Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.48688092T>ACA346745091GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>T (p.Lys569Ter)
c.*17A>T (n.*17A>T)
c.3441+16412T>A (n.3441+16412T>A)
c.*449A>T (n.*449A>T)
c.1624A>T (p.Lys542Ter)
c.276+16412T>A (n.276+16412T>A)
c.*220+6132A>T (n.*220+6132A>T)
c.748A>T (p.Lys250Ter)
c.775A>T (p.Lys259Ter)
c.1630A>T (p.Lys544Ter)
c.1444A>T (p.Lys482Ter)
c.1363A>T (p.Lys455Ter)
c.1069A>T (p.Lys357Ter)
c.1450A>T (p.Lys484Ter)
2g.48688092T>CCA346745092GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>G (p.Lys569Glu)
c.*17A>G (n.*17A>G)
c.3441+16412T>C (n.3441+16412T>C)
c.*449A>G (n.*449A>G)
c.1624A>G (p.Lys542Glu)
c.276+16412T>C (n.276+16412T>C)
c.*220+6132A>G (n.*220+6132A>G)
c.748A>G (p.Lys250Glu)
c.775A>G (p.Lys259Glu)
c.1630A>G (p.Lys544Glu)
c.1444A>G (p.Lys482Glu)
c.1363A>G (p.Lys455Glu)
c.1069A>G (p.Lys357Glu)
c.1450A>G (p.Lys484Glu)
2g.48688092T>GCA346745095GTF2A1L,LHCGR,STON1-GTF2A1Lc.1705A>C (p.Lys569Gln)
c.*17A>C (n.*17A>C)
c.3441+16412T>G (n.3441+16412T>G)
c.*449A>C (n.*449A>C)
c.1624A>C (p.Lys542Gln)
c.276+16412T>G (n.276+16412T>G)
c.*220+6132A>C (n.*220+6132A>C)
c.748A>C (p.Lys250Gln)
c.775A>C (p.Lys259Gln)
c.1630A>C (p.Lys544Gln)
c.1444A>C (p.Lys482Gln)
c.1363A>C (p.Lys455Gln)
c.1069A>C (p.Lys357Gln)
c.1450A>C (p.Lys484Gln)
2g.48688093A=CA1248600986GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T= (p.Ala568=)
c.*16T= (n.*16T=)
c.3441+16413A= (n.3441+16413A=)
c.*448T= (n.*448T=)
c.1623T= (p.Ala541=)
c.276+16413A= (n.276+16413A=)
c.*220+6131T= (n.*220+6131T=)
c.747T= (p.Ala249=)
c.774T= (p.Ala258=)
c.1629T= (p.Ala543=)
c.1443T= (p.Ala481=)
c.1362T= (p.Ala454=)
c.1068T= (p.Ala356=)
c.1449T= (p.Ala483=)
2g.48688093A>CCA426124960GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>G (p.Ala568=)
c.*16T>G (n.*16T>G)
c.3441+16413A>C (n.3441+16413A>C)
c.*448T>G (n.*448T>G)
c.1623T>G (p.Ala541=)
c.276+16413A>C (n.276+16413A>C)
c.*220+6131T>G (n.*220+6131T>G)
c.747T>G (p.Ala249=)
c.774T>G (p.Ala258=)
c.1629T>G (p.Ala543=)
c.1443T>G (p.Ala481=)
c.1362T>G (p.Ala454=)
c.1068T>G (p.Ala356=)
c.1449T>G (p.Ala483=)
2g.48688093A>GCA426124961GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>C (p.Ala568=)
c.*16T>C (n.*16T>C)
c.3441+16413A>G (n.3441+16413A>G)
c.*448T>C (n.*448T>C)
c.1623T>C (p.Ala541=)
c.276+16413A>G (n.276+16413A>G)
c.*220+6131T>C (n.*220+6131T>C)
c.747T>C (p.Ala249=)
c.774T>C (p.Ala258=)
c.1629T>C (p.Ala543=)
c.1443T>C (p.Ala481=)
c.1362T>C (p.Ala454=)
c.1068T>C (p.Ala356=)
c.1449T>C (p.Ala483=)
2g.48688093A>TCA426124962GTF2A1L,LHCGR,STON1-GTF2A1Lc.1704T>A (p.Ala568=)
c.*16T>A (n.*16T>A)
c.3441+16413A>T (n.3441+16413A>T)
c.*448T>A (n.*448T>A)
c.1623T>A (p.Ala541=)
c.276+16413A>T (n.276+16413A>T)
c.*220+6131T>A (n.*220+6131T>A)
c.747T>A (p.Ala249=)
c.774T>A (p.Ala258=)
c.1629T>A (p.Ala543=)
c.1443T>A (p.Ala481=)
c.1362T>A (p.Ala454=)
c.1068T>A (p.Ala356=)
c.1449T>A (p.Ala483=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688094G>ACA123933GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>T (p.Ala568Val)
c.*15C>T (n.*15C>T)
c.3441+16414G>A (n.3441+16414G>A)
c.*447C>T (n.*447C>T)
c.1622C>T (p.Ala541Val)
c.276+16414G>A (n.276+16414G>A)
c.*220+6130C>T (n.*220+6130C>T)
c.746C>T (p.Ala249Val)
c.773C>T (p.Ala258Val)
c.1628C>T (p.Ala543Val)
c.1442C>T (p.Ala481Val)
c.1361C>T (p.Ala454Val)
c.1067C>T (p.Ala356Val)
c.1448C>T (p.Ala483Val)
 ClinVar dbSNP
2g.48688094G>CCA346745111GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>G (p.Ala568Gly)
c.*15C>G (n.*15C>G)
c.3441+16414G>C (n.3441+16414G>C)
c.*447C>G (n.*447C>G)
c.1622C>G (p.Ala541Gly)
c.276+16414G>C (n.276+16414G>C)
c.*220+6130C>G (n.*220+6130C>G)
c.746C>G (p.Ala249Gly)
c.773C>G (p.Ala258Gly)
c.1628C>G (p.Ala543Gly)
c.1442C>G (p.Ala481Gly)
c.1361C>G (p.Ala454Gly)
c.1067C>G (p.Ala356Gly)
c.1448C>G (p.Ala483Gly)
2g.48688094G=CA1248600987GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C= (p.Ala568=)
c.*15C= (n.*15C=)
c.3441+16414G= (n.3441+16414G=)
c.*447C= (n.*447C=)
c.1622C= (p.Ala541=)
c.276+16414G= (n.276+16414G=)
c.*220+6130C= (n.*220+6130C=)
c.746C= (p.Ala249=)
c.773C= (p.Ala258=)
c.1628C= (p.Ala543=)
c.1442C= (p.Ala481=)
c.1361C= (p.Ala454=)
c.1067C= (p.Ala356=)
c.1448C= (p.Ala483=)
2g.48688094G>TCA346745104GTF2A1L,LHCGR,STON1-GTF2A1Lc.1703C>A (p.Ala568Asp)
c.*15C>A (n.*15C>A)
c.3441+16414G>T (n.3441+16414G>T)
c.*447C>A (n.*447C>A)
c.1622C>A (p.Ala541Asp)
c.276+16414G>T (n.276+16414G>T)
c.*220+6130C>A (n.*220+6130C>A)
c.746C>A (p.Ala249Asp)
c.773C>A (p.Ala258Asp)
c.1628C>A (p.Ala543Asp)
c.1442C>A (p.Ala481Asp)
c.1361C>A (p.Ala454Asp)
c.1067C>A (p.Ala356Asp)
c.1448C>A (p.Ala483Asp)
 dbSNP gnomAD v3 gnomAD v4
2g.48688095C>ACA346745114GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>T (p.Ala568Ser)
c.*14G>T (n.*14G>T)
c.3441+16415C>A (n.3441+16415C>A)
c.*446G>T (n.*446G>T)
c.1621G>T (p.Ala541Ser)
c.276+16415C>A (n.276+16415C>A)
c.*220+6129G>T (n.*220+6129G>T)
c.745G>T (p.Ala249Ser)
c.772G>T (p.Ala258Ser)
c.1627G>T (p.Ala543Ser)
c.1441G>T (p.Ala481Ser)
c.1360G>T (p.Ala454Ser)
c.1066G>T (p.Ala356Ser)
c.1447G>T (p.Ala483Ser)
2g.48688095C>GCA346745118GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>C (p.Ala568Pro)
c.*14G>C (n.*14G>C)
c.3441+16415C>G (n.3441+16415C>G)
c.*446G>C (n.*446G>C)
c.1621G>C (p.Ala541Pro)
c.276+16415C>G (n.276+16415C>G)
c.*220+6129G>C (n.*220+6129G>C)
c.745G>C (p.Ala249Pro)
c.772G>C (p.Ala258Pro)
c.1627G>C (p.Ala543Pro)
c.1441G>C (p.Ala481Pro)
c.1360G>C (p.Ala454Pro)
c.1066G>C (p.Ala356Pro)
c.1447G>C (p.Ala483Pro)
2g.48688095C>TCA346745121GTF2A1L,LHCGR,STON1-GTF2A1Lc.1702G>A (p.Ala568Thr)
c.*14G>A (n.*14G>A)
c.3441+16415C>T (n.3441+16415C>T)
c.*446G>A (n.*446G>A)
c.1621G>A (p.Ala541Thr)
c.276+16415C>T (n.276+16415C>T)
c.*220+6129G>A (n.*220+6129G>A)
c.745G>A (p.Ala249Thr)
c.772G>A (p.Ala258Thr)
c.1627G>A (p.Ala543Thr)
c.1441G>A (p.Ala481Thr)
c.1360G>A (p.Ala454Thr)
c.1066G>A (p.Ala356Thr)
c.1447G>A (p.Ala483Thr)
2g.48688096A=CA1248600988GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T= (p.Ile567=)
c.*13T= (n.*13T=)
c.3441+16416A= (n.3441+16416A=)
c.*445T= (n.*445T=)
c.1620T= (p.Ile540=)
c.276+16416A= (n.276+16416A=)
c.*220+6128T= (n.*220+6128T=)
c.744T= (p.Ile248=)
c.771T= (p.Ile257=)
c.1626T= (p.Ile542=)
c.1440T= (p.Ile480=)
c.1359T= (p.Ile453=)
c.1065T= (p.Ile355=)
c.1446T= (p.Ile482=)
2g.48688096A>CCA346745124GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>G (p.Ile567Met)
c.*13T>G (n.*13T>G)
c.3441+16416A>C (n.3441+16416A>C)
c.*445T>G (n.*445T>G)
c.1620T>G (p.Ile540Met)
c.276+16416A>C (n.276+16416A>C)
c.*220+6128T>G (n.*220+6128T>G)
c.744T>G (p.Ile248Met)
c.771T>G (p.Ile257Met)
c.1626T>G (p.Ile542Met)
c.1440T>G (p.Ile480Met)
c.1359T>G (p.Ile453Met)
c.1065T>G (p.Ile355Met)
c.1446T>G (p.Ile482Met)
 gnomAD v4
2g.48688096A>GCA426124965GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>C (p.Ile567=)
c.*13T>C (n.*13T>C)
c.3441+16416A>G (n.3441+16416A>G)
c.*445T>C (n.*445T>C)
c.1620T>C (p.Ile540=)
c.276+16416A>G (n.276+16416A>G)
c.*220+6128T>C (n.*220+6128T>C)
c.744T>C (p.Ile248=)
c.771T>C (p.Ile257=)
c.1626T>C (p.Ile542=)
c.1440T>C (p.Ile480=)
c.1359T>C (p.Ile453=)
c.1065T>C (p.Ile355=)
c.1446T>C (p.Ile482=)
2g.48688096A>TCA46752825GTF2A1L,LHCGR,STON1-GTF2A1Lc.1701T>A (p.Ile567=)
c.*13T>A (n.*13T>A)
c.3441+16416A>T (n.3441+16416A>T)
c.*445T>A (n.*445T>A)
c.1620T>A (p.Ile540=)
c.276+16416A>T (n.276+16416A>T)
c.*220+6128T>A (n.*220+6128T>A)
c.744T>A (p.Ile248=)
c.771T>A (p.Ile257=)
c.1626T>A (p.Ile542=)
c.1440T>A (p.Ile480=)
c.1359T>A (p.Ile453=)
c.1065T>A (p.Ile355=)
c.1446T>A (p.Ile482=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688097A>CCA346745131GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>G (p.Ile567Ser)
c.*12T>G (n.*12T>G)
c.3441+16417A>C (n.3441+16417A>C)
c.*444T>G (n.*444T>G)
c.1619T>G (p.Ile540Ser)
c.276+16417A>C (n.276+16417A>C)
c.*220+6127T>G (n.*220+6127T>G)
c.743T>G (p.Ile248Ser)
c.770T>G (p.Ile257Ser)
c.1625T>G (p.Ile542Ser)
c.1439T>G (p.Ile480Ser)
c.1358T>G (p.Ile453Ser)
c.1064T>G (p.Ile355Ser)
c.1445T>G (p.Ile482Ser)
2g.48688097A>GCA346745134GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>C (p.Ile567Thr)
c.*12T>C (n.*12T>C)
c.3441+16417A>G (n.3441+16417A>G)
c.*444T>C (n.*444T>C)
c.1619T>C (p.Ile540Thr)
c.276+16417A>G (n.276+16417A>G)
c.*220+6127T>C (n.*220+6127T>C)
c.743T>C (p.Ile248Thr)
c.770T>C (p.Ile257Thr)
c.1625T>C (p.Ile542Thr)
c.1439T>C (p.Ile480Thr)
c.1358T>C (p.Ile453Thr)
c.1064T>C (p.Ile355Thr)
c.1445T>C (p.Ile482Thr)
2g.48688097A>TCA346745136GTF2A1L,LHCGR,STON1-GTF2A1Lc.1700T>A (p.Ile567Asn)
c.*12T>A (n.*12T>A)
c.3441+16417A>T (n.3441+16417A>T)
c.*444T>A (n.*444T>A)
c.1619T>A (p.Ile540Asn)
c.276+16417A>T (n.276+16417A>T)
c.*220+6127T>A (n.*220+6127T>A)
c.743T>A (p.Ile248Asn)
c.770T>A (p.Ile257Asn)
c.1625T>A (p.Ile542Asn)
c.1439T>A (p.Ile480Asn)
c.1358T>A (p.Ile453Asn)
c.1064T>A (p.Ile355Asn)
c.1445T>A (p.Ile482Asn)
2g.48688098T>ACA346745141GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A>T (p.Ile567Phe)
c.*11A>T (n.*11A>T)
c.3441+16418T>A (n.3441+16418T>A)
c.*443A>T (n.*443A>T)
c.1618A>T (p.Ile540Phe)
c.276+16418T>A (n.276+16418T>A)
c.*220+6126A>T (n.*220+6126A>T)
c.742A>T (p.Ile248Phe)
c.769A>T (p.Ile257Phe)
c.1624A>T (p.Ile542Phe)
c.1438A>T (p.Ile480Phe)
c.1357A>T (p.Ile453Phe)
c.1063A>T (p.Ile355Phe)
c.1444A>T (p.Ile482Phe)
 gnomAD v4
2g.48688098T>CCA346745144GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A>G (p.Ile567Val)
c.*11A>G (n.*11A>G)
c.3441+16418T>C (n.3441+16418T>C)
c.*443A>G (n.*443A>G)
c.1618A>G (p.Ile540Val)
c.276+16418T>C (n.276+16418T>C)
c.*220+6126A>G (n.*220+6126A>G)
c.742A>G (p.Ile248Val)
c.769A>G (p.Ile257Val)
c.1624A>G (p.Ile542Val)
c.1438A>G (p.Ile480Val)
c.1357A>G (p.Ile453Val)
c.1063A>G (p.Ile355Val)
c.1444A>G (p.Ile482Val)
 dbSNP
2g.48688098T>GCA346745149GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A>C (p.Ile567Leu)
c.*11A>C (n.*11A>C)
c.3441+16418T>G (n.3441+16418T>G)
c.*443A>C (n.*443A>C)
c.1618A>C (p.Ile540Leu)
c.276+16418T>G (n.276+16418T>G)
c.*220+6126A>C (n.*220+6126A>C)
c.742A>C (p.Ile248Leu)
c.769A>C (p.Ile257Leu)
c.1624A>C (p.Ile542Leu)
c.1438A>C (p.Ile480Leu)
c.1357A>C (p.Ile453Leu)
c.1063A>C (p.Ile355Leu)
c.1444A>C (p.Ile482Leu)
2g.48688098T=CA1248600990GTF2A1L,LHCGR,STON1-GTF2A1Lc.1699A= (p.Ile567=)
c.*11A= (n.*11A=)
c.3441+16418T= (n.3441+16418T=)
c.*443A= (n.*443A=)
c.1618A= (p.Ile540=)
c.276+16418T= (n.276+16418T=)
c.*220+6126A= (n.*220+6126A=)
c.742A= (p.Ile248=)
c.769A= (p.Ile257=)
c.1624A= (p.Ile542=)
c.1438A= (p.Ile480=)
c.1357A= (p.Ile453=)
c.1063A= (p.Ile355=)
c.1444A= (p.Ile482=)
2g.48688098_48688099delinsTCCA1248600989GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698_1699delinsGA (p.Lys566=)
c.*10_*11delinsGA (n.*10_*11delinsGA)
c.3441+16418_3441+16419delinsTC (n.3441+16418_3441+16419delinsTC)
c.*442_*443delinsGA (n.*442_*443delinsGA)
c.1617_1618delinsGA (p.Lys539=)
c.276+16418_276+16419delinsTC (n.276+16418_276+16419delinsTC)
c.*220+6125_*220+6126delinsGA (n.*220+6125_*220+6126delinsGA)
c.741_742delinsGA (p.Lys247=)
c.768_769delinsGA (p.Lys256=)
c.1623_1624delinsGA (p.Lys541=)
c.1437_1438delinsGA (p.Lys479=)
c.1356_1357delinsGA (p.Lys452=)
c.1062_1063delinsGA (p.Lys354=)
c.1443_1444delinsGA (p.Lys481=)
2g.48688099delCA532706159GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698del (p.Ile567LeufsTer?)
c.*10del (n.*10del)
c.3441+16419del (n.3441+16419del)
c.*442del (n.*442del)
c.1617del (p.Ile540LeufsTer?)
c.276+16419del (n.276+16419del)
c.*220+6125del (n.*220+6125del)
c.741del (p.Ile248LeufsTer?)
c.768del (p.Ile257LeufsTer?)
c.1623del (p.Ile542LeufsTer?)
c.1437del (p.Ile480LeufsTer?)
c.1356del (p.Ile453LeufsTer?)
c.1062del (p.Ile355LeufsTer?)
c.1443del (p.Ile482LeufsTer?)
 dbSNP gnomAD v2
2g.48688099C>ACA346745150GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G>T (p.Lys566Asn)
c.*10G>T (n.*10G>T)
c.3441+16419C>A (n.3441+16419C>A)
c.*442G>T (n.*442G>T)
c.1617G>T (p.Lys539Asn)
c.276+16419C>A (n.276+16419C>A)
c.*220+6125G>T (n.*220+6125G>T)
c.741G>T (p.Lys247Asn)
c.768G>T (p.Lys256Asn)
c.1623G>T (p.Lys541Asn)
c.1437G>T (p.Lys479Asn)
c.1356G>T (p.Lys452Asn)
c.1062G>T (p.Lys354Asn)
c.1443G>T (p.Lys481Asn)
2g.48688099C=CA1248600991GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G= (p.Lys566=)
c.*10G= (n.*10G=)
c.3441+16419C= (n.3441+16419C=)
c.*442G= (n.*442G=)
c.1617G= (p.Lys539=)
c.276+16419C= (n.276+16419C=)
c.*220+6125G= (n.*220+6125G=)
c.741G= (p.Lys247=)
c.768G= (p.Lys256=)
c.1623G= (p.Lys541=)
c.1437G= (p.Lys479=)
c.1356G= (p.Lys452=)
c.1062G= (p.Lys354=)
c.1443G= (p.Lys481=)
2g.48688099C>GCA346745153GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G>C (p.Lys566Asn)
c.*10G>C (n.*10G>C)
c.3441+16419C>G (n.3441+16419C>G)
c.*442G>C (n.*442G>C)
c.1617G>C (p.Lys539Asn)
c.276+16419C>G (n.276+16419C>G)
c.*220+6125G>C (n.*220+6125G>C)
c.741G>C (p.Lys247Asn)
c.768G>C (p.Lys256Asn)
c.1623G>C (p.Lys541Asn)
c.1437G>C (p.Lys479Asn)
c.1356G>C (p.Lys452Asn)
c.1062G>C (p.Lys354Asn)
c.1443G>C (p.Lys481Asn)
2g.48688099C>TCA426124969GTF2A1L,LHCGR,STON1-GTF2A1Lc.1698G>A (p.Lys566=)
c.*10G>A (n.*10G>A)
c.3441+16419C>T (n.3441+16419C>T)
c.*442G>A (n.*442G>A)
c.1617G>A (p.Lys539=)
c.276+16419C>T (n.276+16419C>T)
c.*220+6125G>A (n.*220+6125G>A)
c.741G>A (p.Lys247=)
c.768G>A (p.Lys256=)
c.1623G>A (p.Lys541=)
c.1437G>A (p.Lys479=)
c.1356G>A (p.Lys452=)
c.1062G>A (p.Lys354=)
c.1443G>A (p.Lys481=)
 dbSNP gnomAD v2 gnomAD v4
2g.48688100T>ACA346745158GTF2A1L,LHCGR,STON1-GTF2A1Lc.1697A>T (p.Lys566Met)
c.*9A>T (n.*9A>T)
c.3441+16420T>A (n.3441+16420T>A)
c.*441A>T (n.*441A>T)
c.1616A>T (p.Lys539Met)
c.276+16420T>A (n.276+16420T>A)
c.*220+6124A>T (n.*220+6124A>T)
c.740A>T (p.Lys247Met)
c.767A>T (p.Lys256Met)
c.1622A>T (p.Lys541Met)
c.1436A>T (p.Lys479Met)
c.1355A>T (p.Lys452Met)
c.1061A>T (p.Lys354Met)
c.1442A>T (p.Lys481Met)
2g.48688100T>CCA346745166GTF2A1L,LHCGR,STON1-GTF2A1Lc.1697A>G (p.Lys566Arg)
c.*9A>G (n.*9A>G)
c.3441+16420T>C (n.3441+16420T>C)
c.*441A>G (n.*441A>G)
c.1616A>G (p.Lys539Arg)
c.276+16420T>C (n.276+16420T>C)
c.*220+6124A>G (n.*220+6124A>G)
c.740A>G (p.Lys247Arg)
c.767A>G (p.Lys256Arg)
c.1622A>G (p.Lys541Arg)
c.1436A>G (p.Lys479Arg)
c.1355A>G (p.Lys452Arg)
c.1061A>G (p.Lys354Arg)
c.1442A>G (p.Lys481Arg)
2g.48688100T>GCA346745161GTF2A1L,LHCGR,STON1-GTF2A1Lc.1697A>C (p.Lys566Thr)
c.*9A>C (n.*9A>C)
c.3441+16420T>G (n.3441+16420T>G)
c.*441A>C (n.*441A>C)
c.1616A>C (p.Lys539Thr)
c.276+16420T>G (n.276+16420T>G)
c.*220+6124A>C (n.*220+6124A>C)
c.740A>C (p.Lys247Thr)
c.767A>C (p.Lys256Thr)
c.1622A>C (p.Lys541Thr)
c.1436A>C (p.Lys479Thr)
c.1355A>C (p.Lys452Thr)
c.1061A>C (p.Lys354Thr)
c.1442A>C (p.Lys481Thr)
2g.48688101T>ACA346745168GTF2A1L,LHCGR,STON1-GTF2A1Lc.1696A>T (p.Lys566Ter)
c.*8A>T (n.*8A>T)
c.3441+16421T>A (n.3441+16421T>A)
c.*440A>T (n.*440A>T)
c.1615A>T (p.Lys539Ter)
c.276+16421T>A (n.276+16421T>A)
c.*220+6123A>T (n.*220+6123A>T)
c.739A>T (p.Lys247Ter)
c.766A>T (p.Lys256Ter)
c.1621A>T (p.Lys541Ter)
c.1435A>T (p.Lys479Ter)
c.1354A>T (p.Lys452Ter)
c.1060A>T (p.Lys354Ter)
c.1441A>T (p.Lys481Ter)
2g.48688101T>CCA346745169GTF2A1L,LHCGR,STON1-GTF2A1Lc.1696A>G (p.Lys566Glu)
c.*8A>G (n.*8A>G)
c.3441+16421T>C (n.3441+16421T>C)
c.*440A>G (n.*440A>G)
c.1615A>G (p.Lys539Glu)
c.276+16421T>C (n.276+16421T>C)
c.*220+6123A>G (n.*220+6123A>G)
c.739A>G (p.Lys247Glu)
c.766A>G (p.Lys256Glu)
c.1621A>G (p.Lys541Glu)
c.1435A>G (p.Lys479Glu)
c.1354A>G (p.Lys452Glu)
c.1060A>G (p.Lys354Glu)
c.1441A>G (p.Lys481Glu)
2g.48688101T>GCA346745170GTF2A1L,LHCGR,STON1-GTF2A1Lc.1696A>C (p.Lys566Gln)
c.*8A>C (n.*8A>C)
c.3441+16421T>G (n.3441+16421T>G)
c.*440A>C (n.*440A>C)
c.1615A>C (p.Lys539Gln)
c.276+16421T>G (n.276+16421T>G)
c.*220+6123A>C (n.*220+6123A>C)
c.739A>C (p.Lys247Gln)
c.766A>C (p.Lys256Gln)
c.1621A>C (p.Lys541Gln)
c.1435A>C (p.Lys479Gln)
c.1354A>C (p.Lys452Gln)
c.1060A>C (p.Lys354Gln)
c.1441A>C (p.Lys481Gln)
2g.48688102T>ACA1653001GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A>T (p.Thr565=)
c.*7A>T (n.*7A>T)
c.3441+16422T>A (n.3441+16422T>A)
c.*439A>T (n.*439A>T)
c.1614A>T (p.Thr538=)
c.276+16422T>A (n.276+16422T>A)
c.*220+6122A>T (n.*220+6122A>T)
c.738A>T (p.Thr246=)
c.765A>T (p.Thr255=)
c.1620A>T (p.Thr540=)
c.1434A>T (p.Thr478=)
c.1353A>T (p.Thr451=)
c.1059A>T (p.Thr353=)
c.1440A>T (p.Thr480=)
 dbSNP ExAC
2g.48688102T>CCA426124976GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A>G (p.Thr565=)
c.*7A>G (n.*7A>G)
c.3441+16422T>C (n.3441+16422T>C)
c.*439A>G (n.*439A>G)
c.1614A>G (p.Thr538=)
c.276+16422T>C (n.276+16422T>C)
c.*220+6122A>G (n.*220+6122A>G)
c.738A>G (p.Thr246=)
c.765A>G (p.Thr255=)
c.1620A>G (p.Thr540=)
c.1434A>G (p.Thr478=)
c.1353A>G (p.Thr451=)
c.1059A>G (p.Thr353=)
c.1440A>G (p.Thr480=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.48688102T>GCA426124977GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A>C (p.Thr565=)
c.*7A>C (n.*7A>C)
c.3441+16422T>G (n.3441+16422T>G)
c.*439A>C (n.*439A>C)
c.1614A>C (p.Thr538=)
c.276+16422T>G (n.276+16422T>G)
c.*220+6122A>C (n.*220+6122A>C)
c.738A>C (p.Thr246=)
c.765A>C (p.Thr255=)
c.1620A>C (p.Thr540=)
c.1434A>C (p.Thr478=)
c.1353A>C (p.Thr451=)
c.1059A>C (p.Thr353=)
c.1440A>C (p.Thr480=)
2g.48688102T=CA1248600992GTF2A1L,LHCGR,STON1-GTF2A1Lc.1695A= (p.Thr565=)
c.*7A= (n.*7A=)
c.3441+16422T= (n.3441+16422T=)
c.*439A= (n.*439A=)
c.1614A= (p.Thr538=)
c.276+16422T= (n.276+16422T=)
c.*220+6122A= (n.*220+6122A=)
c.738A= (p.Thr246=)
c.765A= (p.Thr255=)
c.1620A= (p.Thr540=)
c.1434A= (p.Thr478=)
c.1353A= (p.Thr451=)
c.1059A= (p.Thr353=)
c.1440A= (p.Thr480=)
2g.48688103G>ACA346745173GTF2A1L,LHCGR,STON1-GTF2A1Lc.1694C>T (p.Thr565Ile)
c.*6C>T (n.*6C>T)
c.3441+16423G>A (n.3441+16423G>A)
c.*438C>T (n.*438C>T)
c.1613C>T (p.Thr538Ile)
c.276+16423G>A (n.276+16423G>A)
c.*220+6121C>T (n.*220+6121C>T)
c.737C>T (p.Thr246Ile)
c.764C>T (p.Thr255Ile)
c.1619C>T (p.Thr540Ile)
c.1433C>T (p.Thr478Ile)
c.1352C>T (p.Thr451Ile)
c.1058C>T (p.Thr353Ile)
c.1439C>T (p.Thr480Ile)
2g.48688103G>CCA346745177GTF2A1L,LHCGR,STON1-GTF2A1Lc.1694C>G (p.Thr565Arg)
c.*6C>G (n.*6C>G)
c.3441+16423G>C (n.3441+16423G>C)
c.*438C>G (n.*438C>G)
c.1613C>G (p.Thr538Arg)
c.276+16423G>C (n.276+16423G>C)
c.*220+6121C>G (n.*220+6121C>G)
c.737C>G (p.Thr246Arg)
c.764C>G (p.Thr255Arg)
c.1619C>G (p.Thr540Arg)
c.1433C>G (p.Thr478Arg)
c.1352C>G (p.Thr451Arg)
c.1058C>G (p.Thr353Arg)
c.1439C>G (p.Thr480Arg)
 gnomAD v4
2g.48688103G>TCA346745178GTF2A1L,LHCGR,STON1-GTF2A1Lc.1694C>A (p.Thr565Lys)
c.*6C>A (n.*6C>A)
c.3441+16423G>T (n.3441+16423G>T)
c.*438C>A (n.*438C>A)
c.1613C>A (p.Thr538Lys)
c.276+16423G>T (n.276+16423G>T)
c.*220+6121C>A (n.*220+6121C>A)
c.737C>A (p.Thr246Lys)
c.764C>A (p.Thr255Lys)
c.1619C>A (p.Thr540Lys)
c.1433C>A (p.Thr478Lys)
c.1352C>A (p.Thr451Lys)
c.1058C>A (p.Thr353Lys)
c.1439C>A (p.Thr480Lys)
 gnomAD v4
2g.48688104T>ACA346745179GTF2A1L,LHCGR,STON1-GTF2A1Lc.1693A>T (p.Thr565Ser)
c.*5A>T (n.*5A>T)
c.3441+16424T>A (n.3441+16424T>A)
c.*437A>T (n.*437A>T)
c.1612A>T (p.Thr538Ser)
c.276+16424T>A (n.276+16424T>A)
c.*220+6120A>T (n.*220+6120A>T)
c.736A>T (p.Thr246Ser)
c.763A>T (p.Thr255Ser)
c.1618A>T (p.Thr540Ser)
c.1432A>T (p.Thr478Ser)
c.1351A>T (p.Thr451Ser)
c.1057A>T (p.Thr353Ser)
c.1438A>T (p.Thr480Ser)
2g.48688104T>CCA346745180GTF2A1L,LHCGR,STON1-GTF2A1Lc.1693A>G (p.Thr565Ala)
c.*5A>G (n.*5A>G)
c.3441+16424T>C (n.3441+16424T>C)
c.*437A>G (n.*437A>G)
c.1612A>G (p.Thr538Ala)
c.276+16424T>C (n.276+16424T>C)
c.*220+6120A>G (n.*220+6120A>G)
c.736A>G (p.Thr246Ala)
c.763A>G (p.Thr255Ala)
c.1618A>G (p.Thr540Ala)
c.1432A>G (p.Thr478Ala)
c.1351A>G (p.Thr451Ala)
c.1057A>G (p.Thr353Ala)
c.1438A>G (p.Thr480Ala)
2g.48688104T>GCA346745182GTF2A1L,LHCGR,STON1-GTF2A1Lc.1693A>C (p.Thr565Pro)
c.*5A>C (n.*5A>C)
c.3441+16424T>G (n.3441+16424T>G)
c.*437A>C (n.*437A>C)
c.1612A>C (p.Thr538Pro)
c.276+16424T>G (n.276+16424T>G)
c.*220+6120A>C (n.*220+6120A>C)
c.736A>C (p.Thr246Pro)
c.763A>C (p.Thr255Pro)
c.1618A>C (p.Thr540Pro)
c.1432A>C (p.Thr478Pro)
c.1351A>C (p.Thr451Pro)
c.1057A>C (p.Thr353Pro)
c.1438A>C (p.Thr480Pro)
2g.48688105A>CCA346745188GTF2A1L,LHCGR,STON1-GTF2A1Lc.1692T>G (p.Asp564Glu)
c.*4T>G (n.*4T>G)
c.3441+16425A>C (n.3441+16425A>C)
c.*436T>G (n.*436T>G)
c.1611T>G (p.Asp537Glu)
c.276+16425A>C (n.276+16425A>C)
c.*220+6119T>G (n.*220+6119T>G)
c.735T>G (p.Asp245Glu)
c.762T>G (p.Asp254Glu)
c.1617T>G (p.Asp539Glu)
c.1431T>G (p.Asp477Glu)
c.1350T>G (p.Asp450Glu)
c.1056T>G (p.Asp352Glu)
c.1437T>G (p.Asp479Glu)
2g.48688105A>GCA426124981GTF2A1L,LHCGR,STON1-GTF2A1Lc.1692T>C (p.Asp564=)
c.*4T>C (n.*4T>C)
c.3441+16425A>G (n.3441+16425A>G)
c.*436T>C (n.*436T>C)
c.1611T>C (p.Asp537=)
c.276+16425A>G (n.276+16425A>G)
c.*220+6119T>C (n.*220+6119T>C)
c.735T>C (p.Asp245=)
c.762T>C (p.Asp254=)
c.1617T>C (p.Asp539=)
c.1431T>C (p.Asp477=)
c.1350T>C (p.Asp450=)
c.1056T>C (p.Asp352=)
c.1437T>C (p.Asp479=)
 gnomAD v4
2g.48688105A>TCA346745185GTF2A1L,LHCGR,STON1-GTF2A1Lc.1692T>A (p.Asp564Glu)
c.*4T>A (n.*4T>A)
c.3441+16425A>T (n.3441+16425A>T)
c.*436T>A (n.*436T>A)
c.1611T>A (p.Asp537Glu)
c.276+16425A>T (n.276+16425A>T)
c.*220+6119T>A (n.*220+6119T>A)
c.735T>A (p.Asp245Glu)
c.762T>A (p.Asp254Glu)
c.1617T>A (p.Asp539Glu)
c.1431T>A (p.Asp477Glu)
c.1350T>A (p.Asp450Glu)
c.1056T>A (p.Asp352Glu)
c.1437T>A (p.Asp479Glu)

Number of alleles fetched