447Pro) c.1259T>C (p.Leu420Pro) c.965T>C (p.Leu322Pro) c.1346T>C (p.Leu449Pro) | |
2 | g.48688196A>T | CA346745933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1601T>A (p.Leu534His) c.948-57T>A (n.948-57T>A) c.3441+16516A>T (n.3441+16516A>T) c.*345T>A (n.*345T>A) c.1520T>A (p.Leu507His) c.276+16516A>T (n.276+16516A>T) c.*220+6028T>A (n.*220+6028T>A) c.644T>A (p.Leu215His) c.671T>A (p.Leu224His) c.1526T>A (p.Leu509His) c.1340T>A (p.Leu447His) c.1259T>A (p.Leu420His) c.965T>A (p.Leu322His) c.1346T>A (p.Leu449His) | |
2 | g.48688197G>A | CA1653012 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1600C>T (p.Leu534Phe) c.948-58C>T (n.948-58C>T) c.3441+16517G>A (n.3441+16517G>A) c.*344C>T (n.*344C>T) c.1519C>T (p.Leu507Phe) c.276+16517G>A (n.276+16517G>A) c.*220+6027C>T (n.*220+6027C>T) c.643C>T (p.Leu215Phe) c.670C>T (p.Leu224Phe) c.1525C>T (p.Leu509Phe) c.1339C>T (p.Leu447Phe) c.1258C>T (p.Leu420Phe) c.964C>T (p.Leu322Phe) c.1345C>T (p.Leu449Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688197G>C | CA346745936 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1600C>G (p.Leu534Val) c.948-58C>G (n.948-58C>G) c.3441+16517G>C (n.3441+16517G>C) c.*344C>G (n.*344C>G) c.1519C>G (p.Leu507Val) c.276+16517G>C (n.276+16517G>C) c.*220+6027C>G (n.*220+6027C>G) c.643C>G (p.Leu215Val) c.670C>G (p.Leu224Val) c.1525C>G (p.Leu509Val) c.1339C>G (p.Leu447Val) c.1258C>G (p.Leu420Val) c.964C>G (p.Leu322Val) c.1345C>G (p.Leu449Val) | |
2 | g.48688197G= | CA1248601029 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1600C= (p.Leu534=) c.948-58C= (n.948-58C=) c.3441+16517G= (n.3441+16517G=) c.*344C= (n.*344C=) c.1519C= (p.Leu507=) c.276+16517G= (n.276+16517G=) c.*220+6027C= (n.*220+6027C=) c.643C= (p.Leu215=) c.670C= (p.Leu224=) c.1525C= (p.Leu509=) c.1339C= (p.Leu447=) c.1258C= (p.Leu420=) c.964C= (p.Leu322=) c.1345C= (p.Leu449=) | |
2 | g.48688197G>T | CA346745937 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1600C>A (p.Leu534Ile) c.948-58C>A (n.948-58C>A) c.3441+16517G>T (n.3441+16517G>T) c.*344C>A (n.*344C>A) c.1519C>A (p.Leu507Ile) c.276+16517G>T (n.276+16517G>T) c.*220+6027C>A (n.*220+6027C>A) c.643C>A (p.Leu215Ile) c.670C>A (p.Leu224Ile) c.1525C>A (p.Leu509Ile) c.1339C>A (p.Leu447Ile) c.1258C>A (p.Leu420Ile) c.964C>A (p.Leu322Ile) c.1345C>A (p.Leu449Ile) | |
2 | g.48688198A>C | CA346745938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1599T>G (p.Ile533Met) c.948-59T>G (n.948-59T>G) c.3441+16518A>C (n.3441+16518A>C) c.*343T>G (n.*343T>G) c.1518T>G (p.Ile506Met) c.276+16518A>C (n.276+16518A>C) c.*220+6026T>G (n.*220+6026T>G) c.642T>G (p.Ile214Met) c.669T>G (p.Ile223Met) c.1524T>G (p.Ile508Met) c.1338T>G (p.Ile446Met) c.1257T>G (p.Ile419Met) c.963T>G (p.Ile321Met) c.1344T>G (p.Ile448Met) | |
2 | g.48688198A>G | CA426125277 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1599T>C (p.Ile533=) c.948-59T>C (n.948-59T>C) c.3441+16518A>G (n.3441+16518A>G) c.*343T>C (n.*343T>C) c.1518T>C (p.Ile506=) c.276+16518A>G (n.276+16518A>G) c.*220+6026T>C (n.*220+6026T>C) c.642T>C (p.Ile214=) c.669T>C (p.Ile223=) c.1524T>C (p.Ile508=) c.1338T>C (p.Ile446=) c.1257T>C (p.Ile419=) c.963T>C (p.Ile321=) c.1344T>C (p.Ile448=) | |
2 | g.48688198A>T | CA426125279 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1599T>A (p.Ile533=) c.948-59T>A (n.948-59T>A) c.3441+16518A>T (n.3441+16518A>T) c.*343T>A (n.*343T>A) c.1518T>A (p.Ile506=) c.276+16518A>T (n.276+16518A>T) c.*220+6026T>A (n.*220+6026T>A) c.642T>A (p.Ile214=) c.669T>A (p.Ile223=) c.1524T>A (p.Ile508=) c.1338T>A (p.Ile446=) c.1257T>A (p.Ile419=) c.963T>A (p.Ile321=) c.1344T>A (p.Ile448=) | |
2 | g.48688199A>C | CA346745940 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1598T>G (p.Ile533Ser) c.948-60T>G (n.948-60T>G) c.3441+16519A>C (n.3441+16519A>C) c.*342T>G (n.*342T>G) c.1517T>G (p.Ile506Ser) c.276+16519A>C (n.276+16519A>C) c.*220+6025T>G (n.*220+6025T>G) c.641T>G (p.Ile214Ser) c.668T>G (p.Ile223Ser) c.1523T>G (p.Ile508Ser) c.1337T>G (p.Ile446Ser) c.1256T>G (p.Ile419Ser) c.962T>G (p.Ile321Ser) c.1343T>G (p.Ile448Ser) | |
2 | g.48688199A>G | CA346745942 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1598T>C (p.Ile533Thr) c.948-60T>C (n.948-60T>C) c.3441+16519A>G (n.3441+16519A>G) c.*342T>C (n.*342T>C) c.1517T>C (p.Ile506Thr) c.276+16519A>G (n.276+16519A>G) c.*220+6025T>C (n.*220+6025T>C) c.641T>C (p.Ile214Thr) c.668T>C (p.Ile223Thr) c.1523T>C (p.Ile508Thr) c.1337T>C (p.Ile446Thr) c.1256T>C (p.Ile419Thr) c.962T>C (p.Ile321Thr) c.1343T>C (p.Ile448Thr) | |
2 | g.48688199A>T | CA346745945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1598T>A (p.Ile533Asn) c.948-60T>A (n.948-60T>A) c.3441+16519A>T (n.3441+16519A>T) c.*342T>A (n.*342T>A) c.1517T>A (p.Ile506Asn) c.276+16519A>T (n.276+16519A>T) c.*220+6025T>A (n.*220+6025T>A) c.641T>A (p.Ile214Asn) c.668T>A (p.Ile223Asn) c.1523T>A (p.Ile508Asn) c.1337T>A (p.Ile446Asn) c.1256T>A (p.Ile419Asn) c.962T>A (p.Ile321Asn) c.1343T>A (p.Ile448Asn) | |
2 | g.48688200T>A | CA346745950 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1597A>T (p.Ile533Phe) c.948-61A>T (n.948-61A>T) c.3441+16520T>A (n.3441+16520T>A) c.*341A>T (n.*341A>T) c.1516A>T (p.Ile506Phe) c.276+16520T>A (n.276+16520T>A) c.*220+6024A>T (n.*220+6024A>T) c.640A>T (p.Ile214Phe) c.667A>T (p.Ile223Phe) c.1522A>T (p.Ile508Phe) c.1336A>T (p.Ile446Phe) c.1255A>T (p.Ile419Phe) c.961A>T (p.Ile321Phe) c.1342A>T (p.Ile448Phe) | |
2 | g.48688200T>C | CA346745965 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1597A>G (p.Ile533Val) c.948-61A>G (n.948-61A>G) c.3441+16520T>C (n.3441+16520T>C) c.*341A>G (n.*341A>G) c.1516A>G (p.Ile506Val) c.276+16520T>C (n.276+16520T>C) c.*220+6024A>G (n.*220+6024A>G) c.640A>G (p.Ile214Val) c.667A>G (p.Ile223Val) c.1522A>G (p.Ile508Val) c.1336A>G (p.Ile446Val) c.1255A>G (p.Ile419Val) c.961A>G (p.Ile321Val) c.1342A>G (p.Ile448Val) | |
2 | g.48688200T>G | CA346745975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1597A>C (p.Ile533Leu) c.948-61A>C (n.948-61A>C) c.3441+16520T>G (n.3441+16520T>G) c.*341A>C (n.*341A>C) c.1516A>C (p.Ile506Leu) c.276+16520T>G (n.276+16520T>G) c.*220+6024A>C (n.*220+6024A>C) c.640A>C (p.Ile214Leu) c.667A>C (p.Ile223Leu) c.1522A>C (p.Ile508Leu) c.1336A>C (p.Ile446Leu) c.1255A>C (p.Ile419Leu) c.961A>C (p.Ile321Leu) c.1342A>C (p.Ile448Leu) | |
2 | g.48688201C>A | CA426125288 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1596G>T (p.Leu532=) c.948-62G>T (n.948-62G>T) c.3441+16521C>A (n.3441+16521C>A) c.*340G>T (n.*340G>T) c.1515G>T (p.Leu505=) c.276+16521C>A (n.276+16521C>A) c.*220+6023G>T (n.*220+6023G>T) c.639G>T (p.Leu213=) c.666G>T (p.Leu222=) c.1521G>T (p.Leu507=) c.1335G>T (p.Leu445=) c.1254G>T (p.Leu418=) c.960G>T (p.Leu320=) c.1341G>T (p.Leu447=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688201C= | CA1248601030 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1596G= (p.Leu532=) c.948-62G= (n.948-62G=) c.3441+16521C= (n.3441+16521C=) c.*340G= (n.*340G=) c.1515G= (p.Leu505=) c.276+16521C= (n.276+16521C=) c.*220+6023G= (n.*220+6023G=) c.639G= (p.Leu213=) c.666G= (p.Leu222=) c.1521G= (p.Leu507=) c.1335G= (p.Leu445=) c.1254G= (p.Leu418=) c.960G= (p.Leu320=) c.1341G= (p.Leu447=) | |
2 | g.48688201C>G | CA426125290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1596G>C (p.Leu532=) c.948-62G>C (n.948-62G>C) c.3441+16521C>G (n.3441+16521C>G) c.*340G>C (n.*340G>C) c.1515G>C (p.Leu505=) c.276+16521C>G (n.276+16521C>G) c.*220+6023G>C (n.*220+6023G>C) c.639G>C (p.Leu213=) c.666G>C (p.Leu222=) c.1521G>C (p.Leu507=) c.1335G>C (p.Leu445=) c.1254G>C (p.Leu418=) c.960G>C (p.Leu320=) c.1341G>C (p.Leu447=) | |
2 | g.48688201C>T | CA426125292 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1596G>A (p.Leu532=) c.948-62G>A (n.948-62G>A) c.3441+16521C>T (n.3441+16521C>T) c.*340G>A (n.*340G>A) c.1515G>A (p.Leu505=) c.276+16521C>T (n.276+16521C>T) c.*220+6023G>A (n.*220+6023G>A) c.639G>A (p.Leu213=) c.666G>A (p.Leu222=) c.1521G>A (p.Leu507=) c.1335G>A (p.Leu445=) c.1254G>A (p.Leu418=) c.960G>A (p.Leu320=) c.1341G>A (p.Leu447=) | |
2 | g.48688202A>C | CA346745987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1595T>G (p.Leu532Arg) c.948-63T>G (n.948-63T>G) c.3441+16522A>C (n.3441+16522A>C) c.*339T>G (n.*339T>G) c.1514T>G (p.Leu505Arg) c.276+16522A>C (n.276+16522A>C) c.*220+6022T>G (n.*220+6022T>G) c.638T>G (p.Leu213Arg) c.665T>G (p.Leu222Arg) c.1520T>G (p.Leu507Arg) c.1334T>G (p.Leu445Arg) c.1253T>G (p.Leu418Arg) c.959T>G (p.Leu320Arg) c.1340T>G (p.Leu447Arg) | |
2 | g.48688202A>G | CA346745988 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1595T>C (p.Leu532Pro) c.948-63T>C (n.948-63T>C) c.3441+16522A>G (n.3441+16522A>G) c.*339T>C (n.*339T>C) c.1514T>C (p.Leu505Pro) c.276+16522A>G (n.276+16522A>G) c.*220+6022T>C (n.*220+6022T>C) c.638T>C (p.Leu213Pro) c.665T>C (p.Leu222Pro) c.1520T>C (p.Leu507Pro) c.1334T>C (p.Leu445Pro) c.1253T>C (p.Leu418Pro) c.959T>C (p.Leu320Pro) c.1340T>C (p.Leu447Pro) | gnomAD v4 |
2 | g.48688202A>T | CA346745984 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1595T>A (p.Leu532Gln) c.948-63T>A (n.948-63T>A) c.3441+16522A>T (n.3441+16522A>T) c.*339T>A (n.*339T>A) c.1514T>A (p.Leu505Gln) c.276+16522A>T (n.276+16522A>T) c.*220+6022T>A (n.*220+6022T>A) c.638T>A (p.Leu213Gln) c.665T>A (p.Leu222Gln) c.1520T>A (p.Leu507Gln) c.1334T>A (p.Leu445Gln) c.1253T>A (p.Leu418Gln) c.959T>A (p.Leu320Gln) c.1340T>A (p.Leu447Gln) | |
2 | g.48688203G>A | CA426125299 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1594C>T (p.Leu532=) c.948-64C>T (n.948-64C>T) c.3441+16523G>A (n.3441+16523G>A) c.*338C>T (n.*338C>T) c.1513C>T (p.Leu505=) c.276+16523G>A (n.276+16523G>A) c.*220+6021C>T (n.*220+6021C>T) c.637C>T (p.Leu213=) c.664C>T (p.Leu222=) c.1519C>T (p.Leu507=) c.1333C>T (p.Leu445=) c.1252C>T (p.Leu418=) c.958C>T (p.Leu320=) c.1339C>T (p.Leu447=) | gnomAD v4 |
2 | g.48688203G>C | CA346745990 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1594C>G (p.Leu532Val) c.948-64C>G (n.948-64C>G) c.3441+16523G>C (n.3441+16523G>C) c.*338C>G (n.*338C>G) c.1513C>G (p.Leu505Val) c.276+16523G>C (n.276+16523G>C) c.*220+6021C>G (n.*220+6021C>G) c.637C>G (p.Leu213Val) c.664C>G (p.Leu222Val) c.1519C>G (p.Leu507Val) c.1333C>G (p.Leu445Val) c.1252C>G (p.Leu418Val) c.958C>G (p.Leu320Val) c.1339C>G (p.Leu447Val) | |
2 | g.48688203G>T | CA346745992 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1594C>A (p.Leu532Met) c.948-64C>A (n.948-64C>A) c.3441+16523G>T (n.3441+16523G>T) c.*338C>A (n.*338C>A) c.1513C>A (p.Leu505Met) c.276+16523G>T (n.276+16523G>T) c.*220+6021C>A (n.*220+6021C>A) c.637C>A (p.Leu213Met) c.664C>A (p.Leu222Met) c.1519C>A (p.Leu507Met) c.1333C>A (p.Leu445Met) c.1252C>A (p.Leu418Met) c.958C>A (p.Leu320Met) c.1339C>A (p.Leu447Met) | |
2 | g.48688204G>A | CA426125304 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1593C>T (p.Ile531=) c.948-65C>T (n.948-65C>T) c.3441+16524G>A (n.3441+16524G>A) c.*337C>T (n.*337C>T) c.1512C>T (p.Ile504=) c.276+16524G>A (n.276+16524G>A) c.*220+6020C>T (n.*220+6020C>T) c.636C>T (p.Ile212=) c.663C>T (p.Ile221=) c.1518C>T (p.Ile506=) c.1332C>T (p.Ile444=) c.1251C>T (p.Ile417=) c.957C>T (p.Ile319=) c.1338C>T (p.Ile446=) | gnomAD v4 |
2 | g.48688204G>C | CA346746000 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1593C>G (p.Ile531Met) c.948-65C>G (n.948-65C>G) c.3441+16524G>C (n.3441+16524G>C) c.*337C>G (n.*337C>G) c.1512C>G (p.Ile504Met) c.276+16524G>C (n.276+16524G>C) c.*220+6020C>G (n.*220+6020C>G) c.636C>G (p.Ile212Met) c.663C>G (p.Ile221Met) c.1518C>G (p.Ile506Met) c.1332C>G (p.Ile444Met) c.1251C>G (p.Ile417Met) c.957C>G (p.Ile319Met) c.1338C>G (p.Ile446Met) | |
2 | g.48688204G>T | CA426125303 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1593C>A (p.Ile531=) c.948-65C>A (n.948-65C>A) c.3441+16524G>T (n.3441+16524G>T) c.*337C>A (n.*337C>A) c.1512C>A (p.Ile504=) c.276+16524G>T (n.276+16524G>T) c.*220+6020C>A (n.*220+6020C>A) c.636C>A (p.Ile212=) c.663C>A (p.Ile221=) c.1518C>A (p.Ile506=) c.1332C>A (p.Ile444=) c.1251C>A (p.Ile417=) c.957C>A (p.Ile319=) c.1338C>A (p.Ile446=) | |
2 | g.48688205A>C | CA346746003 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1592T>G (p.Ile531Ser) c.948-66T>G (n.948-66T>G) c.3441+16525A>C (n.3441+16525A>C) c.*336T>G (n.*336T>G) c.1511T>G (p.Ile504Ser) c.276+16525A>C (n.276+16525A>C) c.*220+6019T>G (n.*220+6019T>G) c.635T>G (p.Ile212Ser) c.662T>G (p.Ile221Ser) c.1517T>G (p.Ile506Ser) c.1331T>G (p.Ile444Ser) c.1250T>G (p.Ile417Ser) c.956T>G (p.Ile319Ser) c.1337T>G (p.Ile446Ser) | |
2 | g.48688205A>G | CA346746004 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1592T>C (p.Ile531Thr) c.948-66T>C (n.948-66T>C) c.3441+16525A>G (n.3441+16525A>G) c.*336T>C (n.*336T>C) c.1511T>C (p.Ile504Thr) c.276+16525A>G (n.276+16525A>G) c.*220+6019T>C (n.*220+6019T>C) c.635T>C (p.Ile212Thr) c.662T>C (p.Ile221Thr) c.1517T>C (p.Ile506Thr) c.1331T>C (p.Ile444Thr) c.1250T>C (p.Ile417Thr) c.956T>C (p.Ile319Thr) c.1337T>C (p.Ile446Thr) | |
2 | g.48688205A>T | CA346746005 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1592T>A (p.Ile531Asn) c.948-66T>A (n.948-66T>A) c.3441+16525A>T (n.3441+16525A>T) c.*336T>A (n.*336T>A) c.1511T>A (p.Ile504Asn) c.276+16525A>T (n.276+16525A>T) c.*220+6019T>A (n.*220+6019T>A) c.635T>A (p.Ile212Asn) c.662T>A (p.Ile221Asn) c.1517T>A (p.Ile506Asn) c.1331T>A (p.Ile444Asn) c.1250T>A (p.Ile417Asn) c.956T>A (p.Ile319Asn) c.1337T>A (p.Ile446Asn) | |
2 | g.48688206T>A | CA346746006 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1591A>T (p.Ile531Phe) c.948-67A>T (n.948-67A>T) c.3441+16526T>A (n.3441+16526T>A) c.*335A>T (n.*335A>T) c.1510A>T (p.Ile504Phe) c.276+16526T>A (n.276+16526T>A) c.*220+6018A>T (n.*220+6018A>T) c.634A>T (p.Ile212Phe) c.661A>T (p.Ile221Phe) c.1516A>T (p.Ile506Phe) c.1330A>T (p.Ile444Phe) c.1249A>T (p.Ile417Phe) c.955A>T (p.Ile319Phe) c.1336A>T (p.Ile446Phe) | |
2 | g.48688206T>C | CA346746008 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1591A>G (p.Ile531Val) c.948-67A>G (n.948-67A>G) c.3441+16526T>C (n.3441+16526T>C) c.*335A>G (n.*335A>G) c.1510A>G (p.Ile504Val) c.276+16526T>C (n.276+16526T>C) c.*220+6018A>G (n.*220+6018A>G) c.634A>G (p.Ile212Val) c.661A>G (p.Ile221Val) c.1516A>G (p.Ile506Val) c.1330A>G (p.Ile444Val) c.1249A>G (p.Ile417Val) c.955A>G (p.Ile319Val) c.1336A>G (p.Ile446Val) | dbSNP |
2 | g.48688206T>G | CA346746009 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1591A>C (p.Ile531Leu) c.948-67A>C (n.948-67A>C) c.3441+16526T>G (n.3441+16526T>G) c.*335A>C (n.*335A>C) c.1510A>C (p.Ile504Leu) c.276+16526T>G (n.276+16526T>G) c.*220+6018A>C (n.*220+6018A>C) c.634A>C (p.Ile212Leu) c.661A>C (p.Ile221Leu) c.1516A>C (p.Ile506Leu) c.1330A>C (p.Ile444Leu) c.1249A>C (p.Ile417Leu) c.955A>C (p.Ile319Leu) c.1336A>C (p.Ile446Leu) | |
2 | g.48688206T= | CA1248601031 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1591A= (p.Ile531=) c.948-67A= (n.948-67A=) c.3441+16526T= (n.3441+16526T=) c.*335A= (n.*335A=) c.1510A= (p.Ile504=) c.276+16526T= (n.276+16526T=) c.*220+6018A= (n.*220+6018A=) c.634A= (p.Ile212=) c.661A= (p.Ile221=) c.1516A= (p.Ile506=) c.1330A= (p.Ile444=) c.1249A= (p.Ile417=) c.955A= (p.Ile319=) c.1336A= (p.Ile446=) | |
2 | g.48688207G>A | CA426125307 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1590C>T (p.Thr530=) c.948-68C>T (n.948-68C>T) c.3441+16527G>A (n.3441+16527G>A) c.*334C>T (n.*334C>T) c.1509C>T (p.Thr503=) c.276+16527G>A (n.276+16527G>A) c.*220+6017C>T (n.*220+6017C>T) c.633C>T (p.Thr211=) c.660C>T (p.Thr220=) c.1515C>T (p.Thr505=) c.1329C>T (p.Thr443=) c.1248C>T (p.Thr416=) c.954C>T (p.Thr318=) c.1335C>T (p.Thr445=) | |
2 | g.48688207G>C | CA426125309 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1590C>G (p.Thr530=) c.948-68C>G (n.948-68C>G) c.3441+16527G>C (n.3441+16527G>C) c.*334C>G (n.*334C>G) c.1509C>G (p.Thr503=) c.276+16527G>C (n.276+16527G>C) c.*220+6017C>G (n.*220+6017C>G) c.633C>G (p.Thr211=) c.660C>G (p.Thr220=) c.1515C>G (p.Thr505=) c.1329C>G (p.Thr443=) c.1248C>G (p.Thr416=) c.954C>G (p.Thr318=) c.1335C>G (p.Thr445=) | |
2 | g.48688207G= | CA1248601032 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1590C= (p.Thr530=) c.948-68C= (n.948-68C=) c.3441+16527G= (n.3441+16527G=) c.*334C= (n.*334C=) c.1509C= (p.Thr503=) c.276+16527G= (n.276+16527G=) c.*220+6017C= (n.*220+6017C=) c.633C= (p.Thr211=) c.660C= (p.Thr220=) c.1515C= (p.Thr505=) c.1329C= (p.Thr443=) c.1248C= (p.Thr416=) c.954C= (p.Thr318=) c.1335C= (p.Thr445=) | |
2 | g.48688207G>T | CA426125310 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1590C>A (p.Thr530=) c.948-68C>A (n.948-68C>A) c.3441+16527G>T (n.3441+16527G>T) c.*334C>A (n.*334C>A) c.1509C>A (p.Thr503=) c.276+16527G>T (n.276+16527G>T) c.*220+6017C>A (n.*220+6017C>A) c.633C>A (p.Thr211=) c.660C>A (p.Thr220=) c.1515C>A (p.Thr505=) c.1329C>A (p.Thr443=) c.1248C>A (p.Thr416=) c.954C>A (p.Thr318=) c.1335C>A (p.Thr445=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688208G>A | CA1653013 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1589C>T (p.Thr530Ile) c.948-69C>T (n.948-69C>T) c.3441+16528G>A (n.3441+16528G>A) c.*333C>T (n.*333C>T) c.1508C>T (p.Thr503Ile) c.276+16528G>A (n.276+16528G>A) c.*220+6016C>T (n.*220+6016C>T) c.632C>T (p.Thr211Ile) c.659C>T (p.Thr220Ile) c.1514C>T (p.Thr505Ile) c.1328C>T (p.Thr443Ile) c.1247C>T (p.Thr416Ile) c.953C>T (p.Thr318Ile) c.1334C>T (p.Thr445Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688208G>C | CA346746019 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1589C>G (p.Thr530Ser) c.948-69C>G (n.948-69C>G) c.3441+16528G>C (n.3441+16528G>C) c.*333C>G (n.*333C>G) c.1508C>G (p.Thr503Ser) c.276+16528G>C (n.276+16528G>C) c.*220+6016C>G (n.*220+6016C>G) c.632C>G (p.Thr211Ser) c.659C>G (p.Thr220Ser) c.1514C>G (p.Thr505Ser) c.1328C>G (p.Thr443Ser) c.1247C>G (p.Thr416Ser) c.953C>G (p.Thr318Ser) c.1334C>G (p.Thr445Ser) | |
2 | g.48688208G= | CA1248601033 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1589C= (p.Thr530=) c.948-69C= (n.948-69C=) c.3441+16528G= (n.3441+16528G=) c.*333C= (n.*333C=) c.1508C= (p.Thr503=) c.276+16528G= (n.276+16528G=) c.*220+6016C= (n.*220+6016C=) c.632C= (p.Thr211=) c.659C= (p.Thr220=) c.1514C= (p.Thr505=) c.1328C= (p.Thr443=) c.1247C= (p.Thr416=) c.953C= (p.Thr318=) c.1334C= (p.Thr445=) | |
2 | g.48688208G>T | CA346746021 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1589C>A (p.Thr530Asn) c.948-69C>A (n.948-69C>A) c.3441+16528G>T (n.3441+16528G>T) c.*333C>A (n.*333C>A) c.1508C>A (p.Thr503Asn) c.276+16528G>T (n.276+16528G>T) c.*220+6016C>A (n.*220+6016C>A) c.632C>A (p.Thr211Asn) c.659C>A (p.Thr220Asn) c.1514C>A (p.Thr505Asn) c.1328C>A (p.Thr443Asn) c.1247C>A (p.Thr416Asn) c.953C>A (p.Thr318Asn) c.1334C>A (p.Thr445Asn) | |
2 | g.48688209T>A | CA346746034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1588A>T (p.Thr530Ser) c.948-70A>T (n.948-70A>T) c.3441+16529T>A (n.3441+16529T>A) c.*332A>T (n.*332A>T) c.1507A>T (p.Thr503Ser) c.276+16529T>A (n.276+16529T>A) c.*220+6015A>T (n.*220+6015A>T) c.631A>T (p.Thr211Ser) c.658A>T (p.Thr220Ser) c.1513A>T (p.Thr505Ser) c.1327A>T (p.Thr443Ser) c.1246A>T (p.Thr416Ser) c.952A>T (p.Thr318Ser) c.1333A>T (p.Thr445Ser) | |
2 | g.48688209T>C | CA346746027 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1588A>G (p.Thr530Ala) c.948-70A>G (n.948-70A>G) c.3441+16529T>C (n.3441+16529T>C) c.*332A>G (n.*332A>G) c.1507A>G (p.Thr503Ala) c.276+16529T>C (n.276+16529T>C) c.*220+6015A>G (n.*220+6015A>G) c.631A>G (p.Thr211Ala) c.658A>G (p.Thr220Ala) c.1513A>G (p.Thr505Ala) c.1327A>G (p.Thr443Ala) c.1246A>G (p.Thr416Ala) c.952A>G (p.Thr318Ala) c.1333A>G (p.Thr445Ala) | |
2 | g.48688209T>G | CA46752898 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1588A>C (p.Thr530Pro) c.948-70A>C (n.948-70A>C) c.3441+16529T>G (n.3441+16529T>G) c.*332A>C (n.*332A>C) c.1507A>C (p.Thr503Pro) c.276+16529T>G (n.276+16529T>G) c.*220+6015A>C (n.*220+6015A>C) c.631A>C (p.Thr211Pro) c.658A>C (p.Thr220Pro) c.1513A>C (p.Thr505Pro) c.1327A>C (p.Thr443Pro) c.1246A>C (p.Thr416Pro) c.952A>C (p.Thr318Pro) c.1333A>C (p.Thr445Pro) | dbSNP COSMIC |
2 | g.48688209T= | CA1248601034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1588A= (p.Thr530=) c.948-70A= (n.948-70A=) c.3441+16529T= (n.3441+16529T=) c.*332A= (n.*332A=) c.1507A= (p.Thr503=) c.276+16529T= (n.276+16529T=) c.*220+6015A= (n.*220+6015A=) c.631A= (p.Thr211=) c.658A= (p.Thr220=) c.1513A= (p.Thr505=) c.1327A= (p.Thr443=) c.1246A= (p.Thr416=) c.952A= (p.Thr318=) c.1333A= (p.Thr445=) | |
2 | g.48688210T>A | CA346746035 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1587A>T (p.Leu529Phe) c.948-71A>T (n.948-71A>T) c.3441+16530T>A (n.3441+16530T>A) c.*331A>T (n.*331A>T) c.1506A>T (p.Leu502Phe) c.276+16530T>A (n.276+16530T>A) c.*220+6014A>T (n.*220+6014A>T) c.630A>T (p.Leu210Phe) c.657A>T (p.Leu219Phe) c.1512A>T (p.Leu504Phe) c.1326A>T (p.Leu442Phe) c.1245A>T (p.Leu415Phe) c.951A>T (p.Leu317Phe) c.1332A>T (p.Leu444Phe) | |
2 | g.48688210T>C | CA426125318 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1587A>G (p.Leu529=) c.948-71A>G (n.948-71A>G) c.3441+16530T>C (n.3441+16530T>C) c.*331A>G (n.*331A>G) c.1506A>G (p.Leu502=) c.276+16530T>C (n.276+16530T>C) c.*220+6014A>G (n.*220+6014A>G) c.630A>G (p.Leu210=) c.657A>G (p.Leu219=) c.1512A>G (p.Leu504=) c.1326A>G (p.Leu442=) c.1245A>G (p.Leu415=) c.951A>G (p.Leu317=) c.1332A>G (p.Leu444=) | COSMIC |
2 | g.48688210T>G | CA346746041 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1587A>C (p.Leu529Phe) c.948-71A>C (n.948-71A>C) c.3441+16530T>G (n.3441+16530T>G) c.*331A>C (n.*331A>C) c.1506A>C (p.Leu502Phe) c.276+16530T>G (n.276+16530T>G) c.*220+6014A>C (n.*220+6014A>C) c.630A>C (p.Leu210Phe) c.657A>C (p.Leu219Phe) c.1512A>C (p.Leu504Phe) c.1326A>C (p.Leu442Phe) c.1245A>C (p.Leu415Phe) c.951A>C (p.Leu317Phe) c.1332A>C (p.Leu444Phe) | |
2 | g.48688211A>C | CA346746044 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1586T>G (p.Leu529Ter) c.948-72T>G (n.948-72T>G) c.3441+16531A>C (n.3441+16531A>C) c.*330T>G (n.*330T>G) c.1505T>G (p.Leu502Ter) c.276+16531A>C (n.276+16531A>C) c.*220+6013T>G (n.*220+6013T>G) c.629T>G (p.Leu210Ter) c.656T>G (p.Leu219Ter) c.1511T>G (p.Leu504Ter) c.1325T>G (p.Leu442Ter) c.1244T>G (p.Leu415Ter) c.950T>G (p.Leu317Ter) c.1331T>G (p.Leu444Ter) | |
2 | g.48688211A>G | CA346746048 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1586T>C (p.Leu529Ser) c.948-72T>C (n.948-72T>C) c.3441+16531A>G (n.3441+16531A>G) c.*330T>C (n.*330T>C) c.1505T>C (p.Leu502Ser) c.276+16531A>G (n.276+16531A>G) c.*220+6013T>C (n.*220+6013T>C) c.629T>C (p.Leu210Ser) c.656T>C (p.Leu219Ser) c.1511T>C (p.Leu504Ser) c.1325T>C (p.Leu442Ser) c.1244T>C (p.Leu415Ser) c.950T>C (p.Leu317Ser) c.1331T>C (p.Leu444Ser) | |
2 | g.48688211A>T | CA346746051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1586T>A (p.Leu529Ter) c.948-72T>A (n.948-72T>A) c.3441+16531A>T (n.3441+16531A>T) c.*330T>A (n.*330T>A) c.1505T>A (p.Leu502Ter) c.276+16531A>T (n.276+16531A>T) c.*220+6013T>A (n.*220+6013T>A) c.629T>A (p.Leu210Ter) c.656T>A (p.Leu219Ter) c.1511T>A (p.Leu504Ter) c.1325T>A (p.Leu442Ter) c.1244T>A (p.Leu415Ter) c.950T>A (p.Leu317Ter) c.1331T>A (p.Leu444Ter) | |
2 | g.48688212A>C | CA346746053 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1585T>G (p.Leu529Val) c.948-73T>G (n.948-73T>G) c.3441+16532A>C (n.3441+16532A>C) c.*329T>G (n.*329T>G) c.1504T>G (p.Leu502Val) c.276+16532A>C (n.276+16532A>C) c.*220+6012T>G (n.*220+6012T>G) c.628T>G (p.Leu210Val) c.655T>G (p.Leu219Val) c.1510T>G (p.Leu504Val) c.1324T>G (p.Leu442Val) c.1243T>G (p.Leu415Val) c.949T>G (p.Leu317Val) c.1330T>G (p.Leu444Val) | |
2 | g.48688212A>G | CA426125324 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1585T>C (p.Leu529=) c.948-73T>C (n.948-73T>C) c.3441+16532A>G (n.3441+16532A>G) c.*329T>C (n.*329T>C) c.1504T>C (p.Leu502=) c.276+16532A>G (n.276+16532A>G) c.*220+6012T>C (n.*220+6012T>C) c.628T>C (p.Leu210=) c.655T>C (p.Leu219=) c.1510T>C (p.Leu504=) c.1324T>C (p.Leu442=) c.1243T>C (p.Leu415=) c.949T>C (p.Leu317=) c.1330T>C (p.Leu444=) | |
2 | g.48688212A>T | CA346746060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1585T>A (p.Leu529Ile) c.948-73T>A (n.948-73T>A) c.3441+16532A>T (n.3441+16532A>T) c.*329T>A (n.*329T>A) c.1504T>A (p.Leu502Ile) c.276+16532A>T (n.276+16532A>T) c.*220+6012T>A (n.*220+6012T>A) c.628T>A (p.Leu210Ile) c.655T>A (p.Leu219Ile) c.1510T>A (p.Leu504Ile) c.1324T>A (p.Leu442Ile) c.1243T>A (p.Leu415Ile) c.949T>A (p.Leu317Ile) c.1330T>A (p.Leu444Ile) | |
2 | g.48688212_48688213insCA | CA2576963412 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1585_1586insGT (p.Leu529CysfsTer2) c.948-73_948-72insGT (n.948-73_948-72insGT) c.3441+16532_3441+16533insCA (n.3441+16532_3441+16533insCA) c.*329_*330insGT (n.*329_*330insGT) c.1504_1505insGT (p.Leu502CysfsTer2) c.276+16532_276+16533insCA (n.276+16532_276+16533insCA) c.*220+6012_*220+6013insGT (n.*220+6012_*220+6013insGT) c.628_629insGT (p.Leu210CysfsTer2) c.655_656insGT (p.Leu219CysfsTer2) c.1510_1511insGT (p.Leu504CysfsTer2) c.1324_1325insGT (p.Leu442CysfsTer2) c.1243_1244insGT (p.Leu415CysfsTer2) c.949_950insGT (p.Leu317CysfsTer2) c.1330_1331insGT (p.Leu444CysfsTer2) | |
2 | g.48688215_48688218del | CA2586969306 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1582_1585del (p.Ile528Ter) c.948-76_948-73del (n.948-76_948-73del) c.3441+16535_3441+16538del (n.3441+16535_3441+16538del) c.*326_*329del (n.*326_*329del) c.1501_1504del (p.Ile501Ter) c.276+16535_276+16538del (n.276+16535_276+16538del) c.*220+6009_*220+6012del (n.*220+6009_*220+6012del) c.625_628del (p.Ile209Ter) c.652_655del (p.Ile218Ter) c.1507_1510del (p.Ile503Ter) c.1321_1324del (p.Ile441Ter) c.1240_1243del (p.Ile414Ter) c.946_949del (p.Ile316Ter) c.1327_1330del (p.Ile443Ter) | |
2 | g.48688213T>A | CA426125328 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1584A>T (p.Ile528=) c.948-74A>T (n.948-74A>T) c.3441+16533T>A (n.3441+16533T>A) c.*328A>T (n.*328A>T) c.1503A>T (p.Ile501=) c.276+16533T>A (n.276+16533T>A) c.*220+6011A>T (n.*220+6011A>T) c.627A>T (p.Ile209=) c.654A>T (p.Ile218=) c.1509A>T (p.Ile503=) c.1323A>T (p.Ile441=) c.1242A>T (p.Ile414=) c.948A>T (p.Ile316=) c.1329A>T (p.Ile443=) | |
2 | g.48688213T>C | CA346746062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1584A>G (p.Ile528Met) c.948-74A>G (n.948-74A>G) c.3441+16533T>C (n.3441+16533T>C) c.*328A>G (n.*328A>G) c.1503A>G (p.Ile501Met) c.276+16533T>C (n.276+16533T>C) c.*220+6011A>G (n.*220+6011A>G) c.627A>G (p.Ile209Met) c.654A>G (p.Ile218Met) c.1509A>G (p.Ile503Met) c.1323A>G (p.Ile441Met) c.1242A>G (p.Ile414Met) c.948A>G (p.Ile316Met) c.1329A>G (p.Ile443Met) | |
2 | g.48688213T>G | CA426125329 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1584A>C (p.Ile528=) c.948-74A>C (n.948-74A>C) c.3441+16533T>G (n.3441+16533T>G) c.*328A>C (n.*328A>C) c.1503A>C (p.Ile501=) c.276+16533T>G (n.276+16533T>G) c.*220+6011A>C (n.*220+6011A>C) c.627A>C (p.Ile209=) c.654A>C (p.Ile218=) c.1509A>C (p.Ile503=) c.1323A>C (p.Ile441=) c.1242A>C (p.Ile414=) c.948A>C (p.Ile316=) c.1329A>C (p.Ile443=) | |
2 | g.48688214A>C | CA346746066 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1583T>G (p.Ile528Arg) c.948-75T>G (n.948-75T>G) c.3441+16534A>C (n.3441+16534A>C) c.*327T>G (n.*327T>G) c.1502T>G (p.Ile501Arg) c.276+16534A>C (n.276+16534A>C) c.*220+6010T>G (n.*220+6010T>G) c.626T>G (p.Ile209Arg) c.653T>G (p.Ile218Arg) c.1508T>G (p.Ile503Arg) c.1322T>G (p.Ile441Arg) c.1241T>G (p.Ile414Arg) c.947T>G (p.Ile316Arg) c.1328T>G (p.Ile443Arg) | |
2 | g.48688214A>G | CA346746073 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1583T>C (p.Ile528Thr) c.948-75T>C (n.948-75T>C) c.3441+16534A>G (n.3441+16534A>G) c.*327T>C (n.*327T>C) c.1502T>C (p.Ile501Thr) c.276+16534A>G (n.276+16534A>G) c.*220+6010T>C (n.*220+6010T>C) c.626T>C (p.Ile209Thr) c.653T>C (p.Ile218Thr) c.1508T>C (p.Ile503Thr) c.1322T>C (p.Ile441Thr) c.1241T>C (p.Ile414Thr) c.947T>C (p.Ile316Thr) c.1328T>C (p.Ile443Thr) | COSMIC |
2 | g.48688214A>T | CA346746074 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1583T>A (p.Ile528Lys) c.948-75T>A (n.948-75T>A) c.3441+16534A>T (n.3441+16534A>T) c.*327T>A (n.*327T>A) c.1502T>A (p.Ile501Lys) c.276+16534A>T (n.276+16534A>T) c.*220+6010T>A (n.*220+6010T>A) c.626T>A (p.Ile209Lys) c.653T>A (p.Ile218Lys) c.1508T>A (p.Ile503Lys) c.1322T>A (p.Ile441Lys) c.1241T>A (p.Ile414Lys) c.947T>A (p.Ile316Lys) c.1328T>A (p.Ile443Lys) | |
2 | g.48688215T>A | CA346746078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1582A>T (p.Ile528Leu) c.948-76A>T (n.948-76A>T) c.3441+16535T>A (n.3441+16535T>A) c.*326A>T (n.*326A>T) c.1501A>T (p.Ile501Leu) c.276+16535T>A (n.276+16535T>A) c.*220+6009A>T (n.*220+6009A>T) c.625A>T (p.Ile209Leu) c.652A>T (p.Ile218Leu) c.1507A>T (p.Ile503Leu) c.1321A>T (p.Ile441Leu) c.1240A>T (p.Ile414Leu) c.946A>T (p.Ile316Leu) c.1327A>T (p.Ile443Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688215T>C | CA346746080 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1582A>G (p.Ile528Val) c.948-76A>G (n.948-76A>G) c.3441+16535T>C (n.3441+16535T>C) c.*326A>G (n.*326A>G) c.1501A>G (p.Ile501Val) c.276+16535T>C (n.276+16535T>C) c.*220+6009A>G (n.*220+6009A>G) c.625A>G (p.Ile209Val) c.652A>G (p.Ile218Val) c.1507A>G (p.Ile503Val) c.1321A>G (p.Ile441Val) c.1240A>G (p.Ile414Val) c.946A>G (p.Ile316Val) c.1327A>G (p.Ile443Val) | gnomAD v4 |
2 | g.48688215T>G | CA346746085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1582A>C (p.Ile528Leu) c.948-76A>C (n.948-76A>C) c.3441+16535T>G (n.3441+16535T>G) c.*326A>C (n.*326A>C) c.1501A>C (p.Ile501Leu) c.276+16535T>G (n.276+16535T>G) c.*220+6009A>C (n.*220+6009A>C) c.625A>C (p.Ile209Leu) c.652A>C (p.Ile218Leu) c.1507A>C (p.Ile503Leu) c.1321A>C (p.Ile441Leu) c.1240A>C (p.Ile414Leu) c.946A>C (p.Ile316Leu) c.1327A>C (p.Ile443Leu) | |
2 | g.48688215T= | CA1248601035 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1582A= (p.Ile528=) c.948-76A= (n.948-76A=) c.3441+16535T= (n.3441+16535T=) c.*326A= (n.*326A=) c.1501A= (p.Ile501=) c.276+16535T= (n.276+16535T=) c.*220+6009A= (n.*220+6009A=) c.625A= (p.Ile209=) c.652A= (p.Ile218=) c.1507A= (p.Ile503=) c.1321A= (p.Ile441=) c.1240A= (p.Ile414=) c.946A= (p.Ile316=) c.1327A= (p.Ile443=) | |
2 | g.48688216A= | CA1248601036 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1581T= (p.Tyr527=) c.948-77T= (n.948-77T=) c.3441+16536A= (n.3441+16536A=) c.*325T= (n.*325T=) c.1500T= (p.Tyr500=) c.276+16536A= (n.276+16536A=) c.*220+6008T= (n.*220+6008T=) c.624T= (p.Tyr208=) c.651T= (p.Tyr217=) c.1506T= (p.Tyr502=) c.1320T= (p.Tyr440=) c.1239T= (p.Tyr413=) c.945T= (p.Tyr315=) c.1326T= (p.Tyr442=) | |
2 | g.48688216A>C | CA346746096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1581T>G (p.Tyr527Ter) c.948-77T>G (n.948-77T>G) c.3441+16536A>C (n.3441+16536A>C) c.*325T>G (n.*325T>G) c.1500T>G (p.Tyr500Ter) c.276+16536A>C (n.276+16536A>C) c.*220+6008T>G (n.*220+6008T>G) c.624T>G (p.Tyr208Ter) c.651T>G (p.Tyr217Ter) c.1506T>G (p.Tyr502Ter) c.1320T>G (p.Tyr440Ter) c.1239T>G (p.Tyr413Ter) c.945T>G (p.Tyr315Ter) c.1326T>G (p.Tyr442Ter) | |
2 | g.48688216A>G | CA1653014 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1581T>C (p.Tyr527=) c.948-77T>C (n.948-77T>C) c.3441+16536A>G (n.3441+16536A>G) c.*325T>C (n.*325T>C) c.1500T>C (p.Tyr500=) c.276+16536A>G (n.276+16536A>G) c.*220+6008T>C (n.*220+6008T>C) c.624T>C (p.Tyr208=) c.651T>C (p.Tyr217=) c.1506T>C (p.Tyr502=) c.1320T>C (p.Tyr440=) c.1239T>C (p.Tyr413=) c.945T>C (p.Tyr315=) c.1326T>C (p.Tyr442=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688216A>T | CA346746086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1581T>A (p.Tyr527Ter) c.948-77T>A (n.948-77T>A) c.3441+16536A>T (n.3441+16536A>T) c.*325T>A (n.*325T>A) c.1500T>A (p.Tyr500Ter) c.276+16536A>T (n.276+16536A>T) c.*220+6008T>A (n.*220+6008T>A) c.624T>A (p.Tyr208Ter) c.651T>A (p.Tyr217Ter) c.1506T>A (p.Tyr502Ter) c.1320T>A (p.Tyr440Ter) c.1239T>A (p.Tyr413Ter) c.945T>A (p.Tyr315Ter) c.1326T>A (p.Tyr442Ter) | |
2 | g.48688217T>A | CA346746097 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1580A>T (p.Tyr527Phe) c.948-78A>T (n.948-78A>T) c.3441+16537T>A (n.3441+16537T>A) c.*324A>T (n.*324A>T) c.1499A>T (p.Tyr500Phe) c.276+16537T>A (n.276+16537T>A) c.*220+6007A>T (n.*220+6007A>T) c.623A>T (p.Tyr208Phe) c.650A>T (p.Tyr217Phe) c.1505A>T (p.Tyr502Phe) c.1319A>T (p.Tyr440Phe) c.1238A>T (p.Tyr413Phe) c.944A>T (p.Tyr315Phe) c.1325A>T (p.Tyr442Phe) | |
2 | g.48688217T>C | CA1653015 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1580A>G (p.Tyr527Cys) c.948-78A>G (n.948-78A>G) c.3441+16537T>C (n.3441+16537T>C) c.*324A>G (n.*324A>G) c.1499A>G (p.Tyr500Cys) c.276+16537T>C (n.276+16537T>C) c.*220+6007A>G (n.*220+6007A>G) c.623A>G (p.Tyr208Cys) c.650A>G (p.Tyr217Cys) c.1505A>G (p.Tyr502Cys) c.1319A>G (p.Tyr440Cys) c.1238A>G (p.Tyr413Cys) c.944A>G (p.Tyr315Cys) c.1325A>G (p.Tyr442Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688217T>G | CA346746100 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1580A>C (p.Tyr527Ser) c.948-78A>C (n.948-78A>C) c.3441+16537T>G (n.3441+16537T>G) c.*324A>C (n.*324A>C) c.1499A>C (p.Tyr500Ser) c.276+16537T>G (n.276+16537T>G) c.*220+6007A>C (n.*220+6007A>C) c.623A>C (p.Tyr208Ser) c.650A>C (p.Tyr217Ser) c.1505A>C (p.Tyr502Ser) c.1319A>C (p.Tyr440Ser) c.1238A>C (p.Tyr413Ser) c.944A>C (p.Tyr315Ser) c.1325A>C (p.Tyr442Ser) | |
2 | g.48688217T= | CA1248601037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1580A= (p.Tyr527=) c.948-78A= (n.948-78A=) c.3441+16537T= (n.3441+16537T=) c.*324A= (n.*324A=) c.1499A= (p.Tyr500=) c.276+16537T= (n.276+16537T=) c.*220+6007A= (n.*220+6007A=) c.623A= (p.Tyr208=) c.650A= (p.Tyr217=) c.1505A= (p.Tyr502=) c.1319A= (p.Tyr440=) c.1238A= (p.Tyr413=) c.944A= (p.Tyr315=) c.1325A= (p.Tyr442=) | |
2 | g.48688218A>C | CA346746104 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1579T>G (p.Tyr527Asp) c.948-79T>G (n.948-79T>G) c.3441+16538A>C (n.3441+16538A>C) c.*323T>G (n.*323T>G) c.1498T>G (p.Tyr500Asp) c.276+16538A>C (n.276+16538A>C) c.*220+6006T>G (n.*220+6006T>G) c.622T>G (p.Tyr208Asp) c.649T>G (p.Tyr217Asp) c.1504T>G (p.Tyr502Asp) c.1318T>G (p.Tyr440Asp) c.1237T>G (p.Tyr413Asp) c.943T>G (p.Tyr315Asp) c.1324T>G (p.Tyr442Asp) | |
2 | g.48688218A>G | CA346746111 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1579T>C (p.Tyr527His) c.948-79T>C (n.948-79T>C) c.3441+16538A>G (n.3441+16538A>G) c.*323T>C (n.*323T>C) c.1498T>C (p.Tyr500His) c.276+16538A>G (n.276+16538A>G) c.*220+6006T>C (n.*220+6006T>C) c.622T>C (p.Tyr208His) c.649T>C (p.Tyr217His) c.1504T>C (p.Tyr502His) c.1318T>C (p.Tyr440His) c.1237T>C (p.Tyr413His) c.943T>C (p.Tyr315His) c.1324T>C (p.Tyr442His) | |
2 | g.48688218A>T | CA346746114 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1579T>A (p.Tyr527Asn) c.948-79T>A (n.948-79T>A) c.3441+16538A>T (n.3441+16538A>T) c.*323T>A (n.*323T>A) c.1498T>A (p.Tyr500Asn) c.276+16538A>T (n.276+16538A>T) c.*220+6006T>A (n.*220+6006T>A) c.622T>A (p.Tyr208Asn) c.649T>A (p.Tyr217Asn) c.1504T>A (p.Tyr502Asn) c.1318T>A (p.Tyr440Asn) c.1237T>A (p.Tyr413Asn) c.943T>A (p.Tyr315Asn) c.1324T>A (p.Tyr442Asn) | gnomAD v4 |
2 | g.48688219G>A | CA426125345 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1578C>T (p.Val526=) c.948-80C>T (n.948-80C>T) c.3441+16539G>A (n.3441+16539G>A) c.*322C>T (n.*322C>T) c.1497C>T (p.Val499=) c.276+16539G>A (n.276+16539G>A) c.*220+6005C>T (n.*220+6005C>T) c.621C>T (p.Val207=) c.648C>T (p.Val216=) c.1503C>T (p.Val501=) c.1317C>T (p.Val439=) c.1236C>T (p.Val412=) c.942C>T (p.Val314=) c.1323C>T (p.Val441=) | |
2 | g.48688219G>C | CA426125348 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1578C>G (p.Val526=) c.948-80C>G (n.948-80C>G) c.3441+16539G>C (n.3441+16539G>C) c.*322C>G (n.*322C>G) c.1497C>G (p.Val499=) c.276+16539G>C (n.276+16539G>C) c.*220+6005C>G (n.*220+6005C>G) c.621C>G (p.Val207=) c.648C>G (p.Val216=) c.1503C>G (p.Val501=) c.1317C>G (p.Val439=) c.1236C>G (p.Val412=) c.942C>G (p.Val314=) c.1323C>G (p.Val441=) | |
2 | g.48688219G>T | CA426125352 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1578C>A (p.Val526=) c.948-80C>A (n.948-80C>A) c.3441+16539G>T (n.3441+16539G>T) c.*322C>A (n.*322C>A) c.1497C>A (p.Val499=) c.276+16539G>T (n.276+16539G>T) c.*220+6005C>A (n.*220+6005C>A) c.621C>A (p.Val207=) c.648C>A (p.Val216=) c.1503C>A (p.Val501=) c.1317C>A (p.Val439=) c.1236C>A (p.Val412=) c.942C>A (p.Val314=) c.1323C>A (p.Val441=) | |
2 | g.48688220A>C | CA346746120 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1577T>G (p.Val526Gly) c.948-81T>G (n.948-81T>G) c.3441+16540A>C (n.3441+16540A>C) c.*321T>G (n.*321T>G) c.1496T>G (p.Val499Gly) c.276+16540A>C (n.276+16540A>C) c.*220+6004T>G (n.*220+6004T>G) c.620T>G (p.Val207Gly) c.647T>G (p.Val216Gly) c.1502T>G (p.Val501Gly) c.1316T>G (p.Val439Gly) c.1235T>G (p.Val412Gly) c.941T>G (p.Val314Gly) c.1322T>G (p.Val441Gly) | |
2 | g.48688220A>G | CA346746123 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1577T>C (p.Val526Ala) c.948-81T>C (n.948-81T>C) c.3441+16540A>G (n.3441+16540A>G) c.*321T>C (n.*321T>C) c.1496T>C (p.Val499Ala) c.276+16540A>G (n.276+16540A>G) c.*220+6004T>C (n.*220+6004T>C) c.620T>C (p.Val207Ala) c.647T>C (p.Val216Ala) c.1502T>C (p.Val501Ala) c.1316T>C (p.Val439Ala) c.1235T>C (p.Val412Ala) c.941T>C (p.Val314Ala) c.1322T>C (p.Val441Ala) | |
2 | g.48688220A>T | CA346746125 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1577T>A (p.Val526Asp) c.948-81T>A (n.948-81T>A) c.3441+16540A>T (n.3441+16540A>T) c.*321T>A (n.*321T>A) c.1496T>A (p.Val499Asp) c.276+16540A>T (n.276+16540A>T) c.*220+6004T>A (n.*220+6004T>A) c.620T>A (p.Val207Asp) c.647T>A (p.Val216Asp) c.1502T>A (p.Val501Asp) c.1316T>A (p.Val439Asp) c.1235T>A (p.Val412Asp) c.941T>A (p.Val314Asp) c.1322T>A (p.Val441Asp) | |
2 | g.48688221C>A | CA346746126 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1576G>T (p.Val526Phe) c.948-82G>T (n.948-82G>T) c.3441+16541C>A (n.3441+16541C>A) c.*320G>T (n.*320G>T) c.1495G>T (p.Val499Phe) c.276+16541C>A (n.276+16541C>A) c.*220+6003G>T (n.*220+6003G>T) c.619G>T (p.Val207Phe) c.646G>T (p.Val216Phe) c.1501G>T (p.Val501Phe) c.1315G>T (p.Val439Phe) c.1234G>T (p.Val412Phe) c.940G>T (p.Val314Phe) c.1321G>T (p.Val441Phe) | gnomAD v4 |
2 | g.48688221C>G | CA346746127 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1576G>C (p.Val526Leu) c.948-82G>C (n.948-82G>C) c.3441+16541C>G (n.3441+16541C>G) c.*320G>C (n.*320G>C) c.1495G>C (p.Val499Leu) c.276+16541C>G (n.276+16541C>G) c.*220+6003G>C (n.*220+6003G>C) c.619G>C (p.Val207Leu) c.646G>C (p.Val216Leu) c.1501G>C (p.Val501Leu) c.1315G>C (p.Val439Leu) c.1234G>C (p.Val412Leu) c.940G>C (p.Val314Leu) c.1321G>C (p.Val441Leu) | |
2 | g.48688221C>T | CA346746128 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1576G>A (p.Val526Ile) c.948-82G>A (n.948-82G>A) c.3441+16541C>T (n.3441+16541C>T) c.*320G>A (n.*320G>A) c.1495G>A (p.Val499Ile) c.276+16541C>T (n.276+16541C>T) c.*220+6003G>A (n.*220+6003G>A) c.619G>A (p.Val207Ile) c.646G>A (p.Val216Ile) c.1501G>A (p.Val501Ile) c.1315G>A (p.Val439Ile) c.1234G>A (p.Val412Ile) c.940G>A (p.Val314Ile) c.1321G>A (p.Val441Ile) | |
2 | g.48688222T>A | CA346746133 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1575A>T (p.Gln525His) c.948-83A>T (n.948-83A>T) c.3441+16542T>A (n.3441+16542T>A) c.*319A>T (n.*319A>T) c.1494A>T (p.Gln498His) c.276+16542T>A (n.276+16542T>A) c.*220+6002A>T (n.*220+6002A>T) c.618A>T (p.Gln206His) c.645A>T (p.Gln215His) c.1500A>T (p.Gln500His) c.1314A>T (p.Gln438His) c.1233A>T (p.Gln411His) c.939A>T (p.Gln313His) c.1320A>T (p.Gln440His) | |
2 | g.48688222T>C | CA1653016 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1575A>G (p.Gln525=) c.948-83A>G (n.948-83A>G) c.3441+16542T>C (n.3441+16542T>C) c.*319A>G (n.*319A>G) c.1494A>G (p.Gln498=) c.276+16542T>C (n.276+16542T>C) c.*220+6002A>G (n.*220+6002A>G) c.618A>G (p.Gln206=) c.645A>G (p.Gln215=) c.1500A>G (p.Gln500=) c.1314A>G (p.Gln438=) c.1233A>G (p.Gln411=) c.939A>G (p.Gln313=) c.1320A>G (p.Gln440=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688222T>G | CA346746130 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1575A>C (p.Gln525His) c.948-83A>C (n.948-83A>C) c.3441+16542T>G (n.3441+16542T>G) c.*319A>C (n.*319A>C) c.1494A>C (p.Gln498His) c.276+16542T>G (n.276+16542T>G) c.*220+6002A>C (n.*220+6002A>C) c.618A>C (p.Gln206His) c.645A>C (p.Gln215His) c.1500A>C (p.Gln500His) c.1314A>C (p.Gln438His) c.1233A>C (p.Gln411His) c.939A>C (p.Gln313His) c.1320A>C (p.Gln440His) | |
2 | g.48688222T= | CA1248601038 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1575A= (p.Gln525=) c.948-83A= (n.948-83A=) c.3441+16542T= (n.3441+16542T=) c.*319A= (n.*319A=) c.1494A= (p.Gln498=) c.276+16542T= (n.276+16542T=) c.*220+6002A= (n.*220+6002A=) c.618A= (p.Gln206=) c.645A= (p.Gln215=) c.1500A= (p.Gln500=) c.1314A= (p.Gln438=) c.1233A= (p.Gln411=) c.939A= (p.Gln313=) c.1320A= (p.Gln440=) | |
2 | g.48688223T>A | CA346746135 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1574A>T (p.Gln525Leu) c.948-84A>T (n.948-84A>T) c.3441+16543T>A (n.3441+16543T>A) c.*318A>T (n.*318A>T) c.1493A>T (p.Gln498Leu) c.276+16543T>A (n.276+16543T>A) c.*220+6001A>T (n.*220+6001A>T) c.617A>T (p.Gln206Leu) c.644A>T (p.Gln215Leu) c.1499A>T (p.Gln500Leu) c.1313A>T (p.Gln438Leu) c.1232A>T (p.Gln411Leu) c.938A>T (p.Gln313Leu) c.1319A>T (p.Gln440Leu) | |
2 | g.48688223T>C | CA346746140 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1574A>G (p.Gln525Arg) c.948-84A>G (n.948-84A>G) c.3441+16543T>C (n.3441+16543T>C) c.*318A>G (n.*318A>G) c.1493A>G (p.Gln498Arg) c.276+16543T>C (n.276+16543T>C) c.*220+6001A>G (n.*220+6001A>G) c.617A>G (p.Gln206Arg) c.644A>G (p.Gln215Arg) c.1499A>G (p.Gln500Arg) c.1313A>G (p.Gln438Arg) c.1232A>G (p.Gln411Arg) c.938A>G (p.Gln313Arg) c.1319A>G (p.Gln440Arg) | gnomAD v4 |
2 | g.48688223T>G | CA346746142 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1574A>C (p.Gln525Pro) c.948-84A>C (n.948-84A>C) c.3441+16543T>G (n.3441+16543T>G) c.*318A>C (n.*318A>C) c.1493A>C (p.Gln498Pro) c.276+16543T>G (n.276+16543T>G) c.*220+6001A>C (n.*220+6001A>C) c.617A>C (p.Gln206Pro) c.644A>C (p.Gln215Pro) c.1499A>C (p.Gln500Pro) c.1313A>C (p.Gln438Pro) c.1232A>C (p.Gln411Pro) c.938A>C (p.Gln313Pro) c.1319A>C (p.Gln440Pro) | |
2 | g.48688224G>A | CA346746145 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1573C>T (p.Gln525Ter) c.948-85C>T (n.948-85C>T) c.3441+16544G>A (n.3441+16544G>A) c.*317C>T (n.*317C>T) c.1492C>T (p.Gln498Ter) c.276+16544G>A (n.276+16544G>A) c.*220+6000C>T (n.*220+6000C>T) c.616C>T (p.Gln206Ter) c.643C>T (p.Gln215Ter) c.1498C>T (p.Gln500Ter) c.1312C>T (p.Gln438Ter) c.1231C>T (p.Gln411Ter) c.937C>T (p.Gln313Ter) c.1318C>T (p.Gln440Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.48688224G>C | CA346746147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1573C>G (p.Gln525Glu) c.948-85C>G (n.948-85C>G) c.3441+16544G>C (n.3441+16544G>C) c.*317C>G (n.*317C>G) c.1492C>G (p.Gln498Glu) c.276+16544G>C (n.276+16544G>C) c.*220+6000C>G (n.*220+6000C>G) c.616C>G (p.Gln206Glu) c.643C>G (p.Gln215Glu) c.1498C>G (p.Gln500Glu) c.1312C>G (p.Gln438Glu) c.1231C>G (p.Gln411Glu) c.937C>G (p.Gln313Glu) c.1318C>G (p.Gln440Glu) | |
2 | g.48688224G= | CA1248601039 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1573C= (p.Gln525=) c.948-85C= (n.948-85C=) c.3441+16544G= (n.3441+16544G=) c.*317C= (n.*317C=) c.1492C= (p.Gln498=) c.276+16544G= (n.276+16544G=) c.*220+6000C= (n.*220+6000C=) c.616C= (p.Gln206=) c.643C= (p.Gln215=) c.1498C= (p.Gln500=) c.1312C= (p.Gln438=) c.1231C= (p.Gln411=) c.937C= (p.Gln313=) c.1318C= (p.Gln440=) | |
2 | g.48688224G>T | CA346746149 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1573C>A (p.Gln525Lys) c.948-85C>A (n.948-85C>A) c.3441+16544G>T (n.3441+16544G>T) c.*317C>A (n.*317C>A) c.1492C>A (p.Gln498Lys) c.276+16544G>T (n.276+16544G>T) c.*220+6000C>A (n.*220+6000C>A) c.616C>A (p.Gln206Lys) c.643C>A (p.Gln215Lys) c.1498C>A (p.Gln500Lys) c.1312C>A (p.Gln438Lys) c.1231C>A (p.Gln411Lys) c.937C>A (p.Gln313Lys) c.1318C>A (p.Gln440Lys) | |
2 | g.48688225T>A | CA426125377 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1572A>T (p.Ser524=) c.948-86A>T (n.948-86A>T) c.3441+16545T>A (n.3441+16545T>A) c.*316A>T (n.*316A>T) c.1491A>T (p.Ser497=) c.276+16545T>A (n.276+16545T>A) c.*220+5999A>T (n.*220+5999A>T) c.615A>T (p.Ser205=) c.642A>T (p.Ser214=) c.1497A>T (p.Ser499=) c.1311A>T (p.Ser437=) c.1230A>T (p.Ser410=) c.936A>T (p.Ser312=) c.1317A>T (p.Ser439=) | |
2 | g.48688225T>C | CA1653017 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1572A>G (p.Ser524=) c.948-86A>G (n.948-86A>G) c.3441+16545T>C (n.3441+16545T>C) c.*316A>G (n.*316A>G) c.1491A>G (p.Ser497=) c.276+16545T>C (n.276+16545T>C) c.*220+5999A>G (n.*220+5999A>G) c.615A>G (p.Ser205=) c.642A>G (p.Ser214=) c.1497A>G (p.Ser499=) c.1311A>G (p.Ser437=) c.1230A>G (p.Ser410=) c.936A>G (p.Ser312=) c.1317A>G (p.Ser439=) | dbSNP ExAC gnomAD v2 |
2 | g.48688225T>G | CA426125378 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1572A>C (p.Ser524=) c.948-86A>C (n.948-86A>C) c.3441+16545T>G (n.3441+16545T>G) c.*316A>C (n.*316A>C) c.1491A>C (p.Ser497=) c.276+16545T>G (n.276+16545T>G) c.*220+5999A>C (n.*220+5999A>C) c.615A>C (p.Ser205=) c.642A>C (p.Ser214=) c.1497A>C (p.Ser499=) c.1311A>C (p.Ser437=) c.1230A>C (p.Ser410=) c.936A>C (p.Ser312=) c.1317A>C (p.Ser439=) | |
2 | g.48688225T= | CA1248601040 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1572A= (p.Ser524=) c.948-86A= (n.948-86A=) c.3441+16545T= (n.3441+16545T=) c.*316A= (n.*316A=) c.1491A= (p.Ser497=) c.276+16545T= (n.276+16545T=) c.*220+5999A= (n.*220+5999A=) c.615A= (p.Ser205=) c.642A= (p.Ser214=) c.1497A= (p.Ser499=) c.1311A= (p.Ser437=) c.1230A= (p.Ser410=) c.936A= (p.Ser312=) c.1317A= (p.Ser439=) | |
2 | g.48688226G>A | CA346746155 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1571C>T (p.Ser524Leu) c.948-87C>T (n.948-87C>T) c.3441+16546G>A (n.3441+16546G>A) c.*315C>T (n.*315C>T) c.1490C>T (p.Ser497Leu) c.276+16546G>A (n.276+16546G>A) c.*220+5998C>T (n.*220+5998C>T) c.614C>T (p.Ser205Leu) c.641C>T (p.Ser214Leu) c.1496C>T (p.Ser499Leu) c.1310C>T (p.Ser437Leu) c.1229C>T (p.Ser410Leu) c.935C>T (p.Ser312Leu) c.1316C>T (p.Ser439Leu) | COSMIC |
2 | g.48688226G>C | CA346746157 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1571C>G (p.Ser524Ter) c.948-87C>G (n.948-87C>G) c.3441+16546G>C (n.3441+16546G>C) c.*315C>G (n.*315C>G) c.1490C>G (p.Ser497Ter) c.276+16546G>C (n.276+16546G>C) c.*220+5998C>G (n.*220+5998C>G) c.614C>G (p.Ser205Ter) c.641C>G (p.Ser214Ter) c.1496C>G (p.Ser499Ter) c.1310C>G (p.Ser437Ter) c.1229C>G (p.Ser410Ter) c.935C>G (p.Ser312Ter) c.1316C>G (p.Ser439Ter) | |
2 | g.48688226G>T | CA346746159 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1571C>A (p.Ser524Ter) c.948-87C>A (n.948-87C>A) c.3441+16546G>T (n.3441+16546G>T) c.*315C>A (n.*315C>A) c.1490C>A (p.Ser497Ter) c.276+16546G>T (n.276+16546G>T) c.*220+5998C>A (n.*220+5998C>A) c.614C>A (p.Ser205Ter) c.641C>A (p.Ser214Ter) c.1496C>A (p.Ser499Ter) c.1310C>A (p.Ser437Ter) c.1229C>A (p.Ser410Ter) c.935C>A (p.Ser312Ter) c.1316C>A (p.Ser439Ter) | |
2 | g.48688227A>C | CA346746161 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1570T>G (p.Ser524Ala) c.948-88T>G (n.948-88T>G) c.3441+16547A>C (n.3441+16547A>C) c.*314T>G (n.*314T>G) c.1489T>G (p.Ser497Ala) c.276+16547A>C (n.276+16547A>C) c.*220+5997T>G (n.*220+5997T>G) c.613T>G (p.Ser205Ala) c.640T>G (p.Ser214Ala) c.1495T>G (p.Ser499Ala) c.1309T>G (p.Ser437Ala) c.1228T>G (p.Ser410Ala) c.934T>G (p.Ser312Ala) c.1315T>G (p.Ser439Ala) | |
2 | g.48688227A>G | CA346746162 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1570T>C (p.Ser524Pro) c.948-88T>C (n.948-88T>C) c.3441+16547A>G (n.3441+16547A>G) c.*314T>C (n.*314T>C) c.1489T>C (p.Ser497Pro) c.276+16547A>G (n.276+16547A>G) c.*220+5997T>C (n.*220+5997T>C) c.613T>C (p.Ser205Pro) c.640T>C (p.Ser214Pro) c.1495T>C (p.Ser499Pro) c.1309T>C (p.Ser437Pro) c.1228T>C (p.Ser410Pro) c.934T>C (p.Ser312Pro) c.1315T>C (p.Ser439Pro) | |
2 | g.48688227A>T | CA346746163 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1570T>A (p.Ser524Thr) c.948-88T>A (n.948-88T>A) c.3441+16547A>T (n.3441+16547A>T) c.*314T>A (n.*314T>A) c.1489T>A (p.Ser497Thr) c.276+16547A>T (n.276+16547A>T) c.*220+5997T>A (n.*220+5997T>A) c.613T>A (p.Ser205Thr) c.640T>A (p.Ser214Thr) c.1495T>A (p.Ser499Thr) c.1309T>A (p.Ser437Thr) c.1228T>A (p.Ser410Thr) c.934T>A (p.Ser312Thr) c.1315T>A (p.Ser439Thr) | |
2 | g.48688228G>A | CA426125391 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1569C>T (p.Leu523=) c.948-89C>T (n.948-89C>T) c.3441+16548G>A (n.3441+16548G>A) c.*313C>T (n.*313C>T) c.1488C>T (p.Leu496=) c.276+16548G>A (n.276+16548G>A) c.*220+5996C>T (n.*220+5996C>T) c.612C>T (p.Leu204=) c.639C>T (p.Leu213=) c.1494C>T (p.Leu498=) c.1308C>T (p.Leu436=) c.1227C>T (p.Leu409=) c.933C>T (p.Leu311=) c.1314C>T (p.Leu438=) | gnomAD v4 |
2 | g.48688228G>C | CA426125392 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1569C>G (p.Leu523=) c.948-89C>G (n.948-89C>G) c.3441+16548G>C (n.3441+16548G>C) c.*313C>G (n.*313C>G) c.1488C>G (p.Leu496=) c.276+16548G>C (n.276+16548G>C) c.*220+5996C>G (n.*220+5996C>G) c.612C>G (p.Leu204=) c.639C>G (p.Leu213=) c.1494C>G (p.Leu498=) c.1308C>G (p.Leu436=) c.1227C>G (p.Leu409=) c.933C>G (p.Leu311=) c.1314C>G (p.Leu438=) | |
2 | g.48688228G>T | CA426125393 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1569C>A (p.Leu523=) c.948-89C>A (n.948-89C>A) c.3441+16548G>T (n.3441+16548G>T) c.*313C>A (n.*313C>A) c.1488C>A (p.Leu496=) c.276+16548G>T (n.276+16548G>T) c.*220+5996C>A (n.*220+5996C>A) c.612C>A (p.Leu204=) c.639C>A (p.Leu213=) c.1494C>A (p.Leu498=) c.1308C>A (p.Leu436=) c.1227C>A (p.Leu409=) c.933C>A (p.Leu311=) c.1314C>A (p.Leu438=) | |
2 | g.48688229A>C | CA346746169 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1568T>G (p.Leu523Arg) c.948-90T>G (n.948-90T>G) c.3441+16549A>C (n.3441+16549A>C) c.*312T>G (n.*312T>G) c.1487T>G (p.Leu496Arg) c.276+16549A>C (n.276+16549A>C) c.*220+5995T>G (n.*220+5995T>G) c.611T>G (p.Leu204Arg) c.638T>G (p.Leu213Arg) c.1493T>G (p.Leu498Arg) c.1307T>G (p.Leu436Arg) c.1226T>G (p.Leu409Arg) c.932T>G (p.Leu311Arg) c.1313T>G (p.Leu438Arg) | gnomAD v4 |
2 | g.48688229A>G | CA346746172 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1568T>C (p.Leu523Pro) c.948-90T>C (n.948-90T>C) c.3441+16549A>G (n.3441+16549A>G) c.*312T>C (n.*312T>C) c.1487T>C (p.Leu496Pro) c.276+16549A>G (n.276+16549A>G) c.*220+5995T>C (n.*220+5995T>C) c.611T>C (p.Leu204Pro) c.638T>C (p.Leu213Pro) c.1493T>C (p.Leu498Pro) c.1307T>C (p.Leu436Pro) c.1226T>C (p.Leu409Pro) c.932T>C (p.Leu311Pro) c.1313T>C (p.Leu438Pro) | |
2 | g.48688229A>T | CA346746165 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1568T>A (p.Leu523His) c.948-90T>A (n.948-90T>A) c.3441+16549A>T (n.3441+16549A>T) c.*312T>A (n.*312T>A) c.1487T>A (p.Leu496His) c.276+16549A>T (n.276+16549A>T) c.*220+5995T>A (n.*220+5995T>A) c.611T>A (p.Leu204His) c.638T>A (p.Leu213His) c.1493T>A (p.Leu498His) c.1307T>A (p.Leu436His) c.1226T>A (p.Leu409His) c.932T>A (p.Leu311His) c.1313T>A (p.Leu438His) | |
2 | g.48688230G>A | CA346746177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C>T (p.Leu523Phe) c.948-91C>T (n.948-91C>T) c.3441+16550G>A (n.3441+16550G>A) c.*311C>T (n.*311C>T) c.1486C>T (p.Leu496Phe) c.276+16550G>A (n.276+16550G>A) c.*220+5994C>T (n.*220+5994C>T) c.610C>T (p.Leu204Phe) c.637C>T (p.Leu213Phe) c.1492C>T (p.Leu498Phe) c.1306C>T (p.Leu436Phe) c.1225C>T (p.Leu409Phe) c.931C>T (p.Leu311Phe) c.1312C>T (p.Leu438Phe) | COSMIC |
2 | g.48688230G>C | CA346746176 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C>G (p.Leu523Val) c.948-91C>G (n.948-91C>G) c.3441+16550G>C (n.3441+16550G>C) c.*311C>G (n.*311C>G) c.1486C>G (p.Leu496Val) c.276+16550G>C (n.276+16550G>C) c.*220+5994C>G (n.*220+5994C>G) c.610C>G (p.Leu204Val) c.637C>G (p.Leu213Val) c.1492C>G (p.Leu498Val) c.1306C>G (p.Leu436Val) c.1225C>G (p.Leu409Val) c.931C>G (p.Leu311Val) c.1312C>G (p.Leu438Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688230G= | CA1248601041 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C= (p.Leu523=) c.948-91C= (n.948-91C=) c.3441+16550G= (n.3441+16550G=) c.*311C= (n.*311C=) c.1486C= (p.Leu496=) c.276+16550G= (n.276+16550G=) c.*220+5994C= (n.*220+5994C=) c.610C= (p.Leu204=) c.637C= (p.Leu213=) c.1492C= (p.Leu498=) c.1306C= (p.Leu436=) c.1225C= (p.Leu409=) c.931C= (p.Leu311=) c.1312C= (p.Leu438=) | |
2 | g.48688230G>T | CA346746178 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1567C>A (p.Leu523Ile) c.948-91C>A (n.948-91C>A) c.3441+16550G>T (n.3441+16550G>T) c.*311C>A (n.*311C>A) c.1486C>A (p.Leu496Ile) c.276+16550G>T (n.276+16550G>T) c.*220+5994C>A (n.*220+5994C>A) c.610C>A (p.Leu204Ile) c.637C>A (p.Leu213Ile) c.1492C>A (p.Leu498Ile) c.1306C>A (p.Leu436Ile) c.1225C>A (p.Leu409Ile) c.931C>A (p.Leu311Ile) c.1312C>A (p.Leu438Ile) | gnomAD v4 |
2 | g.48688231A>C | CA426125403 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1566T>G (p.Thr522=) c.948-92T>G (n.948-92T>G) c.3441+16551A>C (n.3441+16551A>C) c.*310T>G (n.*310T>G) c.1485T>G (p.Thr495=) c.276+16551A>C (n.276+16551A>C) c.*220+5993T>G (n.*220+5993T>G) c.609T>G (p.Thr203=) c.636T>G (p.Thr212=) c.1491T>G (p.Thr497=) c.1305T>G (p.Thr435=) c.1224T>G (p.Thr408=) c.930T>G (p.Thr310=) c.1311T>G (p.Thr437=) | |
2 | g.48688231A>G | CA426125407 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1566T>C (p.Thr522=) c.948-92T>C (n.948-92T>C) c.3441+16551A>G (n.3441+16551A>G) c.*310T>C (n.*310T>C) c.1485T>C (p.Thr495=) c.276+16551A>G (n.276+16551A>G) c.*220+5993T>C (n.*220+5993T>C) c.609T>C (p.Thr203=) c.636T>C (p.Thr212=) c.1491T>C (p.Thr497=) c.1305T>C (p.Thr435=) c.1224T>C (p.Thr408=) c.930T>C (p.Thr310=) c.1311T>C (p.Thr437=) | |
2 | g.48688231A>T | CA426125409 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1566T>A (p.Thr522=) c.948-92T>A (n.948-92T>A) c.3441+16551A>T (n.3441+16551A>T) c.*310T>A (n.*310T>A) c.1485T>A (p.Thr495=) c.276+16551A>T (n.276+16551A>T) c.*220+5993T>A (n.*220+5993T>A) c.609T>A (p.Thr203=) c.636T>A (p.Thr212=) c.1491T>A (p.Thr497=) c.1305T>A (p.Thr435=) c.1224T>A (p.Thr408=) c.930T>A (p.Thr310=) c.1311T>A (p.Thr437=) | gnomAD v4 |
2 | g.48688232G>A | CA346746179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C>T (p.Thr522Ile) c.948-93C>T (n.948-93C>T) c.3441+16552G>A (n.3441+16552G>A) c.*309C>T (n.*309C>T) c.1484C>T (p.Thr495Ile) c.276+16552G>A (n.276+16552G>A) c.*220+5992C>T (n.*220+5992C>T) c.608C>T (p.Thr203Ile) c.635C>T (p.Thr212Ile) c.1490C>T (p.Thr497Ile) c.1304C>T (p.Thr435Ile) c.1223C>T (p.Thr408Ile) c.929C>T (p.Thr310Ile) c.1310C>T (p.Thr437Ile) | COSMIC |
2 | g.48688232G>C | CA1653018 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C>G (p.Thr522Ser) c.948-93C>G (n.948-93C>G) c.3441+16552G>C (n.3441+16552G>C) c.*309C>G (n.*309C>G) c.1484C>G (p.Thr495Ser) c.276+16552G>C (n.276+16552G>C) c.*220+5992C>G (n.*220+5992C>G) c.608C>G (p.Thr203Ser) c.635C>G (p.Thr212Ser) c.1490C>G (p.Thr497Ser) c.1304C>G (p.Thr435Ser) c.1223C>G (p.Thr408Ser) c.929C>G (p.Thr310Ser) c.1310C>G (p.Thr437Ser) | dbSNP ExAC gnomAD v2 |
2 | g.48688232G= | CA1248601042 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C= (p.Thr522=) c.948-93C= (n.948-93C=) c.3441+16552G= (n.3441+16552G=) c.*309C= (n.*309C=) c.1484C= (p.Thr495=) c.276+16552G= (n.276+16552G=) c.*220+5992C= (n.*220+5992C=) c.608C= (p.Thr203=) c.635C= (p.Thr212=) c.1490C= (p.Thr497=) c.1304C= (p.Thr435=) c.1223C= (p.Thr408=) c.929C= (p.Thr310=) c.1310C= (p.Thr437=) | |
2 | g.48688232G>T | CA346746181 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1565C>A (p.Thr522Asn) c.948-93C>A (n.948-93C>A) c.3441+16552G>T (n.3441+16552G>T) c.*309C>A (n.*309C>A) c.1484C>A (p.Thr495Asn) c.276+16552G>T (n.276+16552G>T) c.*220+5992C>A (n.*220+5992C>A) c.608C>A (p.Thr203Asn) c.635C>A (p.Thr212Asn) c.1490C>A (p.Thr497Asn) c.1304C>A (p.Thr435Asn) c.1223C>A (p.Thr408Asn) c.929C>A (p.Thr310Asn) c.1310C>A (p.Thr437Asn) | |
2 | g.48688233T>A | CA346746191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1564A>T (p.Thr522Ser) c.948-94A>T (n.948-94A>T) c.3441+16553T>A (n.3441+16553T>A) c.*308A>T (n.*308A>T) c.1483A>T (p.Thr495Ser) c.276+16553T>A (n.276+16553T>A) c.*220+5991A>T (n.*220+5991A>T) c.607A>T (p.Thr203Ser) c.634A>T (p.Thr212Ser) c.1489A>T (p.Thr497Ser) c.1303A>T (p.Thr435Ser) c.1222A>T (p.Thr408Ser) c.928A>T (p.Thr310Ser) c.1309A>T (p.Thr437Ser) | |
2 | g.48688233T>C | CA346746195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1564A>G (p.Thr522Ala) c.948-94A>G (n.948-94A>G) c.3441+16553T>C (n.3441+16553T>C) c.*308A>G (n.*308A>G) c.1483A>G (p.Thr495Ala) c.276+16553T>C (n.276+16553T>C) c.*220+5991A>G (n.*220+5991A>G) c.607A>G (p.Thr203Ala) c.634A>G (p.Thr212Ala) c.1489A>G (p.Thr497Ala) c.1303A>G (p.Thr435Ala) c.1222A>G (p.Thr408Ala) c.928A>G (p.Thr310Ala) c.1309A>G (p.Thr437Ala) | |
2 | g.48688233T>G | CA346746198 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1564A>C (p.Thr522Pro) c.948-94A>C (n.948-94A>C) c.3441+16553T>G (n.3441+16553T>G) c.*308A>C (n.*308A>C) c.1483A>C (p.Thr495Pro) c.276+16553T>G (n.276+16553T>G) c.*220+5991A>C (n.*220+5991A>C) c.607A>C (p.Thr203Pro) c.634A>C (p.Thr212Pro) c.1489A>C (p.Thr497Pro) c.1303A>C (p.Thr435Pro) c.1222A>C (p.Thr408Pro) c.928A>C (p.Thr310Pro) c.1309A>C (p.Thr437Pro) | |
2 | g.48688234G>A | CA426125411 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C>T (p.Thr521=) c.948-95C>T (n.948-95C>T) c.3441+16554G>A (n.3441+16554G>A) c.*307C>T (n.*307C>T) c.1482C>T (p.Thr494=) c.276+16554G>A (n.276+16554G>A) c.*220+5990C>T (n.*220+5990C>T) c.606C>T (p.Thr202=) c.633C>T (p.Thr211=) c.1488C>T (p.Thr496=) c.1302C>T (p.Thr434=) c.1221C>T (p.Thr407=) c.927C>T (p.Thr309=) c.1308C>T (p.Thr436=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688234G>C | CA426125414 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C>G (p.Thr521=) c.948-95C>G (n.948-95C>G) c.3441+16554G>C (n.3441+16554G>C) c.*307C>G (n.*307C>G) c.1482C>G (p.Thr494=) c.276+16554G>C (n.276+16554G>C) c.*220+5990C>G (n.*220+5990C>G) c.606C>G (p.Thr202=) c.633C>G (p.Thr211=) c.1488C>G (p.Thr496=) c.1302C>G (p.Thr434=) c.1221C>G (p.Thr407=) c.927C>G (p.Thr309=) c.1308C>G (p.Thr436=) | |
2 | g.48688234G= | CA1248601043 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C= (p.Thr521=) c.948-95C= (n.948-95C=) c.3441+16554G= (n.3441+16554G=) c.*307C= (n.*307C=) c.1482C= (p.Thr494=) c.276+16554G= (n.276+16554G=) c.*220+5990C= (n.*220+5990C=) c.606C= (p.Thr202=) c.633C= (p.Thr211=) c.1488C= (p.Thr496=) c.1302C= (p.Thr434=) c.1221C= (p.Thr407=) c.927C= (p.Thr309=) c.1308C= (p.Thr436=) | |
2 | g.48688234G>T | CA426125416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1563C>A (p.Thr521=) c.948-95C>A (n.948-95C>A) c.3441+16554G>T (n.3441+16554G>T) c.*307C>A (n.*307C>A) c.1482C>A (p.Thr494=) c.276+16554G>T (n.276+16554G>T) c.*220+5990C>A (n.*220+5990C>A) c.606C>A (p.Thr202=) c.633C>A (p.Thr211=) c.1488C>A (p.Thr496=) c.1302C>A (p.Thr434=) c.1221C>A (p.Thr407=) c.927C>A (p.Thr309=) c.1308C>A (p.Thr436=) | |
2 | g.48688235G>A | CA346746205 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C>T (p.Thr521Ile) c.948-96C>T (n.948-96C>T) c.3441+16555G>A (n.3441+16555G>A) c.*306C>T (n.*306C>T) c.1481C>T (p.Thr494Ile) c.276+16555G>A (n.276+16555G>A) c.*220+5989C>T (n.*220+5989C>T) c.605C>T (p.Thr202Ile) c.632C>T (p.Thr211Ile) c.1487C>T (p.Thr496Ile) c.1301C>T (p.Thr434Ile) c.1220C>T (p.Thr407Ile) c.926C>T (p.Thr309Ile) c.1307C>T (p.Thr436Ile) | |
2 | g.48688235G>C | CA346746207 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C>G (p.Thr521Ser) c.948-96C>G (n.948-96C>G) c.3441+16555G>C (n.3441+16555G>C) c.*306C>G (n.*306C>G) c.1481C>G (p.Thr494Ser) c.276+16555G>C (n.276+16555G>C) c.*220+5989C>G (n.*220+5989C>G) c.605C>G (p.Thr202Ser) c.632C>G (p.Thr211Ser) c.1487C>G (p.Thr496Ser) c.1301C>G (p.Thr434Ser) c.1220C>G (p.Thr407Ser) c.926C>G (p.Thr309Ser) c.1307C>G (p.Thr436Ser) | |
2 | g.48688235G= | CA1248601044 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C= (p.Thr521=) c.948-96C= (n.948-96C=) c.3441+16555G= (n.3441+16555G=) c.*306C= (n.*306C=) c.1481C= (p.Thr494=) c.276+16555G= (n.276+16555G=) c.*220+5989C= (n.*220+5989C=) c.605C= (p.Thr202=) c.632C= (p.Thr211=) c.1487C= (p.Thr496=) c.1301C= (p.Thr434=) c.1220C= (p.Thr407=) c.926C= (p.Thr309=) c.1307C= (p.Thr436=) | |
2 | g.48688235G>T | CA346746220 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1562C>A (p.Thr521Asn) c.948-96C>A (n.948-96C>A) c.3441+16555G>T (n.3441+16555G>T) c.*306C>A (n.*306C>A) c.1481C>A (p.Thr494Asn) c.276+16555G>T (n.276+16555G>T) c.*220+5989C>A (n.*220+5989C>A) c.605C>A (p.Thr202Asn) c.632C>A (p.Thr211Asn) c.1487C>A (p.Thr496Asn) c.1301C>A (p.Thr434Asn) c.1220C>A (p.Thr407Asn) c.926C>A (p.Thr309Asn) c.1307C>A (p.Thr436Asn) | dbSNP COSMIC |
2 | g.48688236T>A | CA346746223 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1561A>T (p.Thr521Ser) c.948-97A>T (n.948-97A>T) c.3441+16556T>A (n.3441+16556T>A) c.*305A>T (n.*305A>T) c.1480A>T (p.Thr494Ser) c.276+16556T>A (n.276+16556T>A) c.*220+5988A>T (n.*220+5988A>T) c.604A>T (p.Thr202Ser) c.631A>T (p.Thr211Ser) c.1486A>T (p.Thr496Ser) c.1300A>T (p.Thr434Ser) c.1219A>T (p.Thr407Ser) c.925A>T (p.Thr309Ser) c.1306A>T (p.Thr436Ser) | |
2 | g.48688236T>C | CA346746227 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1561A>G (p.Thr521Ala) c.948-97A>G (n.948-97A>G) c.3441+16556T>C (n.3441+16556T>C) c.*305A>G (n.*305A>G) c.1480A>G (p.Thr494Ala) c.276+16556T>C (n.276+16556T>C) c.*220+5988A>G (n.*220+5988A>G) c.604A>G (p.Thr202Ala) c.631A>G (p.Thr211Ala) c.1486A>G (p.Thr496Ala) c.1300A>G (p.Thr434Ala) c.1219A>G (p.Thr407Ala) c.925A>G (p.Thr309Ala) c.1306A>G (p.Thr436Ala) | gnomAD v4 |
2 | g.48688236T>G | CA346746230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1561A>C (p.Thr521Pro) c.948-97A>C (n.948-97A>C) c.3441+16556T>G (n.3441+16556T>G) c.*305A>C (n.*305A>C) c.1480A>C (p.Thr494Pro) c.276+16556T>G (n.276+16556T>G) c.*220+5988A>C (n.*220+5988A>C) c.604A>C (p.Thr202Pro) c.631A>C (p.Thr211Pro) c.1486A>C (p.Thr496Pro) c.1300A>C (p.Thr434Pro) c.1219A>C (p.Thr407Pro) c.925A>C (p.Thr309Pro) c.1306A>C (p.Thr436Pro) | gnomAD v3 gnomAD v4 |
2 | g.48688237T>A | CA346746234 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1560A>T (p.Glu520Asp) c.948-98A>T (n.948-98A>T) c.3441+16557T>A (n.3441+16557T>A) c.*304A>T (n.*304A>T) c.1479A>T (p.Glu493Asp) c.276+16557T>A (n.276+16557T>A) c.*220+5987A>T (n.*220+5987A>T) c.603A>T (p.Glu201Asp) c.630A>T (p.Glu210Asp) c.1485A>T (p.Glu495Asp) c.1299A>T (p.Glu433Asp) c.1218A>T (p.Glu406Asp) c.924A>T (p.Glu308Asp) c.1305A>T (p.Glu435Asp) | |
2 | g.48688237T>C | CA426125421 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1560A>G (p.Glu520=) c.948-98A>G (n.948-98A>G) c.3441+16557T>C (n.3441+16557T>C) c.*304A>G (n.*304A>G) c.1479A>G (p.Glu493=) c.276+16557T>C (n.276+16557T>C) c.*220+5987A>G (n.*220+5987A>G) c.603A>G (p.Glu201=) c.630A>G (p.Glu210=) c.1485A>G (p.Glu495=) c.1299A>G (p.Glu433=) c.1218A>G (p.Glu406=) c.924A>G (p.Glu308=) c.1305A>G (p.Glu435=) | |
2 | g.48688237T>G | CA346746231 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1560A>C (p.Glu520Asp) c.948-98A>C (n.948-98A>C) c.3441+16557T>G (n.3441+16557T>G) c.*304A>C (n.*304A>C) c.1479A>C (p.Glu493Asp) c.276+16557T>G (n.276+16557T>G) c.*220+5987A>C (n.*220+5987A>C) c.603A>C (p.Glu201Asp) c.630A>C (p.Glu210Asp) c.1485A>C (p.Glu495Asp) c.1299A>C (p.Glu433Asp) c.1218A>C (p.Glu406Asp) c.924A>C (p.Glu308Asp) c.1305A>C (p.Glu435Asp) | gnomAD v4 |
2 | g.48688238T>A | CA346746238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1559A>T (p.Glu520Val) c.948-99A>T (n.948-99A>T) c.3441+16558T>A (n.3441+16558T>A) c.*303A>T (n.*303A>T) c.1478A>T (p.Glu493Val) c.276+16558T>A (n.276+16558T>A) c.*220+5986A>T (n.*220+5986A>T) c.602A>T (p.Glu201Val) c.629A>T (p.Glu210Val) c.1484A>T (p.Glu495Val) c.1298A>T (p.Glu433Val) c.1217A>T (p.Glu406Val) c.923A>T (p.Glu308Val) c.1304A>T (p.Glu435Val) | |
2 | g.48688238T>C | CA346746241 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1559A>G (p.Glu520Gly) c.948-99A>G (n.948-99A>G) c.3441+16558T>C (n.3441+16558T>C) c.*303A>G (n.*303A>G) c.1478A>G (p.Glu493Gly) c.276+16558T>C (n.276+16558T>C) c.*220+5986A>G (n.*220+5986A>G) c.602A>G (p.Glu201Gly) c.629A>G (p.Glu210Gly) c.1484A>G (p.Glu495Gly) c.1298A>G (p.Glu433Gly) c.1217A>G (p.Glu406Gly) c.923A>G (p.Glu308Gly) c.1304A>G (p.Glu435Gly) | |
2 | g.48688238T>G | CA346746244 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1559A>C (p.Glu520Ala) c.948-99A>C (n.948-99A>C) c.3441+16558T>G (n.3441+16558T>G) c.*303A>C (n.*303A>C) c.1478A>C (p.Glu493Ala) c.276+16558T>G (n.276+16558T>G) c.*220+5986A>C (n.*220+5986A>C) c.602A>C (p.Glu201Ala) c.629A>C (p.Glu210Ala) c.1484A>C (p.Glu495Ala) c.1298A>C (p.Glu433Ala) c.1217A>C (p.Glu406Ala) c.923A>C (p.Glu308Ala) c.1304A>C (p.Glu435Ala) | |
2 | g.48688239C>A | CA346746248 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1558G>T (p.Glu520Ter) c.948-100G>T (n.948-100G>T) c.3441+16559C>A (n.3441+16559C>A) c.*302G>T (n.*302G>T) c.1477G>T (p.Glu493Ter) c.276+16559C>A (n.276+16559C>A) c.*220+5985G>T (n.*220+5985G>T) c.601G>T (p.Glu201Ter) c.628G>T (p.Glu210Ter) c.1483G>T (p.Glu495Ter) c.1297G>T (p.Glu433Ter) c.1216G>T (p.Glu406Ter) c.922G>T (p.Glu308Ter) c.1303G>T (p.Glu435Ter) | |
2 | g.48688239C>G | CA346746251 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1558G>C (p.Glu520Gln) c.948-100G>C (n.948-100G>C) c.3441+16559C>G (n.3441+16559C>G) c.*302G>C (n.*302G>C) c.1477G>C (p.Glu493Gln) c.276+16559C>G (n.276+16559C>G) c.*220+5985G>C (n.*220+5985G>C) c.601G>C (p.Glu201Gln) c.628G>C (p.Glu210Gln) c.1483G>C (p.Glu495Gln) c.1297G>C (p.Glu433Gln) c.1216G>C (p.Glu406Gln) c.922G>C (p.Glu308Gln) c.1303G>C (p.Glu435Gln) | gnomAD v4 |
2 | g.48688239C>T | CA346746252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1558G>A (p.Glu520Lys) c.948-100G>A (n.948-100G>A) c.3441+16559C>T (n.3441+16559C>T) c.*302G>A (n.*302G>A) c.1477G>A (p.Glu493Lys) c.276+16559C>T (n.276+16559C>T) c.*220+5985G>A (n.*220+5985G>A) c.601G>A (p.Glu201Lys) c.628G>A (p.Glu210Lys) c.1483G>A (p.Glu495Lys) c.1297G>A (p.Glu433Lys) c.1216G>A (p.Glu406Lys) c.922G>A (p.Glu308Lys) c.1303G>A (p.Glu435Lys) | |
2 | g.48688240C>A | CA426125431 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G>T (p.Val519=) c.948-101G>T (n.948-101G>T) c.3441+16560C>A (n.3441+16560C>A) c.*301G>T (n.*301G>T) c.1476G>T (p.Val492=) c.276+16560C>A (n.276+16560C>A) c.*220+5984G>T (n.*220+5984G>T) c.600G>T (p.Val200=) c.627G>T (p.Val209=) c.1482G>T (p.Val494=) c.1296G>T (p.Val432=) c.1215G>T (p.Val405=) c.921G>T (p.Val307=) c.1302G>T (p.Val434=) | |
2 | g.48688240C= | CA1248601045 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G= (p.Val519=) c.948-101G= (n.948-101G=) c.3441+16560C= (n.3441+16560C=) c.*301G= (n.*301G=) c.1476G= (p.Val492=) c.276+16560C= (n.276+16560C=) c.*220+5984G= (n.*220+5984G=) c.600G= (p.Val200=) c.627G= (p.Val209=) c.1482G= (p.Val494=) c.1296G= (p.Val432=) c.1215G= (p.Val405=) c.921G= (p.Val307=) c.1302G= (p.Val434=) | |
2 | g.48688240C>G | CA426125432 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G>C (p.Val519=) c.948-101G>C (n.948-101G>C) c.3441+16560C>G (n.3441+16560C>G) c.*301G>C (n.*301G>C) c.1476G>C (p.Val492=) c.276+16560C>G (n.276+16560C>G) c.*220+5984G>C (n.*220+5984G>C) c.600G>C (p.Val200=) c.627G>C (p.Val209=) c.1482G>C (p.Val494=) c.1296G>C (p.Val432=) c.1215G>C (p.Val405=) c.921G>C (p.Val307=) c.1302G>C (p.Val434=) | |
2 | g.48688240C>T | CA46752909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1557G>A (p.Val519=) c.948-101G>A (n.948-101G>A) c.3441+16560C>T (n.3441+16560C>T) c.*301G>A (n.*301G>A) c.1476G>A (p.Val492=) c.276+16560C>T (n.276+16560C>T) c.*220+5984G>A (n.*220+5984G>A) c.600G>A (p.Val200=) c.627G>A (p.Val209=) c.1482G>A (p.Val494=) c.1296G>A (p.Val432=) c.1215G>A (p.Val405=) c.921G>A (p.Val307=) c.1302G>A (p.Val434=) | dbSNP |
2 | g.48688241A= | CA1248601046 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T= (p.Val519=) c.948-102T= (n.948-102T=) c.3441+16561A= (n.3441+16561A=) c.*300T= (n.*300T=) c.1475T= (p.Val492=) c.276+16561A= (n.276+16561A=) c.*220+5983T= (n.*220+5983T=) c.599T= (p.Val200=) c.626T= (p.Val209=) c.1481T= (p.Val494=) c.1295T= (p.Val432=) c.1214T= (p.Val405=) c.920T= (p.Val307=) c.1301T= (p.Val434=) | |
2 | g.48688241A>C | CA346746270 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T>G (p.Val519Gly) c.948-102T>G (n.948-102T>G) c.3441+16561A>C (n.3441+16561A>C) c.*300T>G (n.*300T>G) c.1475T>G (p.Val492Gly) c.276+16561A>C (n.276+16561A>C) c.*220+5983T>G (n.*220+5983T>G) c.599T>G (p.Val200Gly) c.626T>G (p.Val209Gly) c.1481T>G (p.Val494Gly) c.1295T>G (p.Val432Gly) c.1214T>G (p.Val405Gly) c.920T>G (p.Val307Gly) c.1301T>G (p.Val434Gly) | |
2 | g.48688241A>G | CA346746276 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T>C (p.Val519Ala) c.948-102T>C (n.948-102T>C) c.3441+16561A>G (n.3441+16561A>G) c.*300T>C (n.*300T>C) c.1475T>C (p.Val492Ala) c.276+16561A>G (n.276+16561A>G) c.*220+5983T>C (n.*220+5983T>C) c.599T>C (p.Val200Ala) c.626T>C (p.Val209Ala) c.1481T>C (p.Val494Ala) c.1295T>C (p.Val432Ala) c.1214T>C (p.Val405Ala) c.920T>C (p.Val307Ala) c.1301T>C (p.Val434Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688241A>T | CA346746279 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1556T>A (p.Val519Glu) c.948-102T>A (n.948-102T>A) c.3441+16561A>T (n.3441+16561A>T) c.*300T>A (n.*300T>A) c.1475T>A (p.Val492Glu) c.276+16561A>T (n.276+16561A>T) c.*220+5983T>A (n.*220+5983T>A) c.599T>A (p.Val200Glu) c.626T>A (p.Val209Glu) c.1481T>A (p.Val494Glu) c.1295T>A (p.Val432Glu) c.1214T>A (p.Val405Glu) c.920T>A (p.Val307Glu) c.1301T>A (p.Val434Glu) | |
2 | g.48688242C>A | CA346746282 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G>T (p.Val519Leu) c.948-103G>T (n.948-103G>T) c.3441+16562C>A (n.3441+16562C>A) c.*299G>T (n.*299G>T) c.1474G>T (p.Val492Leu) c.276+16562C>A (n.276+16562C>A) c.*220+5982G>T (n.*220+5982G>T) c.598G>T (p.Val200Leu) c.625G>T (p.Val209Leu) c.1480G>T (p.Val494Leu) c.1294G>T (p.Val432Leu) c.1213G>T (p.Val405Leu) c.919G>T (p.Val307Leu) c.1300G>T (p.Val434Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688242C= | CA1248601047 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G= (p.Val519=) c.948-103G= (n.948-103G=) c.3441+16562C= (n.3441+16562C=) c.*299G= (n.*299G=) c.1474G= (p.Val492=) c.276+16562C= (n.276+16562C=) c.*220+5982G= (n.*220+5982G=) c.598G= (p.Val200=) c.625G= (p.Val209=) c.1480G= (p.Val494=) c.1294G= (p.Val432=) c.1213G= (p.Val405=) c.919G= (p.Val307=) c.1300G= (p.Val434=) | |
2 | g.48688242C>G | CA346746284 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G>C (p.Val519Leu) c.948-103G>C (n.948-103G>C) c.3441+16562C>G (n.3441+16562C>G) c.*299G>C (n.*299G>C) c.1474G>C (p.Val492Leu) c.276+16562C>G (n.276+16562C>G) c.*220+5982G>C (n.*220+5982G>C) c.598G>C (p.Val200Leu) c.625G>C (p.Val209Leu) c.1480G>C (p.Val494Leu) c.1294G>C (p.Val432Leu) c.1213G>C (p.Val405Leu) c.919G>C (p.Val307Leu) c.1300G>C (p.Val434Leu) | |
2 | g.48688242C>T | CA346746287 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1555G>A (p.Val519Met) c.948-103G>A (n.948-103G>A) c.3441+16562C>T (n.3441+16562C>T) c.*299G>A (n.*299G>A) c.1474G>A (p.Val492Met) c.276+16562C>T (n.276+16562C>T) c.*220+5982G>A (n.*220+5982G>A) c.598G>A (p.Val200Met) c.625G>A (p.Val209Met) c.1480G>A (p.Val494Met) c.1294G>A (p.Val432Met) c.1213G>A (p.Val405Met) c.919G>A (p.Val307Met) c.1300G>A (p.Val434Met) | |
2 | g.48688243A>C | CA346746296 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1554T>G (p.Asp518Glu) c.948-104T>G (n.948-104T>G) c.3441+16563A>C (n.3441+16563A>C) c.*298T>G (n.*298T>G) c.1473T>G (p.Asp491Glu) c.276+16563A>C (n.276+16563A>C) c.*220+5981T>G (n.*220+5981T>G) c.597T>G (p.Asp199Glu) c.624T>G (p.Asp208Glu) c.1479T>G (p.Asp493Glu) c.1293T>G (p.Asp431Glu) c.1212T>G (p.Asp404Glu) c.918T>G (p.Asp306Glu) c.1299T>G (p.Asp433Glu) | |
2 | g.48688243A>G | CA426125437 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1554T>C (p.Asp518=) c.948-104T>C (n.948-104T>C) c.3441+16563A>G (n.3441+16563A>G) c.*298T>C (n.*298T>C) c.1473T>C (p.Asp491=) c.276+16563A>G (n.276+16563A>G) c.*220+5981T>C (n.*220+5981T>C) c.597T>C (p.Asp199=) c.624T>C (p.Asp208=) c.1479T>C (p.Asp493=) c.1293T>C (p.Asp431=) c.1212T>C (p.Asp404=) c.918T>C (p.Asp306=) c.1299T>C (p.Asp433=) | |
2 | g.48688243A>T | CA346746290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1554T>A (p.Asp518Glu) c.948-104T>A (n.948-104T>A) c.3441+16563A>T (n.3441+16563A>T) c.*298T>A (n.*298T>A) c.1473T>A (p.Asp491Glu) c.276+16563A>T (n.276+16563A>T) c.*220+5981T>A (n.*220+5981T>A) c.597T>A (p.Asp199Glu) c.624T>A (p.Asp208Glu) c.1479T>A (p.Asp493Glu) c.1293T>A (p.Asp431Glu) c.1212T>A (p.Asp404Glu) c.918T>A (p.Asp306Glu) c.1299T>A (p.Asp433Glu) | |
2 | g.48688244T>A | CA46752910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A>T (p.Asp518Val) c.948-105A>T (n.948-105A>T) c.3441+16564T>A (n.3441+16564T>A) c.*297A>T (n.*297A>T) c.1472A>T (p.Asp491Val) c.276+16564T>A (n.276+16564T>A) c.*220+5980A>T (n.*220+5980A>T) c.596A>T (p.Asp199Val) c.623A>T (p.Asp208Val) c.1478A>T (p.Asp493Val) c.1292A>T (p.Asp431Val) c.1211A>T (p.Asp404Val) c.917A>T (p.Asp306Val) c.1298A>T (p.Asp433Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688244T>C | CA346746302 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A>G (p.Asp518Gly) c.948-105A>G (n.948-105A>G) c.3441+16564T>C (n.3441+16564T>C) c.*297A>G (n.*297A>G) c.1472A>G (p.Asp491Gly) c.276+16564T>C (n.276+16564T>C) c.*220+5980A>G (n.*220+5980A>G) c.596A>G (p.Asp199Gly) c.623A>G (p.Asp208Gly) c.1478A>G (p.Asp493Gly) c.1292A>G (p.Asp431Gly) c.1211A>G (p.Asp404Gly) c.917A>G (p.Asp306Gly) c.1298A>G (p.Asp433Gly) | |
2 | g.48688244T>G | CA346746316 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A>C (p.Asp518Ala) c.948-105A>C (n.948-105A>C) c.3441+16564T>G (n.3441+16564T>G) c.*297A>C (n.*297A>C) c.1472A>C (p.Asp491Ala) c.276+16564T>G (n.276+16564T>G) c.*220+5980A>C (n.*220+5980A>C) c.596A>C (p.Asp199Ala) c.623A>C (p.Asp208Ala) c.1478A>C (p.Asp493Ala) c.1292A>C (p.Asp431Ala) c.1211A>C (p.Asp404Ala) c.917A>C (p.Asp306Ala) c.1298A>C (p.Asp433Ala) | |
2 | g.48688244T= | CA1248601048 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1553A= (p.Asp518=) c.948-105A= (n.948-105A=) c.3441+16564T= (n.3441+16564T=) c.*297A= (n.*297A=) c.1472A= (p.Asp491=) c.276+16564T= (n.276+16564T=) c.*220+5980A= (n.*220+5980A=) c.596A= (p.Asp199=) c.623A= (p.Asp208=) c.1478A= (p.Asp493=) c.1292A= (p.Asp431=) c.1211A= (p.Asp404=) c.917A= (p.Asp306=) c.1298A= (p.Asp433=) | |
2 | g.48688245C>A | CA346746319 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1552G>T (p.Asp518Tyr) c.948-106G>T (n.948-106G>T) c.3441+16565C>A (n.3441+16565C>A) c.*296G>T (n.*296G>T) c.1471G>T (p.Asp491Tyr) c.276+16565C>A (n.276+16565C>A) c.*220+5979G>T (n.*220+5979G>T) c.595G>T (p.Asp199Tyr) c.622G>T (p.Asp208Tyr) c.1477G>T (p.Asp493Tyr) c.1291G>T (p.Asp431Tyr) c.1210G>T (p.Asp404Tyr) c.916G>T (p.Asp306Tyr) c.1297G>T (p.Asp433Tyr) | |
2 | g.48688245C>G | CA346746322 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1552G>C (p.Asp518His) c.948-106G>C (n.948-106G>C) c.3441+16565C>G (n.3441+16565C>G) c.*296G>C (n.*296G>C) c.1471G>C (p.Asp491His) c.276+16565C>G (n.276+16565C>G) c.*220+5979G>C (n.*220+5979G>C) c.595G>C (p.Asp199His) c.622G>C (p.Asp208His) c.1477G>C (p.Asp493His) c.1291G>C (p.Asp431His) c.1210G>C (p.Asp404His) c.916G>C (p.Asp306His) c.1297G>C (p.Asp433His) | |
2 | g.48688245C>T | CA346746325 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1552G>A (p.Asp518Asn) c.948-106G>A (n.948-106G>A) c.3441+16565C>T (n.3441+16565C>T) c.*296G>A (n.*296G>A) c.1471G>A (p.Asp491Asn) c.276+16565C>T (n.276+16565C>T) c.*220+5979G>A (n.*220+5979G>A) c.595G>A (p.Asp199Asn) c.622G>A (p.Asp208Asn) c.1477G>A (p.Asp493Asn) c.1291G>A (p.Asp431Asn) c.1210G>A (p.Asp404Asn) c.916G>A (p.Asp306Asn) c.1297G>A (p.Asp433Asn) | |
2 | g.48688246C>A | CA346746327 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1551G>T (p.Met517Ile) c.948-107G>T (n.948-107G>T) c.3441+16566C>A (n.3441+16566C>A) c.*295G>T (n.*295G>T) c.1470G>T (p.Met490Ile) c.276+16566C>A (n.276+16566C>A) c.*220+5978G>T (n.*220+5978G>T) c.594G>T (p.Met198Ile) c.621G>T (p.Met207Ile) c.1476G>T (p.Met492Ile) c.1290G>T (p.Met430Ile) c.1209G>T (p.Met403Ile) c.915G>T (p.Met305Ile) c.1296G>T (p.Met432Ile) | |
2 | g.48688246C>G | CA346746329 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1551G>C (p.Met517Ile) c.948-107G>C (n.948-107G>C) c.3441+16566C>G (n.3441+16566C>G) c.*295G>C (n.*295G>C) c.1470G>C (p.Met490Ile) c.276+16566C>G (n.276+16566C>G) c.*220+5978G>C (n.*220+5978G>C) c.594G>C (p.Met198Ile) c.621G>C (p.Met207Ile) c.1476G>C (p.Met492Ile) c.1290G>C (p.Met430Ile) c.1209G>C (p.Met403Ile) c.915G>C (p.Met305Ile) c.1296G>C (p.Met432Ile) | |
2 | g.48688246C>T | CA346746336 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1551G>A (p.Met517Ile) c.948-107G>A (n.948-107G>A) c.3441+16566C>T (n.3441+16566C>T) c.*295G>A (n.*295G>A) c.1470G>A (p.Met490Ile) c.276+16566C>T (n.276+16566C>T) c.*220+5978G>A (n.*220+5978G>A) c.594G>A (p.Met198Ile) c.621G>A (p.Met207Ile) c.1476G>A (p.Met492Ile) c.1290G>A (p.Met430Ile) c.1209G>A (p.Met403Ile) c.915G>A (p.Met305Ile) c.1296G>A (p.Met432Ile) | gnomAD v4 |
2 | g.48688247A= | CA1248601049 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T= (p.Met517=) c.948-108T= (n.948-108T=) c.3441+16567A= (n.3441+16567A=) c.*294T= (n.*294T=) c.1469T= (p.Met490=) c.276+16567A= (n.276+16567A=) c.*220+5977T= (n.*220+5977T=) c.593T= (p.Met198=) c.620T= (p.Met207=) c.1475T= (p.Met492=) c.1289T= (p.Met430=) c.1208T= (p.Met403=) c.914T= (p.Met305=) c.1295T= (p.Met432=) | |
2 | g.48688247A>C | CA346746339 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T>G (p.Met517Arg) c.948-108T>G (n.948-108T>G) c.3441+16567A>C (n.3441+16567A>C) c.*294T>G (n.*294T>G) c.1469T>G (p.Met490Arg) c.276+16567A>C (n.276+16567A>C) c.*220+5977T>G (n.*220+5977T>G) c.593T>G (p.Met198Arg) c.620T>G (p.Met207Arg) c.1475T>G (p.Met492Arg) c.1289T>G (p.Met430Arg) c.1208T>G (p.Met403Arg) c.914T>G (p.Met305Arg) c.1295T>G (p.Met432Arg) | |
2 | g.48688247A>G | CA346746342 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T>C (p.Met517Thr) c.948-108T>C (n.948-108T>C) c.3441+16567A>G (n.3441+16567A>G) c.*294T>C (n.*294T>C) c.1469T>C (p.Met490Thr) c.276+16567A>G (n.276+16567A>G) c.*220+5977T>C (n.*220+5977T>C) c.593T>C (p.Met198Thr) c.620T>C (p.Met207Thr) c.1475T>C (p.Met492Thr) c.1289T>C (p.Met430Thr) c.1208T>C (p.Met403Thr) c.914T>C (p.Met305Thr) c.1295T>C (p.Met432Thr) | dbSNP |
2 | g.48688247A>T | CA346746343 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1550T>A (p.Met517Lys) c.948-108T>A (n.948-108T>A) c.3441+16567A>T (n.3441+16567A>T) c.*294T>A (n.*294T>A) c.1469T>A (p.Met490Lys) c.276+16567A>T (n.276+16567A>T) c.*220+5977T>A (n.*220+5977T>A) c.593T>A (p.Met198Lys) c.620T>A (p.Met207Lys) c.1475T>A (p.Met492Lys) c.1289T>A (p.Met430Lys) c.1208T>A (p.Met403Lys) c.914T>A (p.Met305Lys) c.1295T>A (p.Met432Lys) | |
2 | g.48688248T>A | CA346746349 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1549A>T (p.Met517Leu) c.948-109A>T (n.948-109A>T) c.3441+16568T>A (n.3441+16568T>A) c.*293A>T (n.*293A>T) c.1468A>T (p.Met490Leu) c.276+16568T>A (n.276+16568T>A) c.*220+5976A>T (n.*220+5976A>T) c.592A>T (p.Met198Leu) c.619A>T (p.Met207Leu) c.1474A>T (p.Met492Leu) c.1288A>T (p.Met430Leu) c.1207A>T (p.Met403Leu) c.913A>T (p.Met305Leu) c.1294A>T (p.Met432Leu) | |
2 | g.48688248T>C | CA346746352 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1549A>G (p.Met517Val) c.948-109A>G (n.948-109A>G) c.3441+16568T>C (n.3441+16568T>C) c.*293A>G (n.*293A>G) c.1468A>G (p.Met490Val) c.276+16568T>C (n.276+16568T>C) c.*220+5976A>G (n.*220+5976A>G) c.592A>G (p.Met198Val) c.619A>G (p.Met207Val) c.1474A>G (p.Met492Val) c.1288A>G (p.Met430Val) c.1207A>G (p.Met403Val) c.913A>G (p.Met305Val) c.1294A>G (p.Met432Val) | gnomAD v4 |
2 | g.48688248T>G | CA346746347 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1549A>C (p.Met517Leu) c.948-109A>C (n.948-109A>C) c.3441+16568T>G (n.3441+16568T>G) c.*293A>C (n.*293A>C) c.1468A>C (p.Met490Leu) c.276+16568T>G (n.276+16568T>G) c.*220+5976A>C (n.*220+5976A>C) c.592A>C (p.Met198Leu) c.619A>C (p.Met207Leu) c.1474A>C (p.Met492Leu) c.1288A>C (p.Met430Leu) c.1207A>C (p.Met403Leu) c.913A>C (p.Met305Leu) c.1294A>C (p.Met432Leu) | |
2 | g.48688249G>A | CA426125452 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C>T (p.Pro516=) c.948-110C>T (n.948-110C>T) c.3441+16569G>A (n.3441+16569G>A) c.*292C>T (n.*292C>T) c.1467C>T (p.Pro489=) c.276+16569G>A (n.276+16569G>A) c.*220+5975C>T (n.*220+5975C>T) c.591C>T (p.Pro197=) c.618C>T (p.Pro206=) c.1473C>T (p.Pro491=) c.1287C>T (p.Pro429=) c.1206C>T (p.Pro402=) c.912C>T (p.Pro304=) c.1293C>T (p.Pro431=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688249G>C | CA426125461 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C>G (p.Pro516=) c.948-110C>G (n.948-110C>G) c.3441+16569G>C (n.3441+16569G>C) c.*292C>G (n.*292C>G) c.1467C>G (p.Pro489=) c.276+16569G>C (n.276+16569G>C) c.*220+5975C>G (n.*220+5975C>G) c.591C>G (p.Pro197=) c.618C>G (p.Pro206=) c.1473C>G (p.Pro491=) c.1287C>G (p.Pro429=) c.1206C>G (p.Pro402=) c.912C>G (p.Pro304=) c.1293C>G (p.Pro431=) | |
2 | g.48688249G= | CA1248601050 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C= (p.Pro516=) c.948-110C= (n.948-110C=) c.3441+16569G= (n.3441+16569G=) c.*292C= (n.*292C=) c.1467C= (p.Pro489=) c.276+16569G= (n.276+16569G=) c.*220+5975C= (n.*220+5975C=) c.591C= (p.Pro197=) c.618C= (p.Pro206=) c.1473C= (p.Pro491=) c.1287C= (p.Pro429=) c.1206C= (p.Pro402=) c.912C= (p.Pro304=) c.1293C= (p.Pro431=) | |
2 | g.48688249G>T | CA426125454 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1548C>A (p.Pro516=) c.948-110C>A (n.948-110C>A) c.3441+16569G>T (n.3441+16569G>T) c.*292C>A (n.*292C>A) c.1467C>A (p.Pro489=) c.276+16569G>T (n.276+16569G>T) c.*220+5975C>A (n.*220+5975C>A) c.591C>A (p.Pro197=) c.618C>A (p.Pro206=) c.1473C>A (p.Pro491=) c.1287C>A (p.Pro429=) c.1206C>A (p.Pro402=) c.912C>A (p.Pro304=) c.1293C>A (p.Pro431=) | |
2 | g.48688250G>A | CA346746356 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1547C>T (p.Pro516Leu) c.948-111C>T (n.948-111C>T) c.3441+16570G>A (n.3441+16570G>A) c.*291C>T (n.*291C>T) c.1466C>T (p.Pro489Leu) c.276+16570G>A (n.276+16570G>A) c.*220+5974C>T (n.*220+5974C>T) c.590C>T (p.Pro197Leu) c.617C>T (p.Pro206Leu) c.1472C>T (p.Pro491Leu) c.1286C>T (p.Pro429Leu) c.1205C>T (p.Pro402Leu) c.911C>T (p.Pro304Leu) c.1292C>T (p.Pro431Leu) | gnomAD v4 |
2 | g.48688250G>C | CA346746358 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1547C>G (p.Pro516Arg) c.948-111C>G (n.948-111C>G) c.3441+16570G>C (n.3441+16570G>C) c.*291C>G (n.*291C>G) c.1466C>G (p.Pro489Arg) c.276+16570G>C (n.276+16570G>C) c.*220+5974C>G (n.*220+5974C>G) c.590C>G (p.Pro197Arg) c.617C>G (p.Pro206Arg) c.1472C>G (p.Pro491Arg) c.1286C>G (p.Pro429Arg) c.1205C>G (p.Pro402Arg) c.911C>G (p.Pro304Arg) c.1292C>G (p.Pro431Arg) | gnomAD v4 |
2 | g.48688250G>T | CA346746360 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1547C>A (p.Pro516His) c.948-111C>A (n.948-111C>A) c.3441+16570G>T (n.3441+16570G>T) c.*291C>A (n.*291C>A) c.1466C>A (p.Pro489His) c.276+16570G>T (n.276+16570G>T) c.*220+5974C>A (n.*220+5974C>A) c.590C>A (p.Pro197His) c.617C>A (p.Pro206His) c.1472C>A (p.Pro491His) c.1286C>A (p.Pro429His) c.1205C>A (p.Pro402His) c.911C>A (p.Pro304His) c.1292C>A (p.Pro431His) | |
2 | g.48688251G>A | CA346746362 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1546C>T (p.Pro516Ser) c.948-112C>T (n.948-112C>T) c.3441+16571G>A (n.3441+16571G>A) c.*290C>T (n.*290C>T) c.1465C>T (p.Pro489Ser) c.276+16571G>A (n.276+16571G>A) c.*220+5973C>T (n.*220+5973C>T) c.589C>T (p.Pro197Ser) c.616C>T (p.Pro206Ser) c.1471C>T (p.Pro491Ser) c.1285C>T (p.Pro429Ser) c.1204C>T (p.Pro402Ser) c.910C>T (p.Pro304Ser) c.1291C>T (p.Pro431Ser) | gnomAD v4 |
2 | g.48688251G>C | CA346746364 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1546C>G (p.Pro516Ala) c.948-112C>G (n.948-112C>G) c.3441+16571G>C (n.3441+16571G>C) c.*290C>G (n.*290C>G) c.1465C>G (p.Pro489Ala) c.276+16571G>C (n.276+16571G>C) c.*220+5973C>G (n.*220+5973C>G) c.589C>G (p.Pro197Ala) c.616C>G (p.Pro206Ala) c.1471C>G (p.Pro491Ala) c.1285C>G (p.Pro429Ala) c.1204C>G (p.Pro402Ala) c.910C>G (p.Pro304Ala) c.1291C>G (p.Pro431Ala) | |
2 | g.48688251G>T | CA346746367 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1546C>A (p.Pro516Thr) c.948-112C>A (n.948-112C>A) c.3441+16571G>T (n.3441+16571G>T) c.*290C>A (n.*290C>A) c.1465C>A (p.Pro489Thr) c.276+16571G>T (n.276+16571G>T) c.*220+5973C>A (n.*220+5973C>A) c.589C>A (p.Pro197Thr) c.616C>A (p.Pro206Thr) c.1471C>A (p.Pro491Thr) c.1285C>A (p.Pro429Thr) c.1204C>A (p.Pro402Thr) c.910C>A (p.Pro304Thr) c.1291C>A (p.Pro431Thr) | |
2 | g.48688252G>A | CA426125467 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1545C>T (p.Phe515=) c.948-113C>T (n.948-113C>T) c.3441+16572G>A (n.3441+16572G>A) c.*289C>T (n.*289C>T) c.1464C>T (p.Phe488=) c.276+16572G>A (n.276+16572G>A) c.*220+5972C>T (n.*220+5972C>T) c.588C>T (p.Phe196=) c.615C>T (p.Phe205=) c.1470C>T (p.Phe490=) c.1284C>T (p.Phe428=) c.1203C>T (p.Phe401=) c.909C>T (p.Phe303=) c.1290C>T (p.Phe430=) | |
2 | g.48688252G>C | CA346746371 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1545C>G (p.Phe515Leu) c.948-113C>G (n.948-113C>G) c.3441+16572G>C (n.3441+16572G>C) c.*289C>G (n.*289C>G) c.1464C>G (p.Phe488Leu) c.276+16572G>C (n.276+16572G>C) c.*220+5972C>G (n.*220+5972C>G) c.588C>G (p.Phe196Leu) c.615C>G (p.Phe205Leu) c.1470C>G (p.Phe490Leu) c.1284C>G (p.Phe428Leu) c.1203C>G (p.Phe401Leu) c.909C>G (p.Phe303Leu) c.1290C>G (p.Phe430Leu) | |
2 | g.48688252G>T | CA346746372 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1545C>A (p.Phe515Leu) c.948-113C>A (n.948-113C>A) c.3441+16572G>T (n.3441+16572G>T) c.*289C>A (n.*289C>A) c.1464C>A (p.Phe488Leu) c.276+16572G>T (n.276+16572G>T) c.*220+5972C>A (n.*220+5972C>A) c.588C>A (p.Phe196Leu) c.615C>A (p.Phe205Leu) c.1470C>A (p.Phe490Leu) c.1284C>A (p.Phe428Leu) c.1203C>A (p.Phe401Leu) c.909C>A (p.Phe303Leu) c.1290C>A (p.Phe430Leu) | |
2 | g.48688253A>C | CA346746375 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1544T>G (p.Phe515Cys) c.948-114T>G (n.948-114T>G) c.3441+16573A>C (n.3441+16573A>C) c.*288T>G (n.*288T>G) c.1463T>G (p.Phe488Cys) c.276+16573A>C (n.276+16573A>C) c.*220+5971T>G (n.*220+5971T>G) c.587T>G (p.Phe196Cys) c.614T>G (p.Phe205Cys) c.1469T>G (p.Phe490Cys) c.1283T>G (p.Phe428Cys) c.1202T>G (p.Phe401Cys) c.908T>G (p.Phe303Cys) c.1289T>G (p.Phe430Cys) | |
2 | g.48688253A>G | CA346746376 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1544T>C (p.Phe515Ser) c.948-114T>C (n.948-114T>C) c.3441+16573A>G (n.3441+16573A>G) c.*288T>C (n.*288T>C) c.1463T>C (p.Phe488Ser) c.276+16573A>G (n.276+16573A>G) c.*220+5971T>C (n.*220+5971T>C) c.587T>C (p.Phe196Ser) c.614T>C (p.Phe205Ser) c.1469T>C (p.Phe490Ser) c.1283T>C (p.Phe428Ser) c.1202T>C (p.Phe401Ser) c.908T>C (p.Phe303Ser) c.1289T>C (p.Phe430Ser) | gnomAD v4 |
2 | g.48688253A>T | CA346746377 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1544T>A (p.Phe515Tyr) c.948-114T>A (n.948-114T>A) c.3441+16573A>T (n.3441+16573A>T) c.*288T>A (n.*288T>A) c.1463T>A (p.Phe488Tyr) c.276+16573A>T (n.276+16573A>T) c.*220+5971T>A (n.*220+5971T>A) c.587T>A (p.Phe196Tyr) c.614T>A (p.Phe205Tyr) c.1469T>A (p.Phe490Tyr) c.1283T>A (p.Phe428Tyr) c.1202T>A (p.Phe401Tyr) c.908T>A (p.Phe303Tyr) c.1289T>A (p.Phe430Tyr) | gnomAD v4 |
2 | g.48688254A>C | CA346746379 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1543T>G (p.Phe515Val) c.948-115T>G (n.948-115T>G) c.3441+16574A>C (n.3441+16574A>C) c.*287T>G (n.*287T>G) c.1462T>G (p.Phe488Val) c.276+16574A>C (n.276+16574A>C) c.*220+5970T>G (n.*220+5970T>G) c.586T>G (p.Phe196Val) c.613T>G (p.Phe205Val) c.1468T>G (p.Phe490Val) c.1282T>G (p.Phe428Val) c.1201T>G (p.Phe401Val) c.907T>G (p.Phe303Val) c.1288T>G (p.Phe430Val) | |
2 | g.48688254A>G | CA346746380 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1543T>C (p.Phe515Leu) c.948-115T>C (n.948-115T>C) c.3441+16574A>G (n.3441+16574A>G) c.*287T>C (n.*287T>C) c.1462T>C (p.Phe488Leu) c.276+16574A>G (n.276+16574A>G) c.*220+5970T>C (n.*220+5970T>C) c.586T>C (p.Phe196Leu) c.613T>C (p.Phe205Leu) c.1468T>C (p.Phe490Leu) c.1282T>C (p.Phe428Leu) c.1201T>C (p.Phe401Leu) c.907T>C (p.Phe303Leu) c.1288T>C (p.Phe430Leu) | |
2 | g.48688254A>T | CA346746388 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1543T>A (p.Phe515Ile) c.948-115T>A (n.948-115T>A) c.3441+16574A>T (n.3441+16574A>T) c.*287T>A (n.*287T>A) c.1462T>A (p.Phe488Ile) c.276+16574A>T (n.276+16574A>T) c.*220+5970T>A (n.*220+5970T>A) c.586T>A (p.Phe196Ile) c.613T>A (p.Phe205Ile) c.1468T>A (p.Phe490Ile) c.1282T>A (p.Phe428Ile) c.1201T>A (p.Phe401Ile) c.907T>A (p.Phe303Ile) c.1288T>A (p.Phe430Ile) | |
2 | g.48688255G>A | CA426125478 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C>T (p.Cys514=) c.948-116C>T (n.948-116C>T) c.3441+16575G>A (n.3441+16575G>A) c.*286C>T (n.*286C>T) c.1461C>T (p.Cys487=) c.276+16575G>A (n.276+16575G>A) c.*220+5969C>T (n.*220+5969C>T) c.585C>T (p.Cys195=) c.612C>T (p.Cys204=) c.1467C>T (p.Cys489=) c.1281C>T (p.Cys427=) c.1200C>T (p.Cys400=) c.906C>T (p.Cys302=) c.1287C>T (p.Cys429=) | dbSNP COSMIC |
2 | g.48688255G>C | CA346746395 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C>G (p.Cys514Trp) c.948-116C>G (n.948-116C>G) c.3441+16575G>C (n.3441+16575G>C) c.*286C>G (n.*286C>G) c.1461C>G (p.Cys487Trp) c.276+16575G>C (n.276+16575G>C) c.*220+5969C>G (n.*220+5969C>G) c.585C>G (p.Cys195Trp) c.612C>G (p.Cys204Trp) c.1467C>G (p.Cys489Trp) c.1281C>G (p.Cys427Trp) c.1200C>G (p.Cys400Trp) c.906C>G (p.Cys302Trp) c.1287C>G (p.Cys429Trp) | |
2 | g.48688255G= | CA1248601051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C= (p.Cys514=) c.948-116C= (n.948-116C=) c.3441+16575G= (n.3441+16575G=) c.*286C= (n.*286C=) c.1461C= (p.Cys487=) c.276+16575G= (n.276+16575G=) c.*220+5969C= (n.*220+5969C=) c.585C= (p.Cys195=) c.612C= (p.Cys204=) c.1467C= (p.Cys489=) c.1281C= (p.Cys427=) c.1200C= (p.Cys400=) c.906C= (p.Cys302=) c.1287C= (p.Cys429=) | |
2 | g.48688255G>T | CA346746392 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1542C>A (p.Cys514Ter) c.948-116C>A (n.948-116C>A) c.3441+16575G>T (n.3441+16575G>T) c.*286C>A (n.*286C>A) c.1461C>A (p.Cys487Ter) c.276+16575G>T (n.276+16575G>T) c.*220+5969C>A (n.*220+5969C>A) c.585C>A (p.Cys195Ter) c.612C>A (p.Cys204Ter) c.1467C>A (p.Cys489Ter) c.1281C>A (p.Cys427Ter) c.1200C>A (p.Cys400Ter) c.906C>A (p.Cys302Ter) c.1287C>A (p.Cys429Ter) | |
2 | g.48688256C>A | CA346746402 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1541G>T (p.Cys514Phe) c.948-117G>T (n.948-117G>T) c.3441+16576C>A (n.3441+16576C>A) c.*285G>T (n.*285G>T) c.1460G>T (p.Cys487Phe) c.276+16576C>A (n.276+16576C>A) c.*220+5968G>T (n.*220+5968G>T) c.584G>T (p.Cys195Phe) c.611G>T (p.Cys204Phe) c.1466G>T (p.Cys489Phe) c.1280G>T (p.Cys427Phe) c.1199G>T (p.Cys400Phe) c.905G>T (p.Cys302Phe) c.1286G>T (p.Cys429Phe) | |
2 | g.48688256C>G | CA346746408 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1541G>C (p.Cys514Ser) c.948-117G>C (n.948-117G>C) c.3441+16576C>G (n.3441+16576C>G) c.*285G>C (n.*285G>C) c.1460G>C (p.Cys487Ser) c.276+16576C>G (n.276+16576C>G) c.*220+5968G>C (n.*220+5968G>C) c.584G>C (p.Cys195Ser) c.611G>C (p.Cys204Ser) c.1466G>C (p.Cys489Ser) c.1280G>C (p.Cys427Ser) c.1199G>C (p.Cys400Ser) c.905G>C (p.Cys302Ser) c.1286G>C (p.Cys429Ser) | gnomAD v4 |
2 | g.48688256C>T | CA346746404 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1541G>A (p.Cys514Tyr) c.948-117G>A (n.948-117G>A) c.3441+16576C>T (n.3441+16576C>T) c.*285G>A (n.*285G>A) c.1460G>A (p.Cys487Tyr) c.276+16576C>T (n.276+16576C>T) c.*220+5968G>A (n.*220+5968G>A) c.584G>A (p.Cys195Tyr) c.611G>A (p.Cys204Tyr) c.1466G>A (p.Cys489Tyr) c.1280G>A (p.Cys427Tyr) c.1199G>A (p.Cys400Tyr) c.905G>A (p.Cys302Tyr) c.1286G>A (p.Cys429Tyr) | |
2 | g.48688257A>C | CA346746412 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1540T>G (p.Cys514Gly) c.948-118T>G (n.948-118T>G) c.3441+16577A>C (n.3441+16577A>C) c.*284T>G (n.*284T>G) c.1459T>G (p.Cys487Gly) c.276+16577A>C (n.276+16577A>C) c.*220+5967T>G (n.*220+5967T>G) c.583T>G (p.Cys195Gly) c.610T>G (p.Cys204Gly) c.1465T>G (p.Cys489Gly) c.1279T>G (p.Cys427Gly) c.1198T>G (p.Cys400Gly) c.904T>G (p.Cys302Gly) c.1285T>G (p.Cys429Gly) | gnomAD v4 |
2 | g.48688257A>G | CA346746416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1540T>C (p.Cys514Arg) c.948-118T>C (n.948-118T>C) c.3441+16577A>G (n.3441+16577A>G) c.*284T>C (n.*284T>C) c.1459T>C (p.Cys487Arg) c.276+16577A>G (n.276+16577A>G) c.*220+5967T>C (n.*220+5967T>C) c.583T>C (p.Cys195Arg) c.610T>C (p.Cys204Arg) c.1465T>C (p.Cys489Arg) c.1279T>C (p.Cys427Arg) c.1198T>C (p.Cys400Arg) c.904T>C (p.Cys302Arg) c.1285T>C (p.Cys429Arg) | |
2 | g.48688257A>T | CA346746418 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1540T>A (p.Cys514Ser) c.948-118T>A (n.948-118T>A) c.3441+16577A>T (n.3441+16577A>T) c.*284T>A (n.*284T>A) c.1459T>A (p.Cys487Ser) c.276+16577A>T (n.276+16577A>T) c.*220+5967T>A (n.*220+5967T>A) c.583T>A (p.Cys195Ser) c.610T>A (p.Cys204Ser) c.1465T>A (p.Cys489Ser) c.1279T>A (p.Cys427Ser) c.1198T>A (p.Cys400Ser) c.904T>A (p.Cys302Ser) c.1285T>A (p.Cys429Ser) | |
2 | g.48688258A>C | CA346746421 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1539T>G (p.Ile513Met) c.948-119T>G (n.948-119T>G) c.3441+16578A>C (n.3441+16578A>C) c.*283T>G (n.*283T>G) c.1458T>G (p.Ile486Met) c.276+16578A>C (n.276+16578A>C) c.*220+5966T>G (n.*220+5966T>G) c.582T>G (p.Ile194Met) c.609T>G (p.Ile203Met) c.1464T>G (p.Ile488Met) c.1278T>G (p.Ile426Met) c.1197T>G (p.Ile399Met) c.903T>G (p.Ile301Met) c.1284T>G (p.Ile428Met) | |
2 | g.48688258A>G | CA426125497 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1539T>C (p.Ile513=) c.948-119T>C (n.948-119T>C) c.3441+16578A>G (n.3441+16578A>G) c.*283T>C (n.*283T>C) c.1458T>C (p.Ile486=) c.276+16578A>G (n.276+16578A>G) c.*220+5966T>C (n.*220+5966T>C) c.582T>C (p.Ile194=) c.609T>C (p.Ile203=) c.1464T>C (p.Ile488=) c.1278T>C (p.Ile426=) c.1197T>C (p.Ile399=) c.903T>C (p.Ile301=) c.1284T>C (p.Ile428=) | |
2 | g.48688258A>T | CA426125492 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1539T>A (p.Ile513=) c.948-119T>A (n.948-119T>A) c.3441+16578A>T (n.3441+16578A>T) c.*283T>A (n.*283T>A) c.1458T>A (p.Ile486=) c.276+16578A>T (n.276+16578A>T) c.*220+5966T>A (n.*220+5966T>A) c.582T>A (p.Ile194=) c.609T>A (p.Ile203=) c.1464T>A (p.Ile488=) c.1278T>A (p.Ile426=) c.1197T>A (p.Ile399=) c.903T>A (p.Ile301=) c.1284T>A (p.Ile428=) | gnomAD v4 |