| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48687968dup | CA2658992079 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1834dup (p.Tyr612LeufsTer17) c.*146dup (n.*146dup) c.3441+16288dup (n.3441+16288dup) c.*578dup (n.*578dup) c.1753dup (p.Tyr585LeufsTer17) c.276+16288dup (n.276+16288dup) c.*220+6261dup (n.*220+6261dup) c.877dup (p.Tyr293LeufsTer17) c.904dup (p.Tyr302LeufsTer17) c.1759dup (p.Tyr587LeufsTer17) c.1573dup (p.Tyr525LeufsTer17) c.1492dup (p.Tyr498LeufsTer17) c.1198dup (p.Tyr400LeufsTer17) c.1579dup (p.Tyr527LeufsTer17) | gnomAD v4 |
| 2 | g.48687967A>C | CA426125611 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1830T>G (p.Leu610=) c.*142T>G (n.*142T>G) c.3441+16287A>C (n.3441+16287A>C) c.*574T>G (n.*574T>G) c.1749T>G (p.Leu583=) c.276+16287A>C (n.276+16287A>C) c.*220+6257T>G (n.*220+6257T>G) c.873T>G (p.Leu291=) c.900T>G (p.Leu300=) c.1755T>G (p.Leu585=) c.1569T>G (p.Leu523=) c.1488T>G (p.Leu496=) c.1194T>G (p.Leu398=) c.1575T>G (p.Leu525=) | |
| 2 | g.48687967A>G | CA426125610 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1830T>C (p.Leu610=) c.*142T>C (n.*142T>C) c.3441+16287A>G (n.3441+16287A>G) c.*574T>C (n.*574T>C) c.1749T>C (p.Leu583=) c.276+16287A>G (n.276+16287A>G) c.*220+6257T>C (n.*220+6257T>C) c.873T>C (p.Leu291=) c.900T>C (p.Leu300=) c.1755T>C (p.Leu585=) c.1569T>C (p.Leu523=) c.1488T>C (p.Leu496=) c.1194T>C (p.Leu398=) c.1575T>C (p.Leu525=) | |
| 2 | g.48687967A>T | CA426125604 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1830T>A (p.Leu610=) c.*142T>A (n.*142T>A) c.3441+16287A>T (n.3441+16287A>T) c.*574T>A (n.*574T>A) c.1749T>A (p.Leu583=) c.276+16287A>T (n.276+16287A>T) c.*220+6257T>A (n.*220+6257T>A) c.873T>A (p.Leu291=) c.900T>A (p.Leu300=) c.1755T>A (p.Leu585=) c.1569T>A (p.Leu523=) c.1488T>A (p.Leu496=) c.1194T>A (p.Leu398=) c.1575T>A (p.Leu525=) | |
| 2 | g.48687968A>C | CA346744311 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1829T>G (p.Leu610Arg) c.*141T>G (n.*141T>G) c.3441+16288A>C (n.3441+16288A>C) c.*573T>G (n.*573T>G) c.1748T>G (p.Leu583Arg) c.276+16288A>C (n.276+16288A>C) c.*220+6256T>G (n.*220+6256T>G) c.872T>G (p.Leu291Arg) c.899T>G (p.Leu300Arg) c.1754T>G (p.Leu585Arg) c.1568T>G (p.Leu523Arg) c.1487T>G (p.Leu496Arg) c.1193T>G (p.Leu398Arg) c.1574T>G (p.Leu525Arg) | |
| 2 | g.48687968A>G | CA346744307 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1829T>C (p.Leu610Pro) c.*141T>C (n.*141T>C) c.3441+16288A>G (n.3441+16288A>G) c.*573T>C (n.*573T>C) c.1748T>C (p.Leu583Pro) c.276+16288A>G (n.276+16288A>G) c.*220+6256T>C (n.*220+6256T>C) c.872T>C (p.Leu291Pro) c.899T>C (p.Leu300Pro) c.1754T>C (p.Leu585Pro) c.1568T>C (p.Leu523Pro) c.1487T>C (p.Leu496Pro) c.1193T>C (p.Leu398Pro) c.1574T>C (p.Leu525Pro) | |
| 2 | g.48687968A>T | CA346744306 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1829T>A (p.Leu610His) c.*141T>A (n.*141T>A) c.3441+16288A>T (n.3441+16288A>T) c.*573T>A (n.*573T>A) c.1748T>A (p.Leu583His) c.276+16288A>T (n.276+16288A>T) c.*220+6256T>A (n.*220+6256T>A) c.872T>A (p.Leu291His) c.899T>A (p.Leu300His) c.1754T>A (p.Leu585His) c.1568T>A (p.Leu523His) c.1487T>A (p.Leu496His) c.1193T>A (p.Leu398His) c.1574T>A (p.Leu525His) | |
| 2 | g.48687970_48687975del | CA2580067106 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824_1829del (p.Val609_Leu610del) c.*136_*141del (n.*136_*141del) c.3441+16290_3441+16295del (n.3441+16290_3441+16295del) c.*568_*573del (n.*568_*573del) c.1743_1748del (p.Val582_Leu583del) c.276+16290_276+16295del (n.276+16290_276+16295del) c.*220+6251_*220+6256del (n.*220+6251_*220+6256del) c.867_872del (p.Val290_Leu291del) c.894_899del (p.Val299_Leu300del) c.1749_1754del (p.Val584_Leu585del) c.1563_1568del (p.Val522_Leu523del) c.1482_1487del (p.Val495_Leu496del) c.1188_1193del (p.Val397_Leu398del) c.1569_1574del (p.Val524_Leu525del) | ClinVar dbSNP gnomAD v4 |
| 2 | g.48687969G>A | CA346744312 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C>T (p.Leu610Phe) c.*140C>T (n.*140C>T) c.3441+16289G>A (n.3441+16289G>A) c.*572C>T (n.*572C>T) c.1747C>T (p.Leu583Phe) c.276+16289G>A (n.276+16289G>A) c.*220+6255C>T (n.*220+6255C>T) c.871C>T (p.Leu291Phe) c.898C>T (p.Leu300Phe) c.1753C>T (p.Leu585Phe) c.1567C>T (p.Leu523Phe) c.1486C>T (p.Leu496Phe) c.1192C>T (p.Leu398Phe) c.1573C>T (p.Leu525Phe) | |
| 2 | g.48687969G>C | CA46752703 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C>G (p.Leu610Val) c.*140C>G (n.*140C>G) c.3441+16289G>C (n.3441+16289G>C) c.*572C>G (n.*572C>G) c.1747C>G (p.Leu583Val) c.276+16289G>C (n.276+16289G>C) c.*220+6255C>G (n.*220+6255C>G) c.871C>G (p.Leu291Val) c.898C>G (p.Leu300Val) c.1753C>G (p.Leu585Val) c.1567C>G (p.Leu523Val) c.1486C>G (p.Leu496Val) c.1192C>G (p.Leu398Val) c.1573C>G (p.Leu525Val) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.48687969G= | CA1248600924 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C= (p.Leu610=) c.*140C= (n.*140C=) c.3441+16289G= (n.3441+16289G=) c.*572C= (n.*572C=) c.1747C= (p.Leu583=) c.276+16289G= (n.276+16289G=) c.*220+6255C= (n.*220+6255C=) c.871C= (p.Leu291=) c.898C= (p.Leu300=) c.1753C= (p.Leu585=) c.1567C= (p.Leu523=) c.1486C= (p.Leu496=) c.1192C= (p.Leu398=) c.1573C= (p.Leu525=) | |
| 2 | g.48687969G>T | CA346744313 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1828C>A (p.Leu610Ile) c.*140C>A (n.*140C>A) c.3441+16289G>T (n.3441+16289G>T) c.*572C>A (n.*572C>A) c.1747C>A (p.Leu583Ile) c.276+16289G>T (n.276+16289G>T) c.*220+6255C>A (n.*220+6255C>A) c.871C>A (p.Leu291Ile) c.898C>A (p.Leu300Ile) c.1753C>A (p.Leu585Ile) c.1567C>A (p.Leu523Ile) c.1486C>A (p.Leu496Ile) c.1192C>A (p.Leu398Ile) c.1573C>A (p.Leu525Ile) | |
| 2 | g.48687970A= | CA1248600925 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T= (p.Val609=) c.*139T= (n.*139T=) c.3441+16290A= (n.3441+16290A=) c.*571T= (n.*571T=) c.1746T= (p.Val582=) c.276+16290A= (n.276+16290A=) c.*220+6254T= (n.*220+6254T=) c.870T= (p.Val290=) c.897T= (p.Val299=) c.1752T= (p.Val584=) c.1566T= (p.Val522=) c.1485T= (p.Val495=) c.1191T= (p.Val397=) c.1572T= (p.Val524=) | |
| 2 | g.48687970A>C | CA426125613 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T>G (p.Val609=) c.*139T>G (n.*139T>G) c.3441+16290A>C (n.3441+16290A>C) c.*571T>G (n.*571T>G) c.1746T>G (p.Val582=) c.276+16290A>C (n.276+16290A>C) c.*220+6254T>G (n.*220+6254T>G) c.870T>G (p.Val290=) c.897T>G (p.Val299=) c.1752T>G (p.Val584=) c.1566T>G (p.Val522=) c.1485T>G (p.Val495=) c.1191T>G (p.Val397=) c.1572T>G (p.Val524=) | |
| 2 | g.48687970A>G | CA426125616 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T>C (p.Val609=) c.*139T>C (n.*139T>C) c.3441+16290A>G (n.3441+16290A>G) c.*571T>C (n.*571T>C) c.1746T>C (p.Val582=) c.276+16290A>G (n.276+16290A>G) c.*220+6254T>C (n.*220+6254T>C) c.870T>C (p.Val290=) c.897T>C (p.Val299=) c.1752T>C (p.Val584=) c.1566T>C (p.Val522=) c.1485T>C (p.Val495=) c.1191T>C (p.Val397=) c.1572T>C (p.Val524=) | dbSNP |
| 2 | g.48687970A>T | CA426125620 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1827T>A (p.Val609=) c.*139T>A (n.*139T>A) c.3441+16290A>T (n.3441+16290A>T) c.*571T>A (n.*571T>A) c.1746T>A (p.Val582=) c.276+16290A>T (n.276+16290A>T) c.*220+6254T>A (n.*220+6254T>A) c.870T>A (p.Val290=) c.897T>A (p.Val299=) c.1752T>A (p.Val584=) c.1566T>A (p.Val522=) c.1485T>A (p.Val495=) c.1191T>A (p.Val397=) c.1572T>A (p.Val524=) | |
| 2 | g.48687971A>C | CA346744317 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1826T>G (p.Val609Gly) c.*138T>G (n.*138T>G) c.3441+16291A>C (n.3441+16291A>C) c.*570T>G (n.*570T>G) c.1745T>G (p.Val582Gly) c.276+16291A>C (n.276+16291A>C) c.*220+6253T>G (n.*220+6253T>G) c.869T>G (p.Val290Gly) c.896T>G (p.Val299Gly) c.1751T>G (p.Val584Gly) c.1565T>G (p.Val522Gly) c.1484T>G (p.Val495Gly) c.1190T>G (p.Val397Gly) c.1571T>G (p.Val524Gly) | |
| 2 | g.48687971A>G | CA346744322 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1826T>C (p.Val609Ala) c.*138T>C (n.*138T>C) c.3441+16291A>G (n.3441+16291A>G) c.*570T>C (n.*570T>C) c.1745T>C (p.Val582Ala) c.276+16291A>G (n.276+16291A>G) c.*220+6253T>C (n.*220+6253T>C) c.869T>C (p.Val290Ala) c.896T>C (p.Val299Ala) c.1751T>C (p.Val584Ala) c.1565T>C (p.Val522Ala) c.1484T>C (p.Val495Ala) c.1190T>C (p.Val397Ala) c.1571T>C (p.Val524Ala) | |
| 2 | g.48687971A>T | CA346744319 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1826T>A (p.Val609Asp) c.*138T>A (n.*138T>A) c.3441+16291A>T (n.3441+16291A>T) c.*570T>A (n.*570T>A) c.1745T>A (p.Val582Asp) c.276+16291A>T (n.276+16291A>T) c.*220+6253T>A (n.*220+6253T>A) c.869T>A (p.Val290Asp) c.896T>A (p.Val299Asp) c.1751T>A (p.Val584Asp) c.1565T>A (p.Val522Asp) c.1484T>A (p.Val495Asp) c.1190T>A (p.Val397Asp) c.1571T>A (p.Val524Asp) | |
| 2 | g.48687972C>A | CA346744326 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G>T (p.Val609Phe) c.*137G>T (n.*137G>T) c.3441+16292C>A (n.3441+16292C>A) c.*569G>T (n.*569G>T) c.1744G>T (p.Val582Phe) c.276+16292C>A (n.276+16292C>A) c.*220+6252G>T (n.*220+6252G>T) c.868G>T (p.Val290Phe) c.895G>T (p.Val299Phe) c.1750G>T (p.Val584Phe) c.1564G>T (p.Val522Phe) c.1483G>T (p.Val495Phe) c.1189G>T (p.Val397Phe) c.1570G>T (p.Val524Phe) | |
| 2 | g.48687972C= | CA1248600926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G= (p.Val609=) c.*137G= (n.*137G=) c.3441+16292C= (n.3441+16292C=) c.*569G= (n.*569G=) c.1744G= (p.Val582=) c.276+16292C= (n.276+16292C=) c.*220+6252G= (n.*220+6252G=) c.868G= (p.Val290=) c.895G= (p.Val299=) c.1750G= (p.Val584=) c.1564G= (p.Val522=) c.1483G= (p.Val495=) c.1189G= (p.Val397=) c.1570G= (p.Val524=) | |
| 2 | g.48687972C>G | CA346744331 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G>C (p.Val609Leu) c.*137G>C (n.*137G>C) c.3441+16292C>G (n.3441+16292C>G) c.*569G>C (n.*569G>C) c.1744G>C (p.Val582Leu) c.276+16292C>G (n.276+16292C>G) c.*220+6252G>C (n.*220+6252G>C) c.868G>C (p.Val290Leu) c.895G>C (p.Val299Leu) c.1750G>C (p.Val584Leu) c.1564G>C (p.Val522Leu) c.1483G>C (p.Val495Leu) c.1189G>C (p.Val397Leu) c.1570G>C (p.Val524Leu) | dbSNP |
| 2 | g.48687972C>T | CA346744329 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1825G>A (p.Val609Ile) c.*137G>A (n.*137G>A) c.3441+16292C>T (n.3441+16292C>T) c.*569G>A (n.*569G>A) c.1744G>A (p.Val582Ile) c.276+16292C>T (n.276+16292C>T) c.*220+6252G>A (n.*220+6252G>A) c.868G>A (p.Val290Ile) c.895G>A (p.Val299Ile) c.1750G>A (p.Val584Ile) c.1564G>A (p.Val522Ile) c.1483G>A (p.Val495Ile) c.1189G>A (p.Val397Ile) c.1570G>A (p.Val524Ile) | dbSNP |
| 2 | g.48687973C>A | CA426125631 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G>T (p.Leu608=) c.*136G>T (n.*136G>T) c.3441+16293C>A (n.3441+16293C>A) c.*568G>T (n.*568G>T) c.1743G>T (p.Leu581=) c.276+16293C>A (n.276+16293C>A) c.*220+6251G>T (n.*220+6251G>T) c.867G>T (p.Leu289=) c.894G>T (p.Leu298=) c.1749G>T (p.Leu583=) c.1563G>T (p.Leu521=) c.1482G>T (p.Leu494=) c.1188G>T (p.Leu396=) c.1569G>T (p.Leu523=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.48687973C= | CA1248600927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G= (p.Leu608=) c.*136G= (n.*136G=) c.3441+16293C= (n.3441+16293C=) c.*568G= (n.*568G=) c.1743G= (p.Leu581=) c.276+16293C= (n.276+16293C=) c.*220+6251G= (n.*220+6251G=) c.867G= (p.Leu289=) c.894G= (p.Leu298=) c.1749G= (p.Leu583=) c.1563G= (p.Leu521=) c.1482G= (p.Leu494=) c.1188G= (p.Leu396=) c.1569G= (p.Leu523=) | |
| 2 | g.48687973C>G | CA426125634 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G>C (p.Leu608=) c.*136G>C (n.*136G>C) c.3441+16293C>G (n.3441+16293C>G) c.*568G>C (n.*568G>C) c.1743G>C (p.Leu581=) c.276+16293C>G (n.276+16293C>G) c.*220+6251G>C (n.*220+6251G>C) c.867G>C (p.Leu289=) c.894G>C (p.Leu298=) c.1749G>C (p.Leu583=) c.1563G>C (p.Leu521=) c.1482G>C (p.Leu494=) c.1188G>C (p.Leu396=) c.1569G>C (p.Leu523=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.48687973C>T | CA426125633 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1824G>A (p.Leu608=) c.*136G>A (n.*136G>A) c.3441+16293C>T (n.3441+16293C>T) c.*568G>A (n.*568G>A) c.1743G>A (p.Leu581=) c.276+16293C>T (n.276+16293C>T) c.*220+6251G>A (n.*220+6251G>A) c.867G>A (p.Leu289=) c.894G>A (p.Leu298=) c.1749G>A (p.Leu583=) c.1563G>A (p.Leu521=) c.1482G>A (p.Leu494=) c.1188G>A (p.Leu396=) c.1569G>A (p.Leu523=) | |
| 2 | g.48687974A= | CA1248600928 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T= (p.Leu608=) c.*135T= (n.*135T=) c.3441+16294A= (n.3441+16294A=) c.*567T= (n.*567T=) c.1742T= (p.Leu581=) c.276+16294A= (n.276+16294A=) c.*220+6250T= (n.*220+6250T=) c.866T= (p.Leu289=) c.893T= (p.Leu298=) c.1748T= (p.Leu583=) c.1562T= (p.Leu521=) c.1481T= (p.Leu494=) c.1187T= (p.Leu396=) c.1568T= (p.Leu523=) | |
| 2 | g.48687974A>C | CA346744334 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T>G (p.Leu608Arg) c.*135T>G (n.*135T>G) c.3441+16294A>C (n.3441+16294A>C) c.*567T>G (n.*567T>G) c.1742T>G (p.Leu581Arg) c.276+16294A>C (n.276+16294A>C) c.*220+6250T>G (n.*220+6250T>G) c.866T>G (p.Leu289Arg) c.893T>G (p.Leu298Arg) c.1748T>G (p.Leu583Arg) c.1562T>G (p.Leu521Arg) c.1481T>G (p.Leu494Arg) c.1187T>G (p.Leu396Arg) c.1568T>G (p.Leu523Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.48687974A>G | CA346744336 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T>C (p.Leu608Pro) c.*135T>C (n.*135T>C) c.3441+16294A>G (n.3441+16294A>G) c.*567T>C (n.*567T>C) c.1742T>C (p.Leu581Pro) c.276+16294A>G (n.276+16294A>G) c.*220+6250T>C (n.*220+6250T>C) c.866T>C (p.Leu289Pro) c.893T>C (p.Leu298Pro) c.1748T>C (p.Leu583Pro) c.1562T>C (p.Leu521Pro) c.1481T>C (p.Leu494Pro) c.1187T>C (p.Leu396Pro) c.1568T>C (p.Leu523Pro) | dbSNP |
| 2 | g.48687974A>T | CA346744338 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1823T>A (p.Leu608Gln) c.*135T>A (n.*135T>A) c.3441+16294A>T (n.3441+16294A>T) c.*567T>A (n.*567T>A) c.1742T>A (p.Leu581Gln) c.276+16294A>T (n.276+16294A>T) c.*220+6250T>A (n.*220+6250T>A) c.866T>A (p.Leu289Gln) c.893T>A (p.Leu298Gln) c.1748T>A (p.Leu583Gln) c.1562T>A (p.Leu521Gln) c.1481T>A (p.Leu494Gln) c.1187T>A (p.Leu396Gln) c.1568T>A (p.Leu523Gln) | |
| 2 | g.48687975G>A | CA426125638 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1822C>T (p.Leu608=) c.*134C>T (n.*134C>T) c.3441+16295G>A (n.3441+16295G>A) c.*566C>T (n.*566C>T) c.1741C>T (p.Leu581=) c.276+16295G>A (n.276+16295G>A) c.*220+6249C>T (n.*220+6249C>T) c.865C>T (p.Leu289=) c.892C>T (p.Leu298=) c.1747C>T (p.Leu583=) c.1561C>T (p.Leu521=) c.1480C>T (p.Leu494=) c.1186C>T (p.Leu396=) c.1567C>T (p.Leu523=) | COSMIC |
| 2 | g.48687975G>C | CA346744340 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1822C>G (p.Leu608Val) c.*134C>G (n.*134C>G) c.3441+16295G>C (n.3441+16295G>C) c.*566C>G (n.*566C>G) c.1741C>G (p.Leu581Val) c.276+16295G>C (n.276+16295G>C) c.*220+6249C>G (n.*220+6249C>G) c.865C>G (p.Leu289Val) c.892C>G (p.Leu298Val) c.1747C>G (p.Leu583Val) c.1561C>G (p.Leu521Val) c.1480C>G (p.Leu494Val) c.1186C>G (p.Leu396Val) c.1567C>G (p.Leu523Val) | |
| 2 | g.48687975G>T | CA346744342 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1822C>A (p.Leu608Met) c.*134C>A (n.*134C>A) c.3441+16295G>T (n.3441+16295G>T) c.*566C>A (n.*566C>A) c.1741C>A (p.Leu581Met) c.276+16295G>T (n.276+16295G>T) c.*220+6249C>A (n.*220+6249C>A) c.865C>A (p.Leu289Met) c.892C>A (p.Leu298Met) c.1747C>A (p.Leu583Met) c.1561C>A (p.Leu521Met) c.1480C>A (p.Leu494Met) c.1186C>A (p.Leu396Met) c.1567C>A (p.Leu523Met) | |
| 2 | g.48687976T>A | CA346744344 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A>T (p.Leu607Phe) c.*133A>T (n.*133A>T) c.3441+16296T>A (n.3441+16296T>A) c.*565A>T (n.*565A>T) c.1740A>T (p.Leu580Phe) c.276+16296T>A (n.276+16296T>A) c.*220+6248A>T (n.*220+6248A>T) c.864A>T (p.Leu288Phe) c.891A>T (p.Leu297Phe) c.1746A>T (p.Leu582Phe) c.1560A>T (p.Leu520Phe) c.1479A>T (p.Leu493Phe) c.1185A>T (p.Leu395Phe) c.1566A>T (p.Leu522Phe) | |
| 2 | g.48687976T>C | CA1652982 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A>G (p.Leu607=) c.*133A>G (n.*133A>G) c.3441+16296T>C (n.3441+16296T>C) c.*565A>G (n.*565A>G) c.1740A>G (p.Leu580=) c.276+16296T>C (n.276+16296T>C) c.*220+6248A>G (n.*220+6248A>G) c.864A>G (p.Leu288=) c.891A>G (p.Leu297=) c.1746A>G (p.Leu582=) c.1560A>G (p.Leu520=) c.1479A>G (p.Leu493=) c.1185A>G (p.Leu395=) c.1566A>G (p.Leu522=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48687976T>G | CA346744350 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A>C (p.Leu607Phe) c.*133A>C (n.*133A>C) c.3441+16296T>G (n.3441+16296T>G) c.*565A>C (n.*565A>C) c.1740A>C (p.Leu580Phe) c.276+16296T>G (n.276+16296T>G) c.*220+6248A>C (n.*220+6248A>C) c.864A>C (p.Leu288Phe) c.891A>C (p.Leu297Phe) c.1746A>C (p.Leu582Phe) c.1560A>C (p.Leu520Phe) c.1479A>C (p.Leu493Phe) c.1185A>C (p.Leu395Phe) c.1566A>C (p.Leu522Phe) | |
| 2 | g.48687976T= | CA1248600929 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1821A= (p.Leu607=) c.*133A= (n.*133A=) c.3441+16296T= (n.3441+16296T=) c.*565A= (n.*565A=) c.1740A= (p.Leu580=) c.276+16296T= (n.276+16296T=) c.*220+6248A= (n.*220+6248A=) c.864A= (p.Leu288=) c.891A= (p.Leu297=) c.1746A= (p.Leu582=) c.1560A= (p.Leu520=) c.1479A= (p.Leu493=) c.1185A= (p.Leu395=) c.1566A= (p.Leu522=) | |
| 2 | g.48687977A>C | CA346744352 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1820T>G (p.Leu607Ter) c.*132T>G (n.*132T>G) c.3441+16297A>C (n.3441+16297A>C) c.*564T>G (n.*564T>G) c.1739T>G (p.Leu580Ter) c.276+16297A>C (n.276+16297A>C) c.*220+6247T>G (n.*220+6247T>G) c.863T>G (p.Leu288Ter) c.890T>G (p.Leu297Ter) c.1745T>G (p.Leu582Ter) c.1559T>G (p.Leu520Ter) c.1478T>G (p.Leu493Ter) c.1184T>G (p.Leu395Ter) c.1565T>G (p.Leu522Ter) | |
| 2 | g.48687977A>G | CA346744355 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1820T>C (p.Leu607Ser) c.*132T>C (n.*132T>C) c.3441+16297A>G (n.3441+16297A>G) c.*564T>C (n.*564T>C) c.1739T>C (p.Leu580Ser) c.276+16297A>G (n.276+16297A>G) c.*220+6247T>C (n.*220+6247T>C) c.863T>C (p.Leu288Ser) c.890T>C (p.Leu297Ser) c.1745T>C (p.Leu582Ser) c.1559T>C (p.Leu520Ser) c.1478T>C (p.Leu493Ser) c.1184T>C (p.Leu395Ser) c.1565T>C (p.Leu522Ser) | |
| 2 | g.48687977A>T | CA346744358 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1820T>A (p.Leu607Ter) c.*132T>A (n.*132T>A) c.3441+16297A>T (n.3441+16297A>T) c.*564T>A (n.*564T>A) c.1739T>A (p.Leu580Ter) c.276+16297A>T (n.276+16297A>T) c.*220+6247T>A (n.*220+6247T>A) c.863T>A (p.Leu288Ter) c.890T>A (p.Leu297Ter) c.1745T>A (p.Leu582Ter) c.1559T>A (p.Leu520Ter) c.1478T>A (p.Leu493Ter) c.1184T>A (p.Leu395Ter) c.1565T>A (p.Leu522Ter) | |
| 2 | g.48687978A= | CA1248600930 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T= (p.Leu607=) c.*131T= (n.*131T=) c.3441+16298A= (n.3441+16298A=) c.*563T= (n.*563T=) c.1738T= (p.Leu580=) c.276+16298A= (n.276+16298A=) c.*220+6246T= (n.*220+6246T=) c.862T= (p.Leu288=) c.889T= (p.Leu297=) c.1744T= (p.Leu582=) c.1558T= (p.Leu520=) c.1477T= (p.Leu493=) c.1183T= (p.Leu395=) c.1564T= (p.Leu522=) | |
| 2 | g.48687978A>C | CA1652983 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T>G (p.Leu607Val) c.*131T>G (n.*131T>G) c.3441+16298A>C (n.3441+16298A>C) c.*563T>G (n.*563T>G) c.1738T>G (p.Leu580Val) c.276+16298A>C (n.276+16298A>C) c.*220+6246T>G (n.*220+6246T>G) c.862T>G (p.Leu288Val) c.889T>G (p.Leu297Val) c.1744T>G (p.Leu582Val) c.1558T>G (p.Leu520Val) c.1477T>G (p.Leu493Val) c.1183T>G (p.Leu395Val) c.1564T>G (p.Leu522Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.48687978A>G | CA426125655 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T>C (p.Leu607=) c.*131T>C (n.*131T>C) c.3441+16298A>G (n.3441+16298A>G) c.*563T>C (n.*563T>C) c.1738T>C (p.Leu580=) c.276+16298A>G (n.276+16298A>G) c.*220+6246T>C (n.*220+6246T>C) c.862T>C (p.Leu288=) c.889T>C (p.Leu297=) c.1744T>C (p.Leu582=) c.1558T>C (p.Leu520=) c.1477T>C (p.Leu493=) c.1183T>C (p.Leu395=) c.1564T>C (p.Leu522=) | |
| 2 | g.48687978A>T | CA346744361 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1819T>A (p.Leu607Ile) c.*131T>A (n.*131T>A) c.3441+16298A>T (n.3441+16298A>T) c.*563T>A (n.*563T>A) c.1738T>A (p.Leu580Ile) c.276+16298A>T (n.276+16298A>T) c.*220+6246T>A (n.*220+6246T>A) c.862T>A (p.Leu288Ile) c.889T>A (p.Leu297Ile) c.1744T>A (p.Leu582Ile) c.1558T>A (p.Leu520Ile) c.1477T>A (p.Leu493Ile) c.1183T>A (p.Leu395Ile) c.1564T>A (p.Leu522Ile) | |
| 2 | g.48687979A= | CA1248600931 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T= (p.Val606=) c.*130T= (n.*130T=) c.3441+16299A= (n.3441+16299A=) c.*562T= (n.*562T=) c.1737T= (p.Val579=) c.276+16299A= (n.276+16299A=) c.*220+6245T= (n.*220+6245T=) c.861T= (p.Val287=) c.888T= (p.Val296=) c.1743T= (p.Val581=) c.1557T= (p.Val519=) c.1476T= (p.Val492=) c.1182T= (p.Val394=) c.1563T= (p.Val521=) | |
| 2 | g.48687979A>C | CA426125658 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T>G (p.Val606=) c.*130T>G (n.*130T>G) c.3441+16299A>C (n.3441+16299A>C) c.*562T>G (n.*562T>G) c.1737T>G (p.Val579=) c.276+16299A>C (n.276+16299A>C) c.*220+6245T>G (n.*220+6245T>G) c.861T>G (p.Val287=) c.888T>G (p.Val296=) c.1743T>G (p.Val581=) c.1557T>G (p.Val519=) c.1476T>G (p.Val492=) c.1182T>G (p.Val394=) c.1563T>G (p.Val521=) | |
| 2 | g.48687979A>G | CA426125659 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T>C (p.Val606=) c.*130T>C (n.*130T>C) c.3441+16299A>G (n.3441+16299A>G) c.*562T>C (n.*562T>C) c.1737T>C (p.Val579=) c.276+16299A>G (n.276+16299A>G) c.*220+6245T>C (n.*220+6245T>C) c.861T>C (p.Val287=) c.888T>C (p.Val296=) c.1743T>C (p.Val581=) c.1557T>C (p.Val519=) c.1476T>C (p.Val492=) c.1182T>C (p.Val394=) c.1563T>C (p.Val521=) | dbSNP gnomAD v4 |
| 2 | g.48687979A>T | CA426125660 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1818T>A (p.Val606=) c.*130T>A (n.*130T>A) c.3441+16299A>T (n.3441+16299A>T) c.*562T>A (n.*562T>A) c.1737T>A (p.Val579=) c.276+16299A>T (n.276+16299A>T) c.*220+6245T>A (n.*220+6245T>A) c.861T>A (p.Val287=) c.888T>A (p.Val296=) c.1743T>A (p.Val581=) c.1557T>A (p.Val519=) c.1476T>A (p.Val492=) c.1182T>A (p.Val394=) c.1563T>A (p.Val521=) | |
| 2 | g.48687980A= | CA1248600932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1817T= (p.Val606=) c.*129T= (n.*129T=) c.3441+16300A= (n.3441+16300A=) c.*561T= (n.*561T=) c.1736T= (p.Val579=) c.276+16300A= (n.276+16300A=) c.*220+6244T= (n.*220+6244T=) c.860T= (p.Val287=) c.887T= (p.Val296=) c.1742T= (p.Val581=) c.1556T= (p.Val519=) c.1475T= (p.Val492=) c.1181T= (p.Val394=) c.1562T= (p.Val521=) |