UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.48691018_48697101del | CA2580067086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.866+1515_948-2168del c.866+1515_948-2878del c.3441+19338_3441+25421del (n.3441+19338_3441+25421del) c.866+1515_948-2434del c.866+1515_867-2168del (n.866+1515_867-2168del) c.276+19338_276+25421del (n.276+19338_276+25421del) c.*139+1515_*220+3207del c.791+1515_873-2168del c.606-2796_687-2168del c.606-8251_606-2168del (n.606-8251_606-2168del) c.230+1515_312-2168del c.612-2796_693-2168del | ClinVar |
| 2 | g.48694243del | CA2658992271 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.930del (p.Val311Ter) c.3441+22563del (n.3441+22563del) c.866+4374del (n.866+4374del) c.276+22563del (n.276+22563del) c.*203del (n.*203del) c.-11del (n.-11del) c.855del (p.Val286Ter) c.669del (p.Val224Ter) c.606-5392del (n.606-5392del) c.294del (p.Val99Ter) c.675del (p.Val226Ter) | gnomAD v4 |
| 2 | g.48694243T>A | CA346751549 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.928A>T (p.Lys310Ter) c.3441+22563T>A (n.3441+22563T>A) c.866+4372A>T (n.866+4372A>T) c.276+22563T>A (n.276+22563T>A) c.*201A>T (n.*201A>T) c.-13A>T (n.-13A>T) c.853A>T (p.Lys285Ter) c.667A>T (p.Lys223Ter) c.606-5394A>T (n.606-5394A>T) c.292A>T (p.Lys98Ter) c.673A>T (p.Lys225Ter) | gnomAD v4 |
| 2 | g.48694243T>C | CA1653125 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.928A>G (p.Lys310Glu) c.3441+22563T>C (n.3441+22563T>C) c.866+4372A>G (n.866+4372A>G) c.276+22563T>C (n.276+22563T>C) c.*201A>G (n.*201A>G) c.-13A>G (n.-13A>G) c.853A>G (p.Lys285Glu) c.667A>G (p.Lys223Glu) c.606-5394A>G (n.606-5394A>G) c.292A>G (p.Lys98Glu) c.673A>G (p.Lys225Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.48694243T>G | CA346751553 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.928A>C (p.Lys310Gln) c.3441+22563T>G (n.3441+22563T>G) c.866+4372A>C (n.866+4372A>C) c.276+22563T>G (n.276+22563T>G) c.*201A>C (n.*201A>C) c.-13A>C (n.-13A>C) c.853A>C (p.Lys285Gln) c.667A>C (p.Lys223Gln) c.606-5394A>C (n.606-5394A>C) c.292A>C (p.Lys98Gln) c.673A>C (p.Lys225Gln) | |
| 2 | g.48694243T= | CA1248603967 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.928A= (p.Lys310=) c.3441+22563T= (n.3441+22563T=) c.866+4372A= (n.866+4372A=) c.276+22563T= (n.276+22563T=) c.*201A= (n.*201A=) c.-13A= (n.-13A=) c.853A= (p.Lys285=) c.667A= (p.Lys223=) c.606-5394A= (n.606-5394A=) c.292A= (p.Lys98=) c.673A= (p.Lys225=) | |
| 2 | g.48694244C>A | CA346751557 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.927G>T (p.Arg309Ser) c.3441+22564C>A (n.3441+22564C>A) c.866+4371G>T (n.866+4371G>T) c.276+22564C>A (n.276+22564C>A) c.*200G>T (n.*200G>T) c.-14G>T (n.-14G>T) c.852G>T (p.Arg284Ser) c.666G>T (p.Arg222Ser) c.606-5395G>T (n.606-5395G>T) c.291G>T (p.Arg97Ser) c.672G>T (p.Arg224Ser) | |
| 2 | g.48694244C>G | CA346751555 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.927G>C (p.Arg309Ser) c.3441+22564C>G (n.3441+22564C>G) c.866+4371G>C (n.866+4371G>C) c.276+22564C>G (n.276+22564C>G) c.*200G>C (n.*200G>C) c.-14G>C (n.-14G>C) c.852G>C (p.Arg284Ser) c.666G>C (p.Arg222Ser) c.606-5395G>C (n.606-5395G>C) c.291G>C (p.Arg97Ser) c.672G>C (p.Arg224Ser) | gnomAD v4 |
| 2 | g.48694244C>T | CA426018133 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.927G>A (p.Arg309=) c.3441+22564C>T (n.3441+22564C>T) c.866+4371G>A (n.866+4371G>A) c.276+22564C>T (n.276+22564C>T) c.*200G>A (n.*200G>A) c.-14G>A (n.-14G>A) c.852G>A (p.Arg284=) c.666G>A (p.Arg222=) c.606-5395G>A (n.606-5395G>A) c.291G>A (p.Arg97=) c.672G>A (p.Arg224=) | gnomAD v4 COSMIC |
| 2 | g.48694245C>A | CA346751560 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.926G>T (p.Arg309Met) c.3441+22565C>A (n.3441+22565C>A) c.866+4370G>T (n.866+4370G>T) c.276+22565C>A (n.276+22565C>A) c.*199G>T (n.*199G>T) c.-15G>T (n.-15G>T) c.851G>T (p.Arg284Met) c.665G>T (p.Arg222Met) c.606-5396G>T (n.606-5396G>T) c.290G>T (p.Arg97Met) c.671G>T (p.Arg224Met) | gnomAD v4 |
| 2 | g.48694245C>G | CA346751562 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.926G>C (p.Arg309Thr) c.3441+22565C>G (n.3441+22565C>G) c.866+4370G>C (n.866+4370G>C) c.276+22565C>G (n.276+22565C>G) c.*199G>C (n.*199G>C) c.-15G>C (n.-15G>C) c.851G>C (p.Arg284Thr) c.665G>C (p.Arg222Thr) c.606-5396G>C (n.606-5396G>C) c.290G>C (p.Arg97Thr) c.671G>C (p.Arg224Thr) | gnomAD v4 |
| 2 | g.48694245C>T | CA346751563 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.926G>A (p.Arg309Lys) c.3441+22565C>T (n.3441+22565C>T) c.866+4370G>A (n.866+4370G>A) c.276+22565C>T (n.276+22565C>T) c.*199G>A (n.*199G>A) c.-15G>A (n.-15G>A) c.851G>A (p.Arg284Lys) c.665G>A (p.Arg222Lys) c.606-5396G>A (n.606-5396G>A) c.290G>A (p.Arg97Lys) c.671G>A (p.Arg224Lys) | gnomAD v4 |
| 2 | g.48694246T>A | CA346751566 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.925A>T (p.Arg309Trp) c.3441+22566T>A (n.3441+22566T>A) c.866+4369A>T (n.866+4369A>T) c.276+22566T>A (n.276+22566T>A) c.*198A>T (n.*198A>T) c.-16A>T (n.-16A>T) c.850A>T (p.Arg284Trp) c.664A>T (p.Arg222Trp) c.606-5397A>T (n.606-5397A>T) c.289A>T (p.Arg97Trp) c.670A>T (p.Arg224Trp) | |
| 2 | g.48694246T>C | CA346751567 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.925A>G (p.Arg309Gly) c.3441+22566T>C (n.3441+22566T>C) c.866+4369A>G (n.866+4369A>G) c.276+22566T>C (n.276+22566T>C) c.*198A>G (n.*198A>G) c.-16A>G (n.-16A>G) c.850A>G (p.Arg284Gly) c.664A>G (p.Arg222Gly) c.606-5397A>G (n.606-5397A>G) c.289A>G (p.Arg97Gly) c.670A>G (p.Arg224Gly) | gnomAD v4 |
| 2 | g.48694246T>G | CA426018134 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.925A>C (p.Arg309=) c.3441+22566T>G (n.3441+22566T>G) c.866+4369A>C (n.866+4369A>C) c.276+22566T>G (n.276+22566T>G) c.*198A>C (n.*198A>C) c.-16A>C (n.-16A>C) c.850A>C (p.Arg284=) c.664A>C (p.Arg222=) c.606-5397A>C (n.606-5397A>C) c.289A>C (p.Arg97=) c.670A>C (p.Arg224=) | |
| 2 | g.48694247del | CA2658992272 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.925del (p.Arg309GlyfsTer3) c.3441+22567del (n.3441+22567del) c.866+4369del (n.866+4369del) c.276+22567del (n.276+22567del) c.*198del (n.*198del) c.-16del (n.-16del) c.850del (p.Arg284GlyfsTer3) c.664del (p.Arg222GlyfsTer3) c.606-5397del (n.606-5397del) c.289del (p.Arg97GlyfsTer3) c.670del (p.Arg224GlyfsTer3) | gnomAD v4 |
| 2 | g.48694247T>A | CA426018135 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.924A>T (p.Val308=) c.3441+22567T>A (n.3441+22567T>A) c.866+4368A>T (n.866+4368A>T) c.276+22567T>A (n.276+22567T>A) c.*197A>T (n.*197A>T) c.-17A>T (n.-17A>T) c.849A>T (p.Val283=) c.663A>T (p.Val221=) c.606-5398A>T (n.606-5398A>T) c.288A>T (p.Val96=) c.669A>T (p.Val223=) | |
| 2 | g.48694247T>C | CA426018137 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.924A>G (p.Val308=) c.3441+22567T>C (n.3441+22567T>C) c.866+4368A>G (n.866+4368A>G) c.276+22567T>C (n.276+22567T>C) c.*197A>G (n.*197A>G) c.-17A>G (n.-17A>G) c.849A>G (p.Val283=) c.663A>G (p.Val221=) c.606-5398A>G (n.606-5398A>G) c.288A>G (p.Val96=) c.669A>G (p.Val223=) | |
| 2 | g.48694247T>G | CA426018136 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.924A>C (p.Val308=) c.3441+22567T>G (n.3441+22567T>G) c.866+4368A>C (n.866+4368A>C) c.276+22567T>G (n.276+22567T>G) c.*197A>C (n.*197A>C) c.-17A>C (n.-17A>C) c.849A>C (p.Val283=) c.663A>C (p.Val221=) c.606-5398A>C (n.606-5398A>C) c.288A>C (p.Val96=) c.669A>C (p.Val223=) | |
| 2 | g.48694248del | CA2658992273 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.923del (p.Val308GlufsTer4) c.3441+22568del (n.3441+22568del) c.866+4367del (n.866+4367del) c.276+22568del (n.276+22568del) c.*196del (n.*196del) c.-18del (n.-18del) c.848del (p.Val283GlufsTer4) c.662del (p.Val221GlufsTer4) c.606-5399del (n.606-5399del) c.287del (p.Val96GlufsTer4) c.668del (p.Val223GlufsTer4) | gnomAD v4 |
| 2 | g.48694248A= | CA1248603968 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.923T= (p.Val308=) c.3441+22568A= (n.3441+22568A=) c.866+4367T= (n.866+4367T=) c.276+22568A= (n.276+22568A=) c.*196T= (n.*196T=) c.-18T= (n.-18T=) c.848T= (p.Val283=) c.662T= (p.Val221=) c.606-5399T= (n.606-5399T=) c.287T= (p.Val96=) c.668T= (p.Val223=) | |
| 2 | g.48694248A>C | CA346751569 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.923T>G (p.Val308Gly) c.3441+22568A>C (n.3441+22568A>C) c.866+4367T>G (n.866+4367T>G) c.276+22568A>C (n.276+22568A>C) c.*196T>G (n.*196T>G) c.-18T>G (n.-18T>G) c.848T>G (p.Val283Gly) c.662T>G (p.Val221Gly) c.606-5399T>G (n.606-5399T>G) c.287T>G (p.Val96Gly) c.668T>G (p.Val223Gly) | dbSNP gnomAD v4 |
| 2 | g.48694248A>G | CA346751571 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.923T>C (p.Val308Ala) c.3441+22568A>G (n.3441+22568A>G) c.866+4367T>C (n.866+4367T>C) c.276+22568A>G (n.276+22568A>G) c.*196T>C (n.*196T>C) c.-18T>C (n.-18T>C) c.848T>C (p.Val283Ala) c.662T>C (p.Val221Ala) c.606-5399T>C (n.606-5399T>C) c.287T>C (p.Val96Ala) c.668T>C (p.Val223Ala) | |
| 2 | g.48694248A>T | CA346751572 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.923T>A (p.Val308Glu) c.3441+22568A>T (n.3441+22568A>T) c.866+4367T>A (n.866+4367T>A) c.276+22568A>T (n.276+22568A>T) c.*196T>A (n.*196T>A) c.-18T>A (n.-18T>A) c.848T>A (p.Val283Glu) c.662T>A (p.Val221Glu) c.606-5399T>A (n.606-5399T>A) c.287T>A (p.Val96Glu) c.668T>A (p.Val223Glu) | gnomAD v4 |
| 2 | g.48694249C>A | CA346751574 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.922G>T (p.Val308Leu) c.3441+22569C>A (n.3441+22569C>A) c.866+4366G>T (n.866+4366G>T) c.276+22569C>A (n.276+22569C>A) c.*195G>T (n.*195G>T) c.-19G>T (n.-19G>T) c.847G>T (p.Val283Leu) c.661G>T (p.Val221Leu) c.606-5400G>T (n.606-5400G>T) c.286G>T (p.Val96Leu) c.667G>T (p.Val223Leu) | gnomAD v4 |
| 2 | g.48694249C>G | CA346751575 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.922G>C (p.Val308Leu) c.3441+22569C>G (n.3441+22569C>G) c.866+4366G>C (n.866+4366G>C) c.276+22569C>G (n.276+22569C>G) c.*195G>C (n.*195G>C) c.-19G>C (n.-19G>C) c.847G>C (p.Val283Leu) c.661G>C (p.Val221Leu) c.606-5400G>C (n.606-5400G>C) c.286G>C (p.Val96Leu) c.667G>C (p.Val223Leu) | |
| 2 | g.48694249C>T | CA346751577 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.922G>A (p.Val308Ile) c.3441+22569C>T (n.3441+22569C>T) c.866+4366G>A (n.866+4366G>A) c.276+22569C>T (n.276+22569C>T) c.*195G>A (n.*195G>A) c.-19G>A (n.-19G>A) c.847G>A (p.Val283Ile) c.661G>A (p.Val221Ile) c.606-5400G>A (n.606-5400G>A) c.286G>A (p.Val96Ile) c.667G>A (p.Val223Ile) | gnomAD v4 |
| 2 | g.48694250T>A | CA426018138 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.921A>T (p.Thr307=) c.3441+22570T>A (n.3441+22570T>A) c.866+4365A>T (n.866+4365A>T) c.276+22570T>A (n.276+22570T>A) c.*194A>T (n.*194A>T) c.-20A>T (n.-20A>T) c.846A>T (p.Thr282=) c.660A>T (p.Thr220=) c.606-5401A>T (n.606-5401A>T) c.285A>T (p.Thr95=) c.666A>T (p.Thr222=) | dbSNP gnomAD v2 |
| 2 | g.48694250T>C | CA426018140 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.921A>G (p.Thr307=) c.3441+22570T>C (n.3441+22570T>C) c.866+4365A>G (n.866+4365A>G) c.276+22570T>C (n.276+22570T>C) c.*194A>G (n.*194A>G) c.-20A>G (n.-20A>G) c.846A>G (p.Thr282=) c.660A>G (p.Thr220=) c.606-5401A>G (n.606-5401A>G) c.285A>G (p.Thr95=) c.666A>G (p.Thr222=) | gnomAD v4 |
| 2 | g.48694250T>G | CA426018139 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.921A>C (p.Thr307=) c.3441+22570T>G (n.3441+22570T>G) c.866+4365A>C (n.866+4365A>C) c.276+22570T>G (n.276+22570T>G) c.*194A>C (n.*194A>C) c.-20A>C (n.-20A>C) c.846A>C (p.Thr282=) c.660A>C (p.Thr220=) c.606-5401A>C (n.606-5401A>C) c.285A>C (p.Thr95=) c.666A>C (p.Thr222=) | |
| 2 | g.48694250T= | CA1248603969 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.921A= (p.Thr307=) c.3441+22570T= (n.3441+22570T=) c.866+4365A= (n.866+4365A=) c.276+22570T= (n.276+22570T=) c.*194A= (n.*194A=) c.-20A= (n.-20A=) c.846A= (p.Thr282=) c.660A= (p.Thr220=) c.606-5401A= (n.606-5401A=) c.285A= (p.Thr95=) c.666A= (p.Thr222=) | |
| 2 | g.48694251G>A | CA346751582 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.920C>T (p.Thr307Ile) c.3441+22571G>A (n.3441+22571G>A) c.866+4364C>T (n.866+4364C>T) c.276+22571G>A (n.276+22571G>A) c.*193C>T (n.*193C>T) c.-21C>T (n.-21C>T) c.845C>T (p.Thr282Ile) c.659C>T (p.Thr220Ile) c.606-5402C>T (n.606-5402C>T) c.284C>T (p.Thr95Ile) c.665C>T (p.Thr222Ile) | gnomAD v4 |
| 2 | g.48694251G>C | CA346751585 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.920C>G (p.Thr307Arg) c.3441+22571G>C (n.3441+22571G>C) c.866+4364C>G (n.866+4364C>G) c.276+22571G>C (n.276+22571G>C) c.*193C>G (n.*193C>G) c.-21C>G (n.-21C>G) c.845C>G (p.Thr282Arg) c.659C>G (p.Thr220Arg) c.606-5402C>G (n.606-5402C>G) c.284C>G (p.Thr95Arg) c.665C>G (p.Thr222Arg) | |
| 2 | g.48694251G>T | CA346751587 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.920C>A (p.Thr307Lys) c.3441+22571G>T (n.3441+22571G>T) c.866+4364C>A (n.866+4364C>A) c.276+22571G>T (n.276+22571G>T) c.*193C>A (n.*193C>A) c.-21C>A (n.-21C>A) c.845C>A (p.Thr282Lys) c.659C>A (p.Thr220Lys) c.606-5402C>A (n.606-5402C>A) c.284C>A (p.Thr95Lys) c.665C>A (p.Thr222Lys) | gnomAD v4 |
| 2 | g.48694252T>A | CA346751593 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.919A>T (p.Thr307Ser) c.3441+22572T>A (n.3441+22572T>A) c.866+4363A>T (n.866+4363A>T) c.276+22572T>A (n.276+22572T>A) c.*192A>T (n.*192A>T) c.-22A>T (n.-22A>T) c.844A>T (p.Thr282Ser) c.658A>T (p.Thr220Ser) c.606-5403A>T (n.606-5403A>T) c.283A>T (p.Thr95Ser) c.664A>T (p.Thr222Ser) | |
| 2 | g.48694252T>C | CA346751595 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.919A>G (p.Thr307Ala) c.3441+22572T>C (n.3441+22572T>C) c.866+4363A>G (n.866+4363A>G) c.276+22572T>C (n.276+22572T>C) c.*192A>G (n.*192A>G) c.-22A>G (n.-22A>G) c.844A>G (p.Thr282Ala) c.658A>G (p.Thr220Ala) c.606-5403A>G (n.606-5403A>G) c.283A>G (p.Thr95Ala) c.664A>G (p.Thr222Ala) | |
| 2 | g.48694252T>G | CA346751590 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.919A>C (p.Thr307Pro) c.3441+22572T>G (n.3441+22572T>G) c.866+4363A>C (n.866+4363A>C) c.276+22572T>G (n.276+22572T>G) c.*192A>C (n.*192A>C) c.-22A>C (n.-22A>C) c.844A>C (p.Thr282Pro) c.658A>C (p.Thr220Pro) c.606-5403A>C (n.606-5403A>C) c.283A>C (p.Thr95Pro) c.664A>C (p.Thr222Pro) | |
| 2 | g.48694253G>A | CA426018141 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.918C>T (p.Ser306=) c.3441+22573G>A (n.3441+22573G>A) c.866+4362C>T (n.866+4362C>T) c.276+22573G>A (n.276+22573G>A) c.*191C>T (n.*191C>T) c.-23C>T (n.-23C>T) c.843C>T (p.Ser281=) c.657C>T (p.Ser219=) c.606-5404C>T (n.606-5404C>T) c.282C>T (p.Ser94=) c.663C>T (p.Ser221=) | gnomAD v4 |
| 2 | g.48694253G>C | CA346751598 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.918C>G (p.Ser306Arg) c.3441+22573G>C (n.3441+22573G>C) c.866+4362C>G (n.866+4362C>G) c.276+22573G>C (n.276+22573G>C) c.*191C>G (n.*191C>G) c.-23C>G (n.-23C>G) c.843C>G (p.Ser281Arg) c.657C>G (p.Ser219Arg) c.606-5404C>G (n.606-5404C>G) c.282C>G (p.Ser94Arg) c.663C>G (p.Ser221Arg) | |
| 2 | g.48694253G>T | CA346751600 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.918C>A (p.Ser306Arg) c.3441+22573G>T (n.3441+22573G>T) c.866+4362C>A (n.866+4362C>A) c.276+22573G>T (n.276+22573G>T) c.*191C>A (n.*191C>A) c.-23C>A (n.-23C>A) c.843C>A (p.Ser281Arg) c.657C>A (p.Ser219Arg) c.606-5404C>A (n.606-5404C>A) c.282C>A (p.Ser94Arg) c.663C>A (p.Ser221Arg) | gnomAD v4 |
| 2 | g.48694254C>A | CA346751605 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.917G>T (p.Ser306Ile) c.3441+22574C>A (n.3441+22574C>A) c.866+4361G>T (n.866+4361G>T) c.276+22574C>A (n.276+22574C>A) c.*190G>T (n.*190G>T) c.-24G>T (n.-24G>T) c.842G>T (p.Ser281Ile) c.656G>T (p.Ser219Ile) c.606-5405G>T (n.606-5405G>T) c.281G>T (p.Ser94Ile) c.662G>T (p.Ser221Ile) | gnomAD v4 |
| 2 | g.48694254C>G | CA346751607 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.917G>C (p.Ser306Thr) c.3441+22574C>G (n.3441+22574C>G) c.866+4361G>C (n.866+4361G>C) c.276+22574C>G (n.276+22574C>G) c.*190G>C (n.*190G>C) c.-24G>C (n.-24G>C) c.842G>C (p.Ser281Thr) c.656G>C (p.Ser219Thr) c.606-5405G>C (n.606-5405G>C) c.281G>C (p.Ser94Thr) c.662G>C (p.Ser221Thr) | |
| 2 | g.48694254C>T | CA346751609 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.917G>A (p.Ser306Asn) c.3441+22574C>T (n.3441+22574C>T) c.866+4361G>A (n.866+4361G>A) c.276+22574C>T (n.276+22574C>T) c.*190G>A (n.*190G>A) c.-24G>A (n.-24G>A) c.842G>A (p.Ser281Asn) c.656G>A (p.Ser219Asn) c.606-5405G>A (n.606-5405G>A) c.281G>A (p.Ser94Asn) c.662G>A (p.Ser221Asn) | gnomAD v4 |
| 2 | g.48694255T>A | CA346751613 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.916A>T (p.Ser306Cys) c.3441+22575T>A (n.3441+22575T>A) c.866+4360A>T (n.866+4360A>T) c.276+22575T>A (n.276+22575T>A) c.*189A>T (n.*189A>T) c.-25A>T (n.-25A>T) c.841A>T (p.Ser281Cys) c.655A>T (p.Ser219Cys) c.606-5406A>T (n.606-5406A>T) c.280A>T (p.Ser94Cys) c.661A>T (p.Ser221Cys) | |
| 2 | g.48694255T>C | CA346751614 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.916A>G (p.Ser306Gly) c.3441+22575T>C (n.3441+22575T>C) c.866+4360A>G (n.866+4360A>G) c.276+22575T>C (n.276+22575T>C) c.*189A>G (n.*189A>G) c.-25A>G (n.-25A>G) c.841A>G (p.Ser281Gly) c.655A>G (p.Ser219Gly) c.606-5406A>G (n.606-5406A>G) c.280A>G (p.Ser94Gly) c.661A>G (p.Ser221Gly) | gnomAD v4 |
| 2 | g.48694255T>G | CA346751616 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.916A>C (p.Ser306Arg) c.3441+22575T>G (n.3441+22575T>G) c.866+4360A>C (n.866+4360A>C) c.276+22575T>G (n.276+22575T>G) c.*189A>C (n.*189A>C) c.-25A>C (n.-25A>C) c.841A>C (p.Ser281Arg) c.655A>C (p.Ser219Arg) c.606-5406A>C (n.606-5406A>C) c.280A>C (p.Ser94Arg) c.661A>C (p.Ser221Arg) | |
| 2 | g.48694257del | CA2658992274 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.916del (p.Ser306AlafsTer3) c.3441+22577del (n.3441+22577del) c.866+4360del (n.866+4360del) c.276+22577del (n.276+22577del) c.*189del (n.*189del) c.-25del (n.-25del) c.841del (p.Ser281AlafsTer3) c.655del (p.Ser219AlafsTer3) c.606-5406del (n.606-5406del) c.280del (p.Ser94AlafsTer3) c.661del (p.Ser221AlafsTer3) | gnomAD v4 |
| 2 | g.48694256T>A | CA346751619 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.915A>T (p.Glu305Asp) c.3441+22576T>A (n.3441+22576T>A) c.866+4359A>T (n.866+4359A>T) c.276+22576T>A (n.276+22576T>A) c.*188A>T (n.*188A>T) c.-26A>T (n.-26A>T) c.840A>T (p.Glu280Asp) c.654A>T (p.Glu218Asp) c.606-5407A>T (n.606-5407A>T) c.279A>T (p.Glu93Asp) c.660A>T (p.Glu220Asp) | |
| 2 | g.48694256T>C | CA426018142 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.915A>G (p.Glu305=) c.3441+22576T>C (n.3441+22576T>C) c.866+4359A>G (n.866+4359A>G) c.276+22576T>C (n.276+22576T>C) c.*188A>G (n.*188A>G) c.-26A>G (n.-26A>G) c.840A>G (p.Glu280=) c.654A>G (p.Glu218=) c.606-5407A>G (n.606-5407A>G) c.279A>G (p.Glu93=) c.660A>G (p.Glu220=) | |
| 2 | g.48694256T>G | CA346751620 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.915A>C (p.Glu305Asp) c.3441+22576T>G (n.3441+22576T>G) c.866+4359A>C (n.866+4359A>C) c.276+22576T>G (n.276+22576T>G) c.*188A>C (n.*188A>C) c.-26A>C (n.-26A>C) c.840A>C (p.Glu280Asp) c.654A>C (p.Glu218Asp) c.606-5407A>C (n.606-5407A>C) c.279A>C (p.Glu93Asp) c.660A>C (p.Glu220Asp) |