| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48687982T>A | CA346744379 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1815A>T (p.Lys605Asn) c.*127A>T (n.*127A>T) c.3441+16302T>A (n.3441+16302T>A) c.*559A>T (n.*559A>T) c.1734A>T (p.Lys578Asn) c.276+16302T>A (n.276+16302T>A) c.*220+6242A>T (n.*220+6242A>T) c.858A>T (p.Lys286Asn) c.885A>T (p.Lys295Asn) c.1740A>T (p.Lys580Asn) c.1554A>T (p.Lys518Asn) c.1473A>T (p.Lys491Asn) c.1179A>T (p.Lys393Asn) c.1560A>T (p.Lys520Asn) | |
| 2 | g.48687982T>C | CA426125667 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1815A>G (p.Lys605=) c.*127A>G (n.*127A>G) c.3441+16302T>C (n.3441+16302T>C) c.*559A>G (n.*559A>G) c.1734A>G (p.Lys578=) c.276+16302T>C (n.276+16302T>C) c.*220+6242A>G (n.*220+6242A>G) c.858A>G (p.Lys286=) c.885A>G (p.Lys295=) c.1740A>G (p.Lys580=) c.1554A>G (p.Lys518=) c.1473A>G (p.Lys491=) c.1179A>G (p.Lys393=) c.1560A>G (p.Lys520=) | |
| 2 | g.48687982T>G | CA346744382 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1815A>C (p.Lys605Asn) c.*127A>C (n.*127A>C) c.3441+16302T>G (n.3441+16302T>G) c.*559A>C (n.*559A>C) c.1734A>C (p.Lys578Asn) c.276+16302T>G (n.276+16302T>G) c.*220+6242A>C (n.*220+6242A>C) c.858A>C (p.Lys286Asn) c.885A>C (p.Lys295Asn) c.1740A>C (p.Lys580Asn) c.1554A>C (p.Lys518Asn) c.1473A>C (p.Lys491Asn) c.1179A>C (p.Lys393Asn) c.1560A>C (p.Lys520Asn) | COSMIC |
| 2 | g.48687983T>A | CA346744384 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1814A>T (p.Lys605Ile) c.*126A>T (n.*126A>T) c.3441+16303T>A (n.3441+16303T>A) c.*558A>T (n.*558A>T) c.1733A>T (p.Lys578Ile) c.276+16303T>A (n.276+16303T>A) c.*220+6241A>T (n.*220+6241A>T) c.857A>T (p.Lys286Ile) c.884A>T (p.Lys295Ile) c.1739A>T (p.Lys580Ile) c.1553A>T (p.Lys518Ile) c.1472A>T (p.Lys491Ile) c.1178A>T (p.Lys393Ile) c.1559A>T (p.Lys520Ile) | |
| 2 | g.48687983T>C | CA346744387 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1814A>G (p.Lys605Arg) c.*126A>G (n.*126A>G) c.3441+16303T>C (n.3441+16303T>C) c.*558A>G (n.*558A>G) c.1733A>G (p.Lys578Arg) c.276+16303T>C (n.276+16303T>C) c.*220+6241A>G (n.*220+6241A>G) c.857A>G (p.Lys286Arg) c.884A>G (p.Lys295Arg) c.1739A>G (p.Lys580Arg) c.1553A>G (p.Lys518Arg) c.1472A>G (p.Lys491Arg) c.1178A>G (p.Lys393Arg) c.1559A>G (p.Lys520Arg) | |
| 2 | g.48687983T>G | CA346744391 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1814A>C (p.Lys605Thr) c.*126A>C (n.*126A>C) c.3441+16303T>G (n.3441+16303T>G) c.*558A>C (n.*558A>C) c.1733A>C (p.Lys578Thr) c.276+16303T>G (n.276+16303T>G) c.*220+6241A>C (n.*220+6241A>C) c.857A>C (p.Lys286Thr) c.884A>C (p.Lys295Thr) c.1739A>C (p.Lys580Thr) c.1553A>C (p.Lys518Thr) c.1472A>C (p.Lys491Thr) c.1178A>C (p.Lys393Thr) c.1559A>C (p.Lys520Thr) | |
| 2 | g.48687984T>A | CA346744403 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A>T (p.Lys605Ter) c.*125A>T (n.*125A>T) c.3441+16304T>A (n.3441+16304T>A) c.*557A>T (n.*557A>T) c.1732A>T (p.Lys578Ter) c.276+16304T>A (n.276+16304T>A) c.*220+6240A>T (n.*220+6240A>T) c.856A>T (p.Lys286Ter) c.883A>T (p.Lys295Ter) c.1738A>T (p.Lys580Ter) c.1552A>T (p.Lys518Ter) c.1471A>T (p.Lys491Ter) c.1177A>T (p.Lys393Ter) c.1558A>T (p.Lys520Ter) | gnomAD v4 |
| 2 | g.48687984T>C | CA346744401 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A>G (p.Lys605Glu) c.*125A>G (n.*125A>G) c.3441+16304T>C (n.3441+16304T>C) c.*557A>G (n.*557A>G) c.1732A>G (p.Lys578Glu) c.276+16304T>C (n.276+16304T>C) c.*220+6240A>G (n.*220+6240A>G) c.856A>G (p.Lys286Glu) c.883A>G (p.Lys295Glu) c.1738A>G (p.Lys580Glu) c.1552A>G (p.Lys518Glu) c.1471A>G (p.Lys491Glu) c.1177A>G (p.Lys393Glu) c.1558A>G (p.Lys520Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.48687984T>G | CA346744395 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A>C (p.Lys605Gln) c.*125A>C (n.*125A>C) c.3441+16304T>G (n.3441+16304T>G) c.*557A>C (n.*557A>C) c.1732A>C (p.Lys578Gln) c.276+16304T>G (n.276+16304T>G) c.*220+6240A>C (n.*220+6240A>C) c.856A>C (p.Lys286Gln) c.883A>C (p.Lys295Gln) c.1738A>C (p.Lys580Gln) c.1552A>C (p.Lys518Gln) c.1471A>C (p.Lys491Gln) c.1177A>C (p.Lys393Gln) c.1558A>C (p.Lys520Gln) | |
| 2 | g.48687984T= | CA1248600934 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1813A= (p.Lys605=) c.*125A= (n.*125A=) c.3441+16304T= (n.3441+16304T=) c.*557A= (n.*557A=) c.1732A= (p.Lys578=) c.276+16304T= (n.276+16304T=) c.*220+6240A= (n.*220+6240A=) c.856A= (p.Lys286=) c.883A= (p.Lys295=) c.1738A= (p.Lys580=) c.1552A= (p.Lys518=) c.1471A= (p.Lys491=) c.1177A= (p.Lys393=) c.1558A= (p.Lys520=) | |
| 2 | g.48687985A>C | CA426125680 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1812T>G (p.Ser604=) c.*124T>G (n.*124T>G) c.3441+16305A>C (n.3441+16305A>C) c.*556T>G (n.*556T>G) c.1731T>G (p.Ser577=) c.276+16305A>C (n.276+16305A>C) c.*220+6239T>G (n.*220+6239T>G) c.855T>G (p.Ser285=) c.882T>G (p.Ser294=) c.1737T>G (p.Ser579=) c.1551T>G (p.Ser517=) c.1470T>G (p.Ser490=) c.1176T>G (p.Ser392=) c.1557T>G (p.Ser519=) | |
| 2 | g.48687985A>G | CA426125681 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1812T>C (p.Ser604=) c.*124T>C (n.*124T>C) c.3441+16305A>G (n.3441+16305A>G) c.*556T>C (n.*556T>C) c.1731T>C (p.Ser577=) c.276+16305A>G (n.276+16305A>G) c.*220+6239T>C (n.*220+6239T>C) c.855T>C (p.Ser285=) c.882T>C (p.Ser294=) c.1737T>C (p.Ser579=) c.1551T>C (p.Ser517=) c.1470T>C (p.Ser490=) c.1176T>C (p.Ser392=) c.1557T>C (p.Ser519=) | |
| 2 | g.48687985A>T | CA426125682 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1812T>A (p.Ser604=) c.*124T>A (n.*124T>A) c.3441+16305A>T (n.3441+16305A>T) c.*556T>A (n.*556T>A) c.1731T>A (p.Ser577=) c.276+16305A>T (n.276+16305A>T) c.*220+6239T>A (n.*220+6239T>A) c.855T>A (p.Ser285=) c.882T>A (p.Ser294=) c.1737T>A (p.Ser579=) c.1551T>A (p.Ser517=) c.1470T>A (p.Ser490=) c.1176T>A (p.Ser392=) c.1557T>A (p.Ser519=) | |
| 2 | g.48687986del | CA2576963396 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811del (p.Ser604LeufsTer?) c.*123del (n.*123del) c.3441+16306del (n.3441+16306del) c.*555del (n.*555del) c.1730del (p.Ser577LeufsTer?) c.276+16306del (n.276+16306del) c.*220+6238del (n.*220+6238del) c.854del (p.Ser285LeufsTer?) c.881del (p.Ser294LeufsTer?) c.1736del (p.Ser579LeufsTer?) c.1550del (p.Ser517LeufsTer?) c.1469del (p.Ser490LeufsTer?) c.1175del (p.Ser392LeufsTer?) c.1556del (p.Ser519LeufsTer?) | |
| 2 | g.48687986G>A | CA346744405 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811C>T (p.Ser604Phe) c.*123C>T (n.*123C>T) c.3441+16306G>A (n.3441+16306G>A) c.*555C>T (n.*555C>T) c.1730C>T (p.Ser577Phe) c.276+16306G>A (n.276+16306G>A) c.*220+6238C>T (n.*220+6238C>T) c.854C>T (p.Ser285Phe) c.881C>T (p.Ser294Phe) c.1736C>T (p.Ser579Phe) c.1550C>T (p.Ser517Phe) c.1469C>T (p.Ser490Phe) c.1175C>T (p.Ser392Phe) c.1556C>T (p.Ser519Phe) | gnomAD v4 COSMIC |
| 2 | g.48687986G>C | CA346744407 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811C>G (p.Ser604Cys) c.*123C>G (n.*123C>G) c.3441+16306G>C (n.3441+16306G>C) c.*555C>G (n.*555C>G) c.1730C>G (p.Ser577Cys) c.276+16306G>C (n.276+16306G>C) c.*220+6238C>G (n.*220+6238C>G) c.854C>G (p.Ser285Cys) c.881C>G (p.Ser294Cys) c.1736C>G (p.Ser579Cys) c.1550C>G (p.Ser517Cys) c.1469C>G (p.Ser490Cys) c.1175C>G (p.Ser392Cys) c.1556C>G (p.Ser519Cys) | |
| 2 | g.48687986G>T | CA346744409 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1811C>A (p.Ser604Tyr) c.*123C>A (n.*123C>A) c.3441+16306G>T (n.3441+16306G>T) c.*555C>A (n.*555C>A) c.1730C>A (p.Ser577Tyr) c.276+16306G>T (n.276+16306G>T) c.*220+6238C>A (n.*220+6238C>A) c.854C>A (p.Ser285Tyr) c.881C>A (p.Ser294Tyr) c.1736C>A (p.Ser579Tyr) c.1550C>A (p.Ser517Tyr) c.1469C>A (p.Ser490Tyr) c.1175C>A (p.Ser392Tyr) c.1556C>A (p.Ser519Tyr) | |
| 2 | g.48687987A= | CA1248600935 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T= (p.Ser604=) c.*122T= (n.*122T=) c.3441+16307A= (n.3441+16307A=) c.*554T= (n.*554T=) c.1729T= (p.Ser577=) c.276+16307A= (n.276+16307A=) c.*220+6237T= (n.*220+6237T=) c.853T= (p.Ser285=) c.880T= (p.Ser294=) c.1735T= (p.Ser579=) c.1549T= (p.Ser517=) c.1468T= (p.Ser490=) c.1174T= (p.Ser392=) c.1555T= (p.Ser519=) | |
| 2 | g.48687987A>C | CA46752716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T>G (p.Ser604Ala) c.*122T>G (n.*122T>G) c.3441+16307A>C (n.3441+16307A>C) c.*554T>G (n.*554T>G) c.1729T>G (p.Ser577Ala) c.276+16307A>C (n.276+16307A>C) c.*220+6237T>G (n.*220+6237T>G) c.853T>G (p.Ser285Ala) c.880T>G (p.Ser294Ala) c.1735T>G (p.Ser579Ala) c.1549T>G (p.Ser517Ala) c.1468T>G (p.Ser490Ala) c.1174T>G (p.Ser392Ala) c.1555T>G (p.Ser519Ala) | dbSNP |
| 2 | g.48687987A>G | CA346744415 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T>C (p.Ser604Pro) c.*122T>C (n.*122T>C) c.3441+16307A>G (n.3441+16307A>G) c.*554T>C (n.*554T>C) c.1729T>C (p.Ser577Pro) c.276+16307A>G (n.276+16307A>G) c.*220+6237T>C (n.*220+6237T>C) c.853T>C (p.Ser285Pro) c.880T>C (p.Ser294Pro) c.1735T>C (p.Ser579Pro) c.1549T>C (p.Ser517Pro) c.1468T>C (p.Ser490Pro) c.1174T>C (p.Ser392Pro) c.1555T>C (p.Ser519Pro) | |
| 2 | g.48687987A>T | CA346744416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1810T>A (p.Ser604Thr) c.*122T>A (n.*122T>A) c.3441+16307A>T (n.3441+16307A>T) c.*554T>A (n.*554T>A) c.1729T>A (p.Ser577Thr) c.276+16307A>T (n.276+16307A>T) c.*220+6237T>A (n.*220+6237T>A) c.853T>A (p.Ser285Thr) c.880T>A (p.Ser294Thr) c.1735T>A (p.Ser579Thr) c.1549T>A (p.Ser517Thr) c.1468T>A (p.Ser490Thr) c.1174T>A (p.Ser392Thr) c.1555T>A (p.Ser519Thr) | |
| 2 | g.48687988G>A | CA426125694 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1809C>T (p.Asn603=) c.*121C>T (n.*121C>T) c.3441+16308G>A (n.3441+16308G>A) c.*553C>T (n.*553C>T) c.1728C>T (p.Asn576=) c.276+16308G>A (n.276+16308G>A) c.*220+6236C>T (n.*220+6236C>T) c.852C>T (p.Asn284=) c.879C>T (p.Asn293=) c.1734C>T (p.Asn578=) c.1548C>T (p.Asn516=) c.1467C>T (p.Asn489=) c.1173C>T (p.Asn391=) c.1554C>T (p.Asn518=) | |
| 2 | g.48687988G>C | CA346744418 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1809C>G (p.Asn603Lys) c.*121C>G (n.*121C>G) c.3441+16308G>C (n.3441+16308G>C) c.*553C>G (n.*553C>G) c.1728C>G (p.Asn576Lys) c.276+16308G>C (n.276+16308G>C) c.*220+6236C>G (n.*220+6236C>G) c.852C>G (p.Asn284Lys) c.879C>G (p.Asn293Lys) c.1734C>G (p.Asn578Lys) c.1548C>G (p.Asn516Lys) c.1467C>G (p.Asn489Lys) c.1173C>G (p.Asn391Lys) c.1554C>G (p.Asn518Lys) | |
| 2 | g.48687988G>T | CA346744420 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1809C>A (p.Asn603Lys) c.*121C>A (n.*121C>A) c.3441+16308G>T (n.3441+16308G>T) c.*553C>A (n.*553C>A) c.1728C>A (p.Asn576Lys) c.276+16308G>T (n.276+16308G>T) c.*220+6236C>A (n.*220+6236C>A) c.852C>A (p.Asn284Lys) c.879C>A (p.Asn293Lys) c.1734C>A (p.Asn578Lys) c.1548C>A (p.Asn516Lys) c.1467C>A (p.Asn489Lys) c.1173C>A (p.Asn391Lys) c.1554C>A (p.Asn518Lys) | |
| 2 | g.48687989T>A | CA346744421 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A>T (p.Asn603Ile) c.*120A>T (n.*120A>T) c.3441+16309T>A (n.3441+16309T>A) c.*552A>T (n.*552A>T) c.1727A>T (p.Asn576Ile) c.276+16309T>A (n.276+16309T>A) c.*220+6235A>T (n.*220+6235A>T) c.851A>T (p.Asn284Ile) c.878A>T (p.Asn293Ile) c.1733A>T (p.Asn578Ile) c.1547A>T (p.Asn516Ile) c.1466A>T (p.Asn489Ile) c.1172A>T (p.Asn391Ile) c.1553A>T (p.Asn518Ile) | |
| 2 | g.48687989T>C | CA346744424 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A>G (p.Asn603Ser) c.*120A>G (n.*120A>G) c.3441+16309T>C (n.3441+16309T>C) c.*552A>G (n.*552A>G) c.1727A>G (p.Asn576Ser) c.276+16309T>C (n.276+16309T>C) c.*220+6235A>G (n.*220+6235A>G) c.851A>G (p.Asn284Ser) c.878A>G (p.Asn293Ser) c.1733A>G (p.Asn578Ser) c.1547A>G (p.Asn516Ser) c.1466A>G (p.Asn489Ser) c.1172A>G (p.Asn391Ser) c.1553A>G (p.Asn518Ser) | gnomAD v4 |
| 2 | g.48687989T>G | CA346744425 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A>C (p.Asn603Thr) c.*120A>C (n.*120A>C) c.3441+16309T>G (n.3441+16309T>G) c.*552A>C (n.*552A>C) c.1727A>C (p.Asn576Thr) c.276+16309T>G (n.276+16309T>G) c.*220+6235A>C (n.*220+6235A>C) c.851A>C (p.Asn284Thr) c.878A>C (p.Asn293Thr) c.1733A>C (p.Asn578Thr) c.1547A>C (p.Asn516Thr) c.1466A>C (p.Asn489Thr) c.1172A>C (p.Asn391Thr) c.1553A>C (p.Asn518Thr) | dbSNP |
| 2 | g.48687989T= | CA1248600936 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1808A= (p.Asn603=) c.*120A= (n.*120A=) c.3441+16309T= (n.3441+16309T=) c.*552A= (n.*552A=) c.1727A= (p.Asn576=) c.276+16309T= (n.276+16309T=) c.*220+6235A= (n.*220+6235A=) c.851A= (p.Asn284=) c.878A= (p.Asn293=) c.1733A= (p.Asn578=) c.1547A= (p.Asn516=) c.1466A= (p.Asn489=) c.1172A= (p.Asn391=) c.1553A= (p.Asn518=) | |
| 2 | g.48687990T>A | CA346744433 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1807A>T (p.Asn603Tyr) c.*119A>T (n.*119A>T) c.3441+16310T>A (n.3441+16310T>A) c.*551A>T (n.*551A>T) c.1726A>T (p.Asn576Tyr) c.276+16310T>A (n.276+16310T>A) c.*220+6234A>T (n.*220+6234A>T) c.850A>T (p.Asn284Tyr) c.877A>T (p.Asn293Tyr) c.1732A>T (p.Asn578Tyr) c.1546A>T (p.Asn516Tyr) c.1465A>T (p.Asn489Tyr) c.1171A>T (p.Asn391Tyr) c.1552A>T (p.Asn518Tyr) | |
| 2 | g.48687990T>C | CA346744430 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1807A>G (p.Asn603Asp) c.*119A>G (n.*119A>G) c.3441+16310T>C (n.3441+16310T>C) c.*551A>G (n.*551A>G) c.1726A>G (p.Asn576Asp) c.276+16310T>C (n.276+16310T>C) c.*220+6234A>G (n.*220+6234A>G) c.850A>G (p.Asn284Asp) c.877A>G (p.Asn293Asp) c.1732A>G (p.Asn578Asp) c.1546A>G (p.Asn516Asp) c.1465A>G (p.Asn489Asp) c.1171A>G (p.Asn391Asp) c.1552A>G (p.Asn518Asp) | |
| 2 | g.48687990T>G | CA346744428 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1807A>C (p.Asn603His) c.*119A>C (n.*119A>C) c.3441+16310T>G (n.3441+16310T>G) c.*551A>C (n.*551A>C) c.1726A>C (p.Asn576His) c.276+16310T>G (n.276+16310T>G) c.*220+6234A>C (n.*220+6234A>C) c.850A>C (p.Asn284His) c.877A>C (p.Asn293His) c.1732A>C (p.Asn578His) c.1546A>C (p.Asn516His) c.1465A>C (p.Asn489His) c.1171A>C (p.Asn391His) c.1552A>C (p.Asn518His) | |
| 2 | g.48687991G>A | CA426125699 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C>T (p.Thr602=) c.*118C>T (n.*118C>T) c.3441+16311G>A (n.3441+16311G>A) c.*550C>T (n.*550C>T) c.1725C>T (p.Thr575=) c.276+16311G>A (n.276+16311G>A) c.*220+6233C>T (n.*220+6233C>T) c.849C>T (p.Thr283=) c.876C>T (p.Thr292=) c.1731C>T (p.Thr577=) c.1545C>T (p.Thr515=) c.1464C>T (p.Thr488=) c.1170C>T (p.Thr390=) c.1551C>T (p.Thr517=) | dbSNP gnomAD v2 |
| 2 | g.48687991G>C | CA426125700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C>G (p.Thr602=) c.*118C>G (n.*118C>G) c.3441+16311G>C (n.3441+16311G>C) c.*550C>G (n.*550C>G) c.1725C>G (p.Thr575=) c.276+16311G>C (n.276+16311G>C) c.*220+6233C>G (n.*220+6233C>G) c.849C>G (p.Thr283=) c.876C>G (p.Thr292=) c.1731C>G (p.Thr577=) c.1545C>G (p.Thr515=) c.1464C>G (p.Thr488=) c.1170C>G (p.Thr390=) c.1551C>G (p.Thr517=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48687991G= | CA1248600937 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C= (p.Thr602=) c.*118C= (n.*118C=) c.3441+16311G= (n.3441+16311G=) c.*550C= (n.*550C=) c.1725C= (p.Thr575=) c.276+16311G= (n.276+16311G=) c.*220+6233C= (n.*220+6233C=) c.849C= (p.Thr283=) c.876C= (p.Thr292=) c.1731C= (p.Thr577=) c.1545C= (p.Thr515=) c.1464C= (p.Thr488=) c.1170C= (p.Thr390=) c.1551C= (p.Thr517=) | |
| 2 | g.48687991G>T | CA426125701 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1806C>A (p.Thr602=) c.*118C>A (n.*118C>A) c.3441+16311G>T (n.3441+16311G>T) c.*550C>A (n.*550C>A) c.1725C>A (p.Thr575=) c.276+16311G>T (n.276+16311G>T) c.*220+6233C>A (n.*220+6233C>A) c.849C>A (p.Thr283=) c.876C>A (p.Thr292=) c.1731C>A (p.Thr577=) c.1545C>A (p.Thr515=) c.1464C>A (p.Thr488=) c.1170C>A (p.Thr390=) c.1551C>A (p.Thr517=) | dbSNP |
| 2 | g.48687992G>A | CA1652985 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C>T (p.Thr602Ile) c.*117C>T (n.*117C>T) c.3441+16312G>A (n.3441+16312G>A) c.*549C>T (n.*549C>T) c.1724C>T (p.Thr575Ile) c.276+16312G>A (n.276+16312G>A) c.*220+6232C>T (n.*220+6232C>T) c.848C>T (p.Thr283Ile) c.875C>T (p.Thr292Ile) c.1730C>T (p.Thr577Ile) c.1544C>T (p.Thr515Ile) c.1463C>T (p.Thr488Ile) c.1169C>T (p.Thr390Ile) c.1550C>T (p.Thr517Ile) | ClinVar dbSNP ExAC gnomAD v4 |
| 2 | g.48687992G>C | CA346744435 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C>G (p.Thr602Ser) c.*117C>G (n.*117C>G) c.3441+16312G>C (n.3441+16312G>C) c.*549C>G (n.*549C>G) c.1724C>G (p.Thr575Ser) c.276+16312G>C (n.276+16312G>C) c.*220+6232C>G (n.*220+6232C>G) c.848C>G (p.Thr283Ser) c.875C>G (p.Thr292Ser) c.1730C>G (p.Thr577Ser) c.1544C>G (p.Thr515Ser) c.1463C>G (p.Thr488Ser) c.1169C>G (p.Thr390Ser) c.1550C>G (p.Thr517Ser) | |
| 2 | g.48687992G= | CA1248600938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C= (p.Thr602=) c.*117C= (n.*117C=) c.3441+16312G= (n.3441+16312G=) c.*549C= (n.*549C=) c.1724C= (p.Thr575=) c.276+16312G= (n.276+16312G=) c.*220+6232C= (n.*220+6232C=) c.848C= (p.Thr283=) c.875C= (p.Thr292=) c.1730C= (p.Thr577=) c.1544C= (p.Thr515=) c.1463C= (p.Thr488=) c.1169C= (p.Thr390=) c.1550C= (p.Thr517=) | |
| 2 | g.48687992G>T | CA346744437 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1805C>A (p.Thr602Asn) c.*117C>A (n.*117C>A) c.3441+16312G>T (n.3441+16312G>T) c.*549C>A (n.*549C>A) c.1724C>A (p.Thr575Asn) c.276+16312G>T (n.276+16312G>T) c.*220+6232C>A (n.*220+6232C>A) c.848C>A (p.Thr283Asn) c.875C>A (p.Thr292Asn) c.1730C>A (p.Thr577Asn) c.1544C>A (p.Thr515Asn) c.1463C>A (p.Thr488Asn) c.1169C>A (p.Thr390Asn) c.1550C>A (p.Thr517Asn) | gnomAD v4 |
| 2 | g.48687993T>A | CA346744441 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1804A>T (p.Thr602Ser) c.*116A>T (n.*116A>T) c.3441+16313T>A (n.3441+16313T>A) c.*548A>T (n.*548A>T) c.1723A>T (p.Thr575Ser) c.276+16313T>A (n.276+16313T>A) c.*220+6231A>T (n.*220+6231A>T) c.847A>T (p.Thr283Ser) c.874A>T (p.Thr292Ser) c.1729A>T (p.Thr577Ser) c.1543A>T (p.Thr515Ser) c.1462A>T (p.Thr488Ser) c.1168A>T (p.Thr390Ser) c.1549A>T (p.Thr517Ser) | |
| 2 | g.48687993T>C | CA346744443 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1804A>G (p.Thr602Ala) c.*116A>G (n.*116A>G) c.3441+16313T>C (n.3441+16313T>C) c.*548A>G (n.*548A>G) c.1723A>G (p.Thr575Ala) c.276+16313T>C (n.276+16313T>C) c.*220+6231A>G (n.*220+6231A>G) c.847A>G (p.Thr283Ala) c.874A>G (p.Thr292Ala) c.1729A>G (p.Thr577Ala) c.1543A>G (p.Thr515Ala) c.1462A>G (p.Thr488Ala) c.1168A>G (p.Thr390Ala) c.1549A>G (p.Thr517Ala) | gnomAD v4 |
| 2 | g.48687993T>G | CA346744445 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1804A>C (p.Thr602Pro) c.*116A>C (n.*116A>C) c.3441+16313T>G (n.3441+16313T>G) c.*548A>C (n.*548A>C) c.1723A>C (p.Thr575Pro) c.276+16313T>G (n.276+16313T>G) c.*220+6231A>C (n.*220+6231A>C) c.847A>C (p.Thr283Pro) c.874A>C (p.Thr292Pro) c.1729A>C (p.Thr577Pro) c.1543A>C (p.Thr515Pro) c.1462A>C (p.Thr488Pro) c.1168A>C (p.Thr390Pro) c.1549A>C (p.Thr517Pro) | |
| 2 | g.48687994T>A | CA426125708 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>T (p.Val601=) c.*115A>T (n.*115A>T) c.3441+16314T>A (n.3441+16314T>A) c.*547A>T (n.*547A>T) c.1722A>T (p.Val574=) c.276+16314T>A (n.276+16314T>A) c.*220+6230A>T (n.*220+6230A>T) c.846A>T (p.Val282=) c.873A>T (p.Val291=) c.1728A>T (p.Val576=) c.1542A>T (p.Val514=) c.1461A>T (p.Val487=) c.1167A>T (p.Val389=) c.1548A>T (p.Val516=) | |
| 2 | g.48687994T>C | CA426125709 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>G (p.Val601=) c.*115A>G (n.*115A>G) c.3441+16314T>C (n.3441+16314T>C) c.*547A>G (n.*547A>G) c.1722A>G (p.Val574=) c.276+16314T>C (n.276+16314T>C) c.*220+6230A>G (n.*220+6230A>G) c.846A>G (p.Val282=) c.873A>G (p.Val291=) c.1728A>G (p.Val576=) c.1542A>G (p.Val514=) c.1461A>G (p.Val487=) c.1167A>G (p.Val389=) c.1548A>G (p.Val516=) | |
| 2 | g.48687994T>G | CA426125712 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1803A>C (p.Val601=) c.*115A>C (n.*115A>C) c.3441+16314T>G (n.3441+16314T>G) c.*547A>C (n.*547A>C) c.1722A>C (p.Val574=) c.276+16314T>G (n.276+16314T>G) c.*220+6230A>C (n.*220+6230A>C) c.846A>C (p.Val282=) c.873A>C (p.Val291=) c.1728A>C (p.Val576=) c.1542A>C (p.Val514=) c.1461A>C (p.Val487=) c.1167A>C (p.Val389=) c.1548A>C (p.Val516=) | |
| 2 | g.48687995A>C | CA346744446 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>G (p.Val601Gly) c.*114T>G (n.*114T>G) c.3441+16315A>C (n.3441+16315A>C) c.*546T>G (n.*546T>G) c.1721T>G (p.Val574Gly) c.276+16315A>C (n.276+16315A>C) c.*220+6229T>G (n.*220+6229T>G) c.845T>G (p.Val282Gly) c.872T>G (p.Val291Gly) c.1727T>G (p.Val576Gly) c.1541T>G (p.Val514Gly) c.1460T>G (p.Val487Gly) c.1166T>G (p.Val389Gly) c.1547T>G (p.Val516Gly) | |
| 2 | g.48687995A>G | CA346744447 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>C (p.Val601Ala) c.*114T>C (n.*114T>C) c.3441+16315A>G (n.3441+16315A>G) c.*546T>C (n.*546T>C) c.1721T>C (p.Val574Ala) c.276+16315A>G (n.276+16315A>G) c.*220+6229T>C (n.*220+6229T>C) c.845T>C (p.Val282Ala) c.872T>C (p.Val291Ala) c.1727T>C (p.Val576Ala) c.1541T>C (p.Val514Ala) c.1460T>C (p.Val487Ala) c.1166T>C (p.Val389Ala) c.1547T>C (p.Val516Ala) | |
| 2 | g.48687995A>T | CA346744448 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1802T>A (p.Val601Glu) c.*114T>A (n.*114T>A) c.3441+16315A>T (n.3441+16315A>T) c.*546T>A (n.*546T>A) c.1721T>A (p.Val574Glu) c.276+16315A>T (n.276+16315A>T) c.*220+6229T>A (n.*220+6229T>A) c.845T>A (p.Val282Glu) c.872T>A (p.Val291Glu) c.1727T>A (p.Val576Glu) c.1541T>A (p.Val514Glu) c.1460T>A (p.Val487Glu) c.1166T>A (p.Val389Glu) c.1547T>A (p.Val516Glu) | COSMIC |
| 2 | g.48687996C>A | CA346744449 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>T (p.Val601Leu) c.*113G>T (n.*113G>T) c.3441+16316C>A (n.3441+16316C>A) c.*545G>T (n.*545G>T) c.1720G>T (p.Val574Leu) c.276+16316C>A (n.276+16316C>A) c.*220+6228G>T (n.*220+6228G>T) c.844G>T (p.Val282Leu) c.871G>T (p.Val291Leu) c.1726G>T (p.Val576Leu) c.1540G>T (p.Val514Leu) c.1459G>T (p.Val487Leu) c.1165G>T (p.Val389Leu) c.1546G>T (p.Val516Leu) | |
| 2 | g.48687996C>G | CA346744450 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1801G>C (p.Val601Leu) c.*113G>C (n.*113G>C) c.3441+16316C>G (n.3441+16316C>G) c.*545G>C (n.*545G>C) c.1720G>C (p.Val574Leu) c.276+16316C>G (n.276+16316C>G) c.*220+6228G>C (n.*220+6228G>C) c.844G>C (p.Val282Leu) c.871G>C (p.Val291Leu) c.1726G>C (p.Val576Leu) c.1540G>C (p.Val514Leu) c.1459G>C (p.Val487Leu) c.1165G>C (p.Val389Leu) c.1546G>C (p.Val516Leu) |