Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.48688694A= | CA1248601236 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1103T= (p.Leu368=) c.948-555T= (n.948-555T=) c.3441+17014A= (n.3441+17014A=) c.948-111T= (n.948-111T=) c.1022T= (p.Leu341=) c.276+17014A= (n.276+17014A=) c.*220+5530T= (n.*220+5530T=) c.146T= (p.Leu49=) c.173T= (p.Leu58=) c.1028T= (p.Leu343=) c.842T= (p.Leu281=) c.761T= (p.Leu254=) c.467T= (p.Leu156=) c.848T= (p.Leu283=) | |
2 | g.48688694A>C | CA346749649 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1103T>G (p.Leu368Arg) c.948-555T>G (n.948-555T>G) c.3441+17014A>C (n.3441+17014A>C) c.948-111T>G (n.948-111T>G) c.1022T>G (p.Leu341Arg) c.276+17014A>C (n.276+17014A>C) c.*220+5530T>G (n.*220+5530T>G) c.146T>G (p.Leu49Arg) c.173T>G (p.Leu58Arg) c.1028T>G (p.Leu343Arg) c.842T>G (p.Leu281Arg) c.761T>G (p.Leu254Arg) c.467T>G (p.Leu156Arg) c.848T>G (p.Leu283Arg) | |
2 | g.48688694A>G | CA123932 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1103T>C (p.Leu368Pro) c.948-555T>C (n.948-555T>C) c.3441+17014A>G (n.3441+17014A>G) c.948-111T>C (n.948-111T>C) c.1022T>C (p.Leu341Pro) c.276+17014A>G (n.276+17014A>G) c.*220+5530T>C (n.*220+5530T>C) c.146T>C (p.Leu49Pro) c.173T>C (p.Leu58Pro) c.1028T>C (p.Leu343Pro) c.842T>C (p.Leu281Pro) c.761T>C (p.Leu254Pro) c.467T>C (p.Leu156Pro) c.848T>C (p.Leu283Pro) | ClinVar dbSNP |
2 | g.48688694A>T | CA346749647 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1103T>A (p.Leu368Gln) c.948-555T>A (n.948-555T>A) c.3441+17014A>T (n.3441+17014A>T) c.948-111T>A (n.948-111T>A) c.1022T>A (p.Leu341Gln) c.276+17014A>T (n.276+17014A>T) c.*220+5530T>A (n.*220+5530T>A) c.146T>A (p.Leu49Gln) c.173T>A (p.Leu58Gln) c.1028T>A (p.Leu343Gln) c.842T>A (p.Leu281Gln) c.761T>A (p.Leu254Gln) c.467T>A (p.Leu156Gln) c.848T>A (p.Leu283Gln) | |
2 | g.48688695G>A | CA426124729 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1102C>T (p.Leu368=) c.948-556C>T (n.948-556C>T) c.3441+17015G>A (n.3441+17015G>A) c.948-112C>T (n.948-112C>T) c.1021C>T (p.Leu341=) c.276+17015G>A (n.276+17015G>A) c.*220+5529C>T (n.*220+5529C>T) c.145C>T (p.Leu49=) c.172C>T (p.Leu58=) c.1027C>T (p.Leu343=) c.841C>T (p.Leu281=) c.760C>T (p.Leu254=) c.466C>T (p.Leu156=) c.847C>T (p.Leu283=) | |
2 | g.48688695G>C | CA46753272 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1102C>G (p.Leu368Val) c.948-556C>G (n.948-556C>G) c.3441+17015G>C (n.3441+17015G>C) c.948-112C>G (n.948-112C>G) c.1021C>G (p.Leu341Val) c.276+17015G>C (n.276+17015G>C) c.*220+5529C>G (n.*220+5529C>G) c.145C>G (p.Leu49Val) c.172C>G (p.Leu58Val) c.1027C>G (p.Leu343Val) c.841C>G (p.Leu281Val) c.760C>G (p.Leu254Val) c.466C>G (p.Leu156Val) c.847C>G (p.Leu283Val) | dbSNP |
2 | g.48688695G= | CA1248601237 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1102C= (p.Leu368=) c.948-556C= (n.948-556C=) c.3441+17015G= (n.3441+17015G=) c.948-112C= (n.948-112C=) c.1021C= (p.Leu341=) c.276+17015G= (n.276+17015G=) c.*220+5529C= (n.*220+5529C=) c.145C= (p.Leu49=) c.172C= (p.Leu58=) c.1027C= (p.Leu343=) c.841C= (p.Leu281=) c.760C= (p.Leu254=) c.466C= (p.Leu156=) c.847C= (p.Leu283=) | |
2 | g.48688695G>T | CA346749653 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1102C>A (p.Leu368Met) c.948-556C>A (n.948-556C>A) c.3441+17015G>T (n.3441+17015G>T) c.948-112C>A (n.948-112C>A) c.1021C>A (p.Leu341Met) c.276+17015G>T (n.276+17015G>T) c.*220+5529C>A (n.*220+5529C>A) c.145C>A (p.Leu49Met) c.172C>A (p.Leu58Met) c.1027C>A (p.Leu343Met) c.841C>A (p.Leu281Met) c.760C>A (p.Leu254Met) c.466C>A (p.Leu156Met) c.847C>A (p.Leu283Met) | |
2 | g.48688696C>A | CA346749655 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1101G>T (p.Trp367Cys) c.948-557G>T (n.948-557G>T) c.3441+17016C>A (n.3441+17016C>A) c.948-113G>T (n.948-113G>T) c.1020G>T (p.Trp340Cys) c.276+17016C>A (n.276+17016C>A) c.*220+5528G>T (n.*220+5528G>T) c.144G>T (p.Trp48Cys) c.171G>T (p.Trp57Cys) c.1026G>T (p.Trp342Cys) c.840G>T (p.Trp280Cys) c.759G>T (p.Trp253Cys) c.465G>T (p.Trp155Cys) c.846G>T (p.Trp282Cys) | |
2 | g.48688696C>G | CA346749658 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1101G>C (p.Trp367Cys) c.948-557G>C (n.948-557G>C) c.3441+17016C>G (n.3441+17016C>G) c.948-113G>C (n.948-113G>C) c.1020G>C (p.Trp340Cys) c.276+17016C>G (n.276+17016C>G) c.*220+5528G>C (n.*220+5528G>C) c.144G>C (p.Trp48Cys) c.171G>C (p.Trp57Cys) c.1026G>C (p.Trp342Cys) c.840G>C (p.Trp280Cys) c.759G>C (p.Trp253Cys) c.465G>C (p.Trp155Cys) c.846G>C (p.Trp282Cys) | |
2 | g.48688696C>T | CA346749659 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1101G>A (p.Trp367Ter) c.948-557G>A (n.948-557G>A) c.3441+17016C>T (n.3441+17016C>T) c.948-113G>A (n.948-113G>A) c.1020G>A (p.Trp340Ter) c.276+17016C>T (n.276+17016C>T) c.*220+5528G>A (n.*220+5528G>A) c.144G>A (p.Trp48Ter) c.171G>A (p.Trp57Ter) c.1026G>A (p.Trp342Ter) c.840G>A (p.Trp280Ter) c.759G>A (p.Trp253Ter) c.465G>A (p.Trp155Ter) c.846G>A (p.Trp282Ter) | |
2 | g.48688697C>A | CA346749663 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1100G>T (p.Trp367Leu) c.948-558G>T (n.948-558G>T) c.3441+17017C>A (n.3441+17017C>A) c.948-114G>T (n.948-114G>T) c.1019G>T (p.Trp340Leu) c.276+17017C>A (n.276+17017C>A) c.*220+5527G>T (n.*220+5527G>T) c.143G>T (p.Trp48Leu) c.170G>T (p.Trp57Leu) c.1025G>T (p.Trp342Leu) c.839G>T (p.Trp280Leu) c.758G>T (p.Trp253Leu) c.464G>T (p.Trp155Leu) c.845G>T (p.Trp282Leu) | |
2 | g.48688697C>G | CA346749666 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1100G>C (p.Trp367Ser) c.948-558G>C (n.948-558G>C) c.3441+17017C>G (n.3441+17017C>G) c.948-114G>C (n.948-114G>C) c.1019G>C (p.Trp340Ser) c.276+17017C>G (n.276+17017C>G) c.*220+5527G>C (n.*220+5527G>C) c.143G>C (p.Trp48Ser) c.170G>C (p.Trp57Ser) c.1025G>C (p.Trp342Ser) c.839G>C (p.Trp280Ser) c.758G>C (p.Trp253Ser) c.464G>C (p.Trp155Ser) c.845G>C (p.Trp282Ser) | COSMIC |
2 | g.48688697C>T | CA346749670 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1100G>A (p.Trp367Ter) c.948-558G>A (n.948-558G>A) c.3441+17017C>T (n.3441+17017C>T) c.948-114G>A (n.948-114G>A) c.1019G>A (p.Trp340Ter) c.276+17017C>T (n.276+17017C>T) c.*220+5527G>A (n.*220+5527G>A) c.143G>A (p.Trp48Ter) c.170G>A (p.Trp57Ter) c.1025G>A (p.Trp342Ter) c.839G>A (p.Trp280Ter) c.758G>A (p.Trp253Ter) c.464G>A (p.Trp155Ter) c.845G>A (p.Trp282Ter) | |
2 | g.48688698A>C | CA346749674 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1099T>G (p.Trp367Gly) c.948-559T>G (n.948-559T>G) c.3441+17018A>C (n.3441+17018A>C) c.948-115T>G (n.948-115T>G) c.1018T>G (p.Trp340Gly) c.276+17018A>C (n.276+17018A>C) c.*220+5526T>G (n.*220+5526T>G) c.142T>G (p.Trp48Gly) c.169T>G (p.Trp57Gly) c.1024T>G (p.Trp342Gly) c.838T>G (p.Trp280Gly) c.757T>G (p.Trp253Gly) c.463T>G (p.Trp155Gly) c.844T>G (p.Trp282Gly) | |
2 | g.48688698A>G | CA346749679 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1099T>C (p.Trp367Arg) c.948-559T>C (n.948-559T>C) c.3441+17018A>G (n.3441+17018A>G) c.948-115T>C (n.948-115T>C) c.1018T>C (p.Trp340Arg) c.276+17018A>G (n.276+17018A>G) c.*220+5526T>C (n.*220+5526T>C) c.142T>C (p.Trp48Arg) c.169T>C (p.Trp57Arg) c.1024T>C (p.Trp342Arg) c.838T>C (p.Trp280Arg) c.757T>C (p.Trp253Arg) c.463T>C (p.Trp155Arg) c.844T>C (p.Trp282Arg) | |
2 | g.48688698A>T | CA346749677 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1099T>A (p.Trp367Arg) c.948-559T>A (n.948-559T>A) c.3441+17018A>T (n.3441+17018A>T) c.948-115T>A (n.948-115T>A) c.1018T>A (p.Trp340Arg) c.276+17018A>T (n.276+17018A>T) c.*220+5526T>A (n.*220+5526T>A) c.142T>A (p.Trp48Arg) c.169T>A (p.Trp57Arg) c.1024T>A (p.Trp342Arg) c.838T>A (p.Trp280Arg) c.757T>A (p.Trp253Arg) c.463T>A (p.Trp155Arg) c.844T>A (p.Trp282Arg) | |
2 | g.48688699A>C | CA346749682 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1098T>G (p.Ile366Met) c.948-560T>G (n.948-560T>G) c.3441+17019A>C (n.3441+17019A>C) c.948-116T>G (n.948-116T>G) c.1017T>G (p.Ile339Met) c.276+17019A>C (n.276+17019A>C) c.*220+5525T>G (n.*220+5525T>G) c.141T>G (p.Ile47Met) c.168T>G (p.Ile56Met) c.1023T>G (p.Ile341Met) c.837T>G (p.Ile279Met) c.756T>G (p.Ile252Met) c.462T>G (p.Ile154Met) c.843T>G (p.Ile281Met) | |
2 | g.48688699A>G | CA426124733 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1098T>C (p.Ile366=) c.948-560T>C (n.948-560T>C) c.3441+17019A>G (n.3441+17019A>G) c.948-116T>C (n.948-116T>C) c.1017T>C (p.Ile339=) c.276+17019A>G (n.276+17019A>G) c.*220+5525T>C (n.*220+5525T>C) c.141T>C (p.Ile47=) c.168T>C (p.Ile56=) c.1023T>C (p.Ile341=) c.837T>C (p.Ile279=) c.756T>C (p.Ile252=) c.462T>C (p.Ile154=) c.843T>C (p.Ile281=) | |
2 | g.48688699A>T | CA426124734 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1098T>A (p.Ile366=) c.948-560T>A (n.948-560T>A) c.3441+17019A>T (n.3441+17019A>T) c.948-116T>A (n.948-116T>A) c.1017T>A (p.Ile339=) c.276+17019A>T (n.276+17019A>T) c.*220+5525T>A (n.*220+5525T>A) c.141T>A (p.Ile47=) c.168T>A (p.Ile56=) c.1023T>A (p.Ile341=) c.837T>A (p.Ile279=) c.756T>A (p.Ile252=) c.462T>A (p.Ile154=) c.843T>A (p.Ile281=) | |
2 | g.48688700A= | CA1248601238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1097T= (p.Ile366=) c.948-561T= (n.948-561T=) c.3441+17020A= (n.3441+17020A=) c.948-117T= (n.948-117T=) c.1016T= (p.Ile339=) c.276+17020A= (n.276+17020A=) c.*220+5524T= (n.*220+5524T=) c.140T= (p.Ile47=) c.167T= (p.Ile56=) c.1022T= (p.Ile341=) c.836T= (p.Ile279=) c.755T= (p.Ile252=) c.461T= (p.Ile154=) c.842T= (p.Ile281=) | |
2 | g.48688700A>C | CA346749689 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1097T>G (p.Ile366Ser) c.948-561T>G (n.948-561T>G) c.3441+17020A>C (n.3441+17020A>C) c.948-117T>G (n.948-117T>G) c.1016T>G (p.Ile339Ser) c.276+17020A>C (n.276+17020A>C) c.*220+5524T>G (n.*220+5524T>G) c.140T>G (p.Ile47Ser) c.167T>G (p.Ile56Ser) c.1022T>G (p.Ile341Ser) c.836T>G (p.Ile279Ser) c.755T>G (p.Ile252Ser) c.461T>G (p.Ile154Ser) c.842T>G (p.Ile281Ser) | |
2 | g.48688700A>G | CA46753290 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1097T>C (p.Ile366Thr) c.948-561T>C (n.948-561T>C) c.3441+17020A>G (n.3441+17020A>G) c.948-117T>C (n.948-117T>C) c.1016T>C (p.Ile339Thr) c.276+17020A>G (n.276+17020A>G) c.*220+5524T>C (n.*220+5524T>C) c.140T>C (p.Ile47Thr) c.167T>C (p.Ile56Thr) c.1022T>C (p.Ile341Thr) c.836T>C (p.Ile279Thr) c.755T>C (p.Ile252Thr) c.461T>C (p.Ile154Thr) c.842T>C (p.Ile281Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688700A>T | CA346749692 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1097T>A (p.Ile366Asn) c.948-561T>A (n.948-561T>A) c.3441+17020A>T (n.3441+17020A>T) c.948-117T>A (n.948-117T>A) c.1016T>A (p.Ile339Asn) c.276+17020A>T (n.276+17020A>T) c.*220+5524T>A (n.*220+5524T>A) c.140T>A (p.Ile47Asn) c.167T>A (p.Ile56Asn) c.1022T>A (p.Ile341Asn) c.836T>A (p.Ile279Asn) c.755T>A (p.Ile252Asn) c.461T>A (p.Ile154Asn) c.842T>A (p.Ile281Asn) | |
2 | g.48688701T>A | CA346749694 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1096A>T (p.Ile366Phe) c.948-562A>T (n.948-562A>T) c.3441+17021T>A (n.3441+17021T>A) c.948-118A>T (n.948-118A>T) c.1015A>T (p.Ile339Phe) c.276+17021T>A (n.276+17021T>A) c.*220+5523A>T (n.*220+5523A>T) c.139A>T (p.Ile47Phe) c.166A>T (p.Ile56Phe) c.1021A>T (p.Ile341Phe) c.835A>T (p.Ile279Phe) c.754A>T (p.Ile252Phe) c.460A>T (p.Ile154Phe) c.841A>T (p.Ile281Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688701T>C | CA346749696 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1096A>G (p.Ile366Val) c.948-562A>G (n.948-562A>G) c.3441+17021T>C (n.3441+17021T>C) c.948-118A>G (n.948-118A>G) c.1015A>G (p.Ile339Val) c.276+17021T>C (n.276+17021T>C) c.*220+5523A>G (n.*220+5523A>G) c.139A>G (p.Ile47Val) c.166A>G (p.Ile56Val) c.1021A>G (p.Ile341Val) c.835A>G (p.Ile279Val) c.754A>G (p.Ile252Val) c.460A>G (p.Ile154Val) c.841A>G (p.Ile281Val) | COSMIC |
2 | g.48688701T>G | CA346749695 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1096A>C (p.Ile366Leu) c.948-562A>C (n.948-562A>C) c.3441+17021T>G (n.3441+17021T>G) c.948-118A>C (n.948-118A>C) c.1015A>C (p.Ile339Leu) c.276+17021T>G (n.276+17021T>G) c.*220+5523A>C (n.*220+5523A>C) c.139A>C (p.Ile47Leu) c.166A>C (p.Ile56Leu) c.1021A>C (p.Ile341Leu) c.835A>C (p.Ile279Leu) c.754A>C (p.Ile252Leu) c.460A>C (p.Ile154Leu) c.841A>C (p.Ile281Leu) | |
2 | g.48688701T= | CA1248601239 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1096A= (p.Ile366=) c.948-562A= (n.948-562A=) c.3441+17021T= (n.3441+17021T=) c.948-118A= (n.948-118A=) c.1015A= (p.Ile339=) c.276+17021T= (n.276+17021T=) c.*220+5523A= (n.*220+5523A=) c.139A= (p.Ile47=) c.166A= (p.Ile56=) c.1021A= (p.Ile341=) c.835A= (p.Ile279=) c.754A= (p.Ile252=) c.460A= (p.Ile154=) c.841A= (p.Ile281=) | |
2 | g.48688702C>A | CA46753307 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1095G>T (p.Leu365=) c.948-563G>T (n.948-563G>T) c.3441+17022C>A (n.3441+17022C>A) c.948-119G>T (n.948-119G>T) c.1014G>T (p.Leu338=) c.276+17022C>A (n.276+17022C>A) c.*220+5522G>T (n.*220+5522G>T) c.138G>T (p.Leu46=) c.165G>T (p.Leu55=) c.1020G>T (p.Leu340=) c.834G>T (p.Leu278=) c.753G>T (p.Leu251=) c.459G>T (p.Leu153=) c.840G>T (p.Leu280=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688702C= | CA1248601240 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1095G= (p.Leu365=) c.948-563G= (n.948-563G=) c.3441+17022C= (n.3441+17022C=) c.948-119G= (n.948-119G=) c.1014G= (p.Leu338=) c.276+17022C= (n.276+17022C=) c.*220+5522G= (n.*220+5522G=) c.138G= (p.Leu46=) c.165G= (p.Leu55=) c.1020G= (p.Leu340=) c.834G= (p.Leu278=) c.753G= (p.Leu251=) c.459G= (p.Leu153=) c.840G= (p.Leu280=) | |
2 | g.48688702C>G | CA1653081 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1095G>C (p.Leu365=) c.948-563G>C (n.948-563G>C) c.3441+17022C>G (n.3441+17022C>G) c.948-119G>C (n.948-119G>C) c.1014G>C (p.Leu338=) c.276+17022C>G (n.276+17022C>G) c.*220+5522G>C (n.*220+5522G>C) c.138G>C (p.Leu46=) c.165G>C (p.Leu55=) c.1020G>C (p.Leu340=) c.834G>C (p.Leu278=) c.753G>C (p.Leu251=) c.459G>C (p.Leu153=) c.840G>C (p.Leu280=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688702C>T | CA426124735 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1095G>A (p.Leu365=) c.948-563G>A (n.948-563G>A) c.3441+17022C>T (n.3441+17022C>T) c.948-119G>A (n.948-119G>A) c.1014G>A (p.Leu338=) c.276+17022C>T (n.276+17022C>T) c.*220+5522G>A (n.*220+5522G>A) c.138G>A (p.Leu46=) c.165G>A (p.Leu55=) c.1020G>A (p.Leu340=) c.834G>A (p.Leu278=) c.753G>A (p.Leu251=) c.459G>A (p.Leu153=) c.840G>A (p.Leu280=) | ClinVar |
2 | g.48688703A>C | CA346749697 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1094T>G (p.Leu365Arg) c.948-564T>G (n.948-564T>G) c.3441+17023A>C (n.3441+17023A>C) c.948-120T>G (n.948-120T>G) c.1013T>G (p.Leu338Arg) c.276+17023A>C (n.276+17023A>C) c.*220+5521T>G (n.*220+5521T>G) c.137T>G (p.Leu46Arg) c.164T>G (p.Leu55Arg) c.1019T>G (p.Leu340Arg) c.833T>G (p.Leu278Arg) c.752T>G (p.Leu251Arg) c.458T>G (p.Leu153Arg) c.839T>G (p.Leu280Arg) | |
2 | g.48688703A>G | CA346749700 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1094T>C (p.Leu365Pro) c.948-564T>C (n.948-564T>C) c.3441+17023A>G (n.3441+17023A>G) c.948-120T>C (n.948-120T>C) c.1013T>C (p.Leu338Pro) c.276+17023A>G (n.276+17023A>G) c.*220+5521T>C (n.*220+5521T>C) c.137T>C (p.Leu46Pro) c.164T>C (p.Leu55Pro) c.1019T>C (p.Leu340Pro) c.833T>C (p.Leu278Pro) c.752T>C (p.Leu251Pro) c.458T>C (p.Leu153Pro) c.839T>C (p.Leu280Pro) | |
2 | g.48688703A>T | CA346749701 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1094T>A (p.Leu365Gln) c.948-564T>A (n.948-564T>A) c.3441+17023A>T (n.3441+17023A>T) c.948-120T>A (n.948-120T>A) c.1013T>A (p.Leu338Gln) c.276+17023A>T (n.276+17023A>T) c.*220+5521T>A (n.*220+5521T>A) c.137T>A (p.Leu46Gln) c.164T>A (p.Leu55Gln) c.1019T>A (p.Leu340Gln) c.833T>A (p.Leu278Gln) c.752T>A (p.Leu251Gln) c.458T>A (p.Leu153Gln) c.839T>A (p.Leu280Gln) | |
2 | g.48688704G>A | CA426124737 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1093C>T (p.Leu365=) c.948-565C>T (n.948-565C>T) c.3441+17024G>A (n.3441+17024G>A) c.948-121C>T (n.948-121C>T) c.1012C>T (p.Leu338=) c.276+17024G>A (n.276+17024G>A) c.*220+5520C>T (n.*220+5520C>T) c.136C>T (p.Leu46=) c.163C>T (p.Leu55=) c.1018C>T (p.Leu340=) c.832C>T (p.Leu278=) c.751C>T (p.Leu251=) c.457C>T (p.Leu153=) c.838C>T (p.Leu280=) | |
2 | g.48688704G>C | CA346749704 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1093C>G (p.Leu365Val) c.948-565C>G (n.948-565C>G) c.3441+17024G>C (n.3441+17024G>C) c.948-121C>G (n.948-121C>G) c.1012C>G (p.Leu338Val) c.276+17024G>C (n.276+17024G>C) c.*220+5520C>G (n.*220+5520C>G) c.136C>G (p.Leu46Val) c.163C>G (p.Leu55Val) c.1018C>G (p.Leu340Val) c.832C>G (p.Leu278Val) c.751C>G (p.Leu251Val) c.457C>G (p.Leu153Val) c.838C>G (p.Leu280Val) | |
2 | g.48688704G>T | CA346749708 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1093C>A (p.Leu365Met) c.948-565C>A (n.948-565C>A) c.3441+17024G>T (n.3441+17024G>T) c.948-121C>A (n.948-121C>A) c.1012C>A (p.Leu338Met) c.276+17024G>T (n.276+17024G>T) c.*220+5520C>A (n.*220+5520C>A) c.136C>A (p.Leu46Met) c.163C>A (p.Leu55Met) c.1018C>A (p.Leu340Met) c.832C>A (p.Leu278Met) c.751C>A (p.Leu251Met) c.457C>A (p.Leu153Met) c.838C>A (p.Leu280Met) | |
2 | g.48688705G>A | CA426124740 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1092C>T (p.Val364=) c.948-566C>T (n.948-566C>T) c.3441+17025G>A (n.3441+17025G>A) c.948-122C>T (n.948-122C>T) c.1011C>T (p.Val337=) c.276+17025G>A (n.276+17025G>A) c.*220+5519C>T (n.*220+5519C>T) c.135C>T (p.Val45=) c.162C>T (p.Val54=) c.1017C>T (p.Val339=) c.831C>T (p.Val277=) c.750C>T (p.Val250=) c.456C>T (p.Val152=) c.837C>T (p.Val279=) | |
2 | g.48688705G>C | CA426124741 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1092C>G (p.Val364=) c.948-566C>G (n.948-566C>G) c.3441+17025G>C (n.3441+17025G>C) c.948-122C>G (n.948-122C>G) c.1011C>G (p.Val337=) c.276+17025G>C (n.276+17025G>C) c.*220+5519C>G (n.*220+5519C>G) c.135C>G (p.Val45=) c.162C>G (p.Val54=) c.1017C>G (p.Val339=) c.831C>G (p.Val277=) c.750C>G (p.Val250=) c.456C>G (p.Val152=) c.837C>G (p.Val279=) | |
2 | g.48688705G>T | CA426124742 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1092C>A (p.Val364=) c.948-566C>A (n.948-566C>A) c.3441+17025G>T (n.3441+17025G>T) c.948-122C>A (n.948-122C>A) c.1011C>A (p.Val337=) c.276+17025G>T (n.276+17025G>T) c.*220+5519C>A (n.*220+5519C>A) c.135C>A (p.Val45=) c.162C>A (p.Val54=) c.1017C>A (p.Val339=) c.831C>A (p.Val277=) c.750C>A (p.Val250=) c.456C>A (p.Val152=) c.837C>A (p.Val279=) | |
2 | g.48688706A>C | CA346749712 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1091T>G (p.Val364Gly) c.948-567T>G (n.948-567T>G) c.3441+17026A>C (n.3441+17026A>C) c.948-123T>G (n.948-123T>G) c.1010T>G (p.Val337Gly) c.276+17026A>C (n.276+17026A>C) c.*220+5518T>G (n.*220+5518T>G) c.134T>G (p.Val45Gly) c.161T>G (p.Val54Gly) c.1016T>G (p.Val339Gly) c.830T>G (p.Val277Gly) c.749T>G (p.Val250Gly) c.455T>G (p.Val152Gly) c.836T>G (p.Val279Gly) | |
2 | g.48688706A>G | CA346749715 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1091T>C (p.Val364Ala) c.948-567T>C (n.948-567T>C) c.3441+17026A>G (n.3441+17026A>G) c.948-123T>C (n.948-123T>C) c.1010T>C (p.Val337Ala) c.276+17026A>G (n.276+17026A>G) c.*220+5518T>C (n.*220+5518T>C) c.134T>C (p.Val45Ala) c.161T>C (p.Val54Ala) c.1016T>C (p.Val339Ala) c.830T>C (p.Val277Ala) c.749T>C (p.Val250Ala) c.455T>C (p.Val152Ala) c.836T>C (p.Val279Ala) | |
2 | g.48688706A>T | CA346749716 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1091T>A (p.Val364Asp) c.948-567T>A (n.948-567T>A) c.3441+17026A>T (n.3441+17026A>T) c.948-123T>A (n.948-123T>A) c.1010T>A (p.Val337Asp) c.276+17026A>T (n.276+17026A>T) c.*220+5518T>A (n.*220+5518T>A) c.134T>A (p.Val45Asp) c.161T>A (p.Val54Asp) c.1016T>A (p.Val339Asp) c.830T>A (p.Val277Asp) c.749T>A (p.Val250Asp) c.455T>A (p.Val152Asp) c.836T>A (p.Val279Asp) | |
2 | g.48688706dup | CA2658992088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1091dup (p.Leu365ProfsTer6) c.948-567dup (n.948-567dup) c.3441+17026dup (n.3441+17026dup) c.948-123dup (n.948-123dup) c.1010dup (p.Leu338ProfsTer6) c.276+17026dup (n.276+17026dup) c.*220+5518dup (n.*220+5518dup) c.134dup (p.Leu46ProfsTer6) c.161dup (p.Leu55ProfsTer6) c.1016dup (p.Leu340ProfsTer6) c.830dup (p.Leu278ProfsTer6) c.749dup (p.Leu251ProfsTer6) c.455dup (p.Leu153ProfsTer6) c.836dup (p.Leu280ProfsTer6) | gnomAD v4 |
2 | g.48688707C>A | CA346749718 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1090G>T (p.Val364Phe) c.948-568G>T (n.948-568G>T) c.3441+17027C>A (n.3441+17027C>A) c.948-124G>T (n.948-124G>T) c.1009G>T (p.Val337Phe) c.276+17027C>A (n.276+17027C>A) c.*220+5517G>T (n.*220+5517G>T) c.133G>T (p.Val45Phe) c.160G>T (p.Val54Phe) c.1015G>T (p.Val339Phe) c.829G>T (p.Val277Phe) c.748G>T (p.Val250Phe) c.454G>T (p.Val152Phe) c.835G>T (p.Val279Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688707C= | CA1248601241 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1090G= (p.Val364=) c.948-568G= (n.948-568G=) c.3441+17027C= (n.3441+17027C=) c.948-124G= (n.948-124G=) c.1009G= (p.Val337=) c.276+17027C= (n.276+17027C=) c.*220+5517G= (n.*220+5517G=) c.133G= (p.Val45=) c.160G= (p.Val54=) c.1015G= (p.Val339=) c.829G= (p.Val277=) c.748G= (p.Val250=) c.454G= (p.Val152=) c.835G= (p.Val279=) | |
2 | g.48688707C>G | CA346749729 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1090G>C (p.Val364Leu) c.948-568G>C (n.948-568G>C) c.3441+17027C>G (n.3441+17027C>G) c.948-124G>C (n.948-124G>C) c.1009G>C (p.Val337Leu) c.276+17027C>G (n.276+17027C>G) c.*220+5517G>C (n.*220+5517G>C) c.133G>C (p.Val45Leu) c.160G>C (p.Val54Leu) c.1015G>C (p.Val339Leu) c.829G>C (p.Val277Leu) c.748G>C (p.Val250Leu) c.454G>C (p.Val152Leu) c.835G>C (p.Val279Leu) | |
2 | g.48688707C>T | CA1653082 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1090G>A (p.Val364Ile) c.948-568G>A (n.948-568G>A) c.3441+17027C>T (n.3441+17027C>T) c.948-124G>A (n.948-124G>A) c.1009G>A (p.Val337Ile) c.276+17027C>T (n.276+17027C>T) c.*220+5517G>A (n.*220+5517G>A) c.133G>A (p.Val45Ile) c.160G>A (p.Val54Ile) c.1015G>A (p.Val339Ile) c.829G>A (p.Val277Ile) c.748G>A (p.Val250Ile) c.454G>A (p.Val152Ile) c.835G>A (p.Val279Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688708C>A | CA346749738 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1089G>T (p.Arg363Ser) c.948-569G>T (n.948-569G>T) c.3441+17028C>A (n.3441+17028C>A) c.948-125G>T (n.948-125G>T) c.1008G>T (p.Arg336Ser) c.276+17028C>A (n.276+17028C>A) c.*220+5516G>T (n.*220+5516G>T) c.132G>T (p.Arg44Ser) c.159G>T (p.Arg53Ser) c.1014G>T (p.Arg338Ser) c.828G>T (p.Arg276Ser) c.747G>T (p.Arg249Ser) c.453G>T (p.Arg151Ser) c.834G>T (p.Arg278Ser) | |
2 | g.48688708C= | CA1248601242 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1089G= (p.Arg363=) c.948-569G= (n.948-569G=) c.3441+17028C= (n.3441+17028C=) c.948-125G= (n.948-125G=) c.1008G= (p.Arg336=) c.276+17028C= (n.276+17028C=) c.*220+5516G= (n.*220+5516G=) c.132G= (p.Arg44=) c.159G= (p.Arg53=) c.1014G= (p.Arg338=) c.828G= (p.Arg276=) c.747G= (p.Arg249=) c.453G= (p.Arg151=) c.834G= (p.Arg278=) | |
2 | g.48688708C>G | CA346749740 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1089G>C (p.Arg363Ser) c.948-569G>C (n.948-569G>C) c.3441+17028C>G (n.3441+17028C>G) c.948-125G>C (n.948-125G>C) c.1008G>C (p.Arg336Ser) c.276+17028C>G (n.276+17028C>G) c.*220+5516G>C (n.*220+5516G>C) c.132G>C (p.Arg44Ser) c.159G>C (p.Arg53Ser) c.1014G>C (p.Arg338Ser) c.828G>C (p.Arg276Ser) c.747G>C (p.Arg249Ser) c.453G>C (p.Arg151Ser) c.834G>C (p.Arg278Ser) | |
2 | g.48688708C>T | CA1653083 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1089G>A (p.Arg363=) c.948-569G>A (n.948-569G>A) c.3441+17028C>T (n.3441+17028C>T) c.948-125G>A (n.948-125G>A) c.1008G>A (p.Arg336=) c.276+17028C>T (n.276+17028C>T) c.*220+5516G>A (n.*220+5516G>A) c.132G>A (p.Arg44=) c.159G>A (p.Arg53=) c.1014G>A (p.Arg338=) c.828G>A (p.Arg276=) c.747G>A (p.Arg249=) c.453G>A (p.Arg151=) c.834G>A (p.Arg278=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688709C>A | CA346749741 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1088G>T (p.Arg363Met) c.948-570G>T (n.948-570G>T) c.3441+17029C>A (n.3441+17029C>A) c.948-126G>T (n.948-126G>T) c.1007G>T (p.Arg336Met) c.276+17029C>A (n.276+17029C>A) c.*220+5515G>T (n.*220+5515G>T) c.131G>T (p.Arg44Met) c.158G>T (p.Arg53Met) c.1013G>T (p.Arg338Met) c.827G>T (p.Arg276Met) c.746G>T (p.Arg249Met) c.452G>T (p.Arg151Met) c.833G>T (p.Arg278Met) | |
2 | g.48688709C>G | CA346749743 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1088G>C (p.Arg363Thr) c.948-570G>C (n.948-570G>C) c.3441+17029C>G (n.3441+17029C>G) c.948-126G>C (n.948-126G>C) c.1007G>C (p.Arg336Thr) c.276+17029C>G (n.276+17029C>G) c.*220+5515G>C (n.*220+5515G>C) c.131G>C (p.Arg44Thr) c.158G>C (p.Arg53Thr) c.1013G>C (p.Arg338Thr) c.827G>C (p.Arg276Thr) c.746G>C (p.Arg249Thr) c.452G>C (p.Arg151Thr) c.833G>C (p.Arg278Thr) | |
2 | g.48688709C>T | CA346749744 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1088G>A (p.Arg363Lys) c.948-570G>A (n.948-570G>A) c.3441+17029C>T (n.3441+17029C>T) c.948-126G>A (n.948-126G>A) c.1007G>A (p.Arg336Lys) c.276+17029C>T (n.276+17029C>T) c.*220+5515G>A (n.*220+5515G>A) c.131G>A (p.Arg44Lys) c.158G>A (p.Arg53Lys) c.1013G>A (p.Arg338Lys) c.827G>A (p.Arg276Lys) c.746G>A (p.Arg249Lys) c.452G>A (p.Arg151Lys) c.833G>A (p.Arg278Lys) | |
2 | g.48688710T>A | CA346749746 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1087A>T (p.Arg363Trp) c.948-571A>T (n.948-571A>T) c.3441+17030T>A (n.3441+17030T>A) c.948-127A>T (n.948-127A>T) c.1006A>T (p.Arg336Trp) c.276+17030T>A (n.276+17030T>A) c.*220+5514A>T (n.*220+5514A>T) c.130A>T (p.Arg44Trp) c.157A>T (p.Arg53Trp) c.1012A>T (p.Arg338Trp) c.826A>T (p.Arg276Trp) c.745A>T (p.Arg249Trp) c.451A>T (p.Arg151Trp) c.832A>T (p.Arg278Trp) | |
2 | g.48688710T>C | CA346749749 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1087A>G (p.Arg363Gly) c.948-571A>G (n.948-571A>G) c.3441+17030T>C (n.3441+17030T>C) c.948-127A>G (n.948-127A>G) c.1006A>G (p.Arg336Gly) c.276+17030T>C (n.276+17030T>C) c.*220+5514A>G (n.*220+5514A>G) c.130A>G (p.Arg44Gly) c.157A>G (p.Arg53Gly) c.1012A>G (p.Arg338Gly) c.826A>G (p.Arg276Gly) c.745A>G (p.Arg249Gly) c.451A>G (p.Arg151Gly) c.832A>G (p.Arg278Gly) | |
2 | g.48688710T>G | CA426124744 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1087A>C (p.Arg363=) c.948-571A>C (n.948-571A>C) c.3441+17030T>G (n.3441+17030T>G) c.948-127A>C (n.948-127A>C) c.1006A>C (p.Arg336=) c.276+17030T>G (n.276+17030T>G) c.*220+5514A>C (n.*220+5514A>C) c.130A>C (p.Arg44=) c.157A>C (p.Arg53=) c.1012A>C (p.Arg338=) c.826A>C (p.Arg276=) c.745A>C (p.Arg249=) c.451A>C (p.Arg151=) c.832A>C (p.Arg278=) | |
2 | g.48688711A>C | CA426124750 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1086T>G (p.Leu362=) c.948-572T>G (n.948-572T>G) c.3441+17031A>C (n.3441+17031A>C) c.948-128T>G (n.948-128T>G) c.1005T>G (p.Leu335=) c.276+17031A>C (n.276+17031A>C) c.*220+5513T>G (n.*220+5513T>G) c.129T>G (p.Leu43=) c.156T>G (p.Leu52=) c.1011T>G (p.Leu337=) c.825T>G (p.Leu275=) c.744T>G (p.Leu248=) c.450T>G (p.Leu150=) c.831T>G (p.Leu277=) | |
2 | g.48688711A>G | CA426124746 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1086T>C (p.Leu362=) c.948-572T>C (n.948-572T>C) c.3441+17031A>G (n.3441+17031A>G) c.948-128T>C (n.948-128T>C) c.1005T>C (p.Leu335=) c.276+17031A>G (n.276+17031A>G) c.*220+5513T>C (n.*220+5513T>C) c.129T>C (p.Leu43=) c.156T>C (p.Leu52=) c.1011T>C (p.Leu337=) c.825T>C (p.Leu275=) c.744T>C (p.Leu248=) c.450T>C (p.Leu150=) c.831T>C (p.Leu277=) | |
2 | g.48688711A>T | CA426124748 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1086T>A (p.Leu362=) c.948-572T>A (n.948-572T>A) c.3441+17031A>T (n.3441+17031A>T) c.948-128T>A (n.948-128T>A) c.1005T>A (p.Leu335=) c.276+17031A>T (n.276+17031A>T) c.*220+5513T>A (n.*220+5513T>A) c.129T>A (p.Leu43=) c.156T>A (p.Leu52=) c.1011T>A (p.Leu337=) c.825T>A (p.Leu275=) c.744T>A (p.Leu248=) c.450T>A (p.Leu150=) c.831T>A (p.Leu277=) | |
2 | g.48688712A>C | CA346749751 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1085T>G (p.Leu362Arg) c.948-573T>G (n.948-573T>G) c.3441+17032A>C (n.3441+17032A>C) c.948-129T>G (n.948-129T>G) c.1004T>G (p.Leu335Arg) c.276+17032A>C (n.276+17032A>C) c.*220+5512T>G (n.*220+5512T>G) c.128T>G (p.Leu43Arg) c.155T>G (p.Leu52Arg) c.1010T>G (p.Leu337Arg) c.824T>G (p.Leu275Arg) c.743T>G (p.Leu248Arg) c.449T>G (p.Leu150Arg) c.830T>G (p.Leu277Arg) | |
2 | g.48688712A>G | CA346749755 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1085T>C (p.Leu362Pro) c.948-573T>C (n.948-573T>C) c.3441+17032A>G (n.3441+17032A>G) c.948-129T>C (n.948-129T>C) c.1004T>C (p.Leu335Pro) c.276+17032A>G (n.276+17032A>G) c.*220+5512T>C (n.*220+5512T>C) c.128T>C (p.Leu43Pro) c.155T>C (p.Leu52Pro) c.1010T>C (p.Leu337Pro) c.824T>C (p.Leu275Pro) c.743T>C (p.Leu248Pro) c.449T>C (p.Leu150Pro) c.830T>C (p.Leu277Pro) | |
2 | g.48688712A>T | CA346749768 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1085T>A (p.Leu362His) c.948-573T>A (n.948-573T>A) c.3441+17032A>T (n.3441+17032A>T) c.948-129T>A (n.948-129T>A) c.1004T>A (p.Leu335His) c.276+17032A>T (n.276+17032A>T) c.*220+5512T>A (n.*220+5512T>A) c.128T>A (p.Leu43His) c.155T>A (p.Leu52His) c.1010T>A (p.Leu337His) c.824T>A (p.Leu275His) c.743T>A (p.Leu248His) c.449T>A (p.Leu150His) c.830T>A (p.Leu277His) | gnomAD v4 |
2 | g.48688713G>A | CA346749771 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1084C>T (p.Leu362Phe) c.948-574C>T (n.948-574C>T) c.3441+17033G>A (n.3441+17033G>A) c.948-130C>T (n.948-130C>T) c.1003C>T (p.Leu335Phe) c.276+17033G>A (n.276+17033G>A) c.*220+5511C>T (n.*220+5511C>T) c.127C>T (p.Leu43Phe) c.154C>T (p.Leu52Phe) c.1009C>T (p.Leu337Phe) c.823C>T (p.Leu275Phe) c.742C>T (p.Leu248Phe) c.448C>T (p.Leu150Phe) c.829C>T (p.Leu277Phe) | gnomAD v4 |
2 | g.48688713G>C | CA346749777 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1084C>G (p.Leu362Val) c.948-574C>G (n.948-574C>G) c.3441+17033G>C (n.3441+17033G>C) c.948-130C>G (n.948-130C>G) c.1003C>G (p.Leu335Val) c.276+17033G>C (n.276+17033G>C) c.*220+5511C>G (n.*220+5511C>G) c.127C>G (p.Leu43Val) c.154C>G (p.Leu52Val) c.1009C>G (p.Leu337Val) c.823C>G (p.Leu275Val) c.742C>G (p.Leu248Val) c.448C>G (p.Leu150Val) c.829C>G (p.Leu277Val) | |
2 | g.48688713G>T | CA346749775 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1084C>A (p.Leu362Ile) c.948-574C>A (n.948-574C>A) c.3441+17033G>T (n.3441+17033G>T) c.948-130C>A (n.948-130C>A) c.1003C>A (p.Leu335Ile) c.276+17033G>T (n.276+17033G>T) c.*220+5511C>A (n.*220+5511C>A) c.127C>A (p.Leu43Ile) c.154C>A (p.Leu52Ile) c.1009C>A (p.Leu337Ile) c.823C>A (p.Leu275Ile) c.742C>A (p.Leu248Ile) c.448C>A (p.Leu150Ile) c.829C>A (p.Leu277Ile) | |
2 | g.48688714G>A | CA426124751 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1083C>T (p.Phe361=) c.948-575C>T (n.948-575C>T) c.3441+17034G>A (n.3441+17034G>A) c.948-131C>T (n.948-131C>T) c.1002C>T (p.Phe334=) c.276+17034G>A (n.276+17034G>A) c.*220+5510C>T (n.*220+5510C>T) c.126C>T (p.Phe42=) c.153C>T (p.Phe51=) c.1008C>T (p.Phe336=) c.822C>T (p.Phe274=) c.741C>T (p.Phe247=) c.447C>T (p.Phe149=) c.828C>T (p.Phe276=) | COSMIC |
2 | g.48688714G>C | CA346749780 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1083C>G (p.Phe361Leu) c.948-575C>G (n.948-575C>G) c.3441+17034G>C (n.3441+17034G>C) c.948-131C>G (n.948-131C>G) c.1002C>G (p.Phe334Leu) c.276+17034G>C (n.276+17034G>C) c.*220+5510C>G (n.*220+5510C>G) c.126C>G (p.Phe42Leu) c.153C>G (p.Phe51Leu) c.1008C>G (p.Phe336Leu) c.822C>G (p.Phe274Leu) c.741C>G (p.Phe247Leu) c.447C>G (p.Phe149Leu) c.828C>G (p.Phe276Leu) | |
2 | g.48688714G>T | CA346749781 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1083C>A (p.Phe361Leu) c.948-575C>A (n.948-575C>A) c.3441+17034G>T (n.3441+17034G>T) c.948-131C>A (n.948-131C>A) c.1002C>A (p.Phe334Leu) c.276+17034G>T (n.276+17034G>T) c.*220+5510C>A (n.*220+5510C>A) c.126C>A (p.Phe42Leu) c.153C>A (p.Phe51Leu) c.1008C>A (p.Phe336Leu) c.822C>A (p.Phe274Leu) c.741C>A (p.Phe247Leu) c.447C>A (p.Phe149Leu) c.828C>A (p.Phe276Leu) | |
2 | g.48688715A= | CA1248601243 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1082T= (p.Phe361=) c.948-576T= (n.948-576T=) c.3441+17035A= (n.3441+17035A=) c.948-132T= (n.948-132T=) c.1001T= (p.Phe334=) c.276+17035A= (n.276+17035A=) c.*220+5509T= (n.*220+5509T=) c.125T= (p.Phe42=) c.152T= (p.Phe51=) c.1007T= (p.Phe336=) c.821T= (p.Phe274=) c.740T= (p.Phe247=) c.446T= (p.Phe149=) c.827T= (p.Phe276=) | |
2 | g.48688715A>C | CA346749782 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1082T>G (p.Phe361Cys) c.948-576T>G (n.948-576T>G) c.3441+17035A>C (n.3441+17035A>C) c.948-132T>G (n.948-132T>G) c.1001T>G (p.Phe334Cys) c.276+17035A>C (n.276+17035A>C) c.*220+5509T>G (n.*220+5509T>G) c.125T>G (p.Phe42Cys) c.152T>G (p.Phe51Cys) c.1007T>G (p.Phe336Cys) c.821T>G (p.Phe274Cys) c.740T>G (p.Phe247Cys) c.446T>G (p.Phe149Cys) c.827T>G (p.Phe276Cys) | COSMIC |
2 | g.48688715A>G | CA1653084 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1082T>C (p.Phe361Ser) c.948-576T>C (n.948-576T>C) c.3441+17035A>G (n.3441+17035A>G) c.948-132T>C (n.948-132T>C) c.1001T>C (p.Phe334Ser) c.276+17035A>G (n.276+17035A>G) c.*220+5509T>C (n.*220+5509T>C) c.125T>C (p.Phe42Ser) c.152T>C (p.Phe51Ser) c.1007T>C (p.Phe336Ser) c.821T>C (p.Phe274Ser) c.740T>C (p.Phe247Ser) c.446T>C (p.Phe149Ser) c.827T>C (p.Phe276Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688715A>T | CA346749785 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1082T>A (p.Phe361Tyr) c.948-576T>A (n.948-576T>A) c.3441+17035A>T (n.3441+17035A>T) c.948-132T>A (n.948-132T>A) c.1001T>A (p.Phe334Tyr) c.276+17035A>T (n.276+17035A>T) c.*220+5509T>A (n.*220+5509T>A) c.125T>A (p.Phe42Tyr) c.152T>A (p.Phe51Tyr) c.1007T>A (p.Phe336Tyr) c.821T>A (p.Phe274Tyr) c.740T>A (p.Phe247Tyr) c.446T>A (p.Phe149Tyr) c.827T>A (p.Phe276Tyr) | |
2 | g.48688716A>C | CA346749786 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1081T>G (p.Phe361Val) c.948-577T>G (n.948-577T>G) c.3441+17036A>C (n.3441+17036A>C) c.948-133T>G (n.948-133T>G) c.1000T>G (p.Phe334Val) c.276+17036A>C (n.276+17036A>C) c.*220+5508T>G (n.*220+5508T>G) c.124T>G (p.Phe42Val) c.151T>G (p.Phe51Val) c.1006T>G (p.Phe336Val) c.820T>G (p.Phe274Val) c.739T>G (p.Phe247Val) c.445T>G (p.Phe149Val) c.826T>G (p.Phe276Val) | |
2 | g.48688716A>G | CA346749789 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1081T>C (p.Phe361Leu) c.948-577T>C (n.948-577T>C) c.3441+17036A>G (n.3441+17036A>G) c.948-133T>C (n.948-133T>C) c.1000T>C (p.Phe334Leu) c.276+17036A>G (n.276+17036A>G) c.*220+5508T>C (n.*220+5508T>C) c.124T>C (p.Phe42Leu) c.151T>C (p.Phe51Leu) c.1006T>C (p.Phe336Leu) c.820T>C (p.Phe274Leu) c.739T>C (p.Phe247Leu) c.445T>C (p.Phe149Leu) c.826T>C (p.Phe276Leu) | |
2 | g.48688716A>T | CA346749788 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1081T>A (p.Phe361Ile) c.948-577T>A (n.948-577T>A) c.3441+17036A>T (n.3441+17036A>T) c.948-133T>A (n.948-133T>A) c.1000T>A (p.Phe334Ile) c.276+17036A>T (n.276+17036A>T) c.*220+5508T>A (n.*220+5508T>A) c.124T>A (p.Phe42Ile) c.151T>A (p.Phe51Ile) c.1006T>A (p.Phe336Ile) c.820T>A (p.Phe274Ile) c.739T>A (p.Phe247Ile) c.445T>A (p.Phe149Ile) c.826T>A (p.Phe276Ile) | |
2 | g.48688717G>A | CA426124753 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1080C>T (p.Asp360=) c.948-578C>T (n.948-578C>T) c.3441+17037G>A (n.3441+17037G>A) c.948-134C>T (n.948-134C>T) c.999C>T (p.Asp333=) c.276+17037G>A (n.276+17037G>A) c.*220+5507C>T (n.*220+5507C>T) c.123C>T (p.Asp41=) c.150C>T (p.Asp50=) c.1005C>T (p.Asp335=) c.819C>T (p.Asp273=) c.738C>T (p.Asp246=) c.444C>T (p.Asp148=) c.825C>T (p.Asp275=) | |
2 | g.48688717G>C | CA346749792 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1080C>G (p.Asp360Glu) c.948-578C>G (n.948-578C>G) c.3441+17037G>C (n.3441+17037G>C) c.948-134C>G (n.948-134C>G) c.999C>G (p.Asp333Glu) c.276+17037G>C (n.276+17037G>C) c.*220+5507C>G (n.*220+5507C>G) c.123C>G (p.Asp41Glu) c.150C>G (p.Asp50Glu) c.1005C>G (p.Asp335Glu) c.819C>G (p.Asp273Glu) c.738C>G (p.Asp246Glu) c.444C>G (p.Asp148Glu) c.825C>G (p.Asp275Glu) | |
2 | g.48688717G>T | CA346749797 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1080C>A (p.Asp360Glu) c.948-578C>A (n.948-578C>A) c.3441+17037G>T (n.3441+17037G>T) c.948-134C>A (n.948-134C>A) c.999C>A (p.Asp333Glu) c.276+17037G>T (n.276+17037G>T) c.*220+5507C>A (n.*220+5507C>A) c.123C>A (p.Asp41Glu) c.150C>A (p.Asp50Glu) c.1005C>A (p.Asp335Glu) c.819C>A (p.Asp273Glu) c.738C>A (p.Asp246Glu) c.444C>A (p.Asp148Glu) c.825C>A (p.Asp275Glu) | |
2 | g.48688718T>A | CA346749802 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1079A>T (p.Asp360Val) c.948-579A>T (n.948-579A>T) c.3441+17038T>A (n.3441+17038T>A) c.948-135A>T (n.948-135A>T) c.998A>T (p.Asp333Val) c.276+17038T>A (n.276+17038T>A) c.*220+5506A>T (n.*220+5506A>T) c.122A>T (p.Asp41Val) c.149A>T (p.Asp50Val) c.1004A>T (p.Asp335Val) c.818A>T (p.Asp273Val) c.737A>T (p.Asp246Val) c.443A>T (p.Asp148Val) c.824A>T (p.Asp275Val) | |
2 | g.48688718T>C | CA346749804 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1079A>G (p.Asp360Gly) c.948-579A>G (n.948-579A>G) c.3441+17038T>C (n.3441+17038T>C) c.948-135A>G (n.948-135A>G) c.998A>G (p.Asp333Gly) c.276+17038T>C (n.276+17038T>C) c.*220+5506A>G (n.*220+5506A>G) c.122A>G (p.Asp41Gly) c.149A>G (p.Asp50Gly) c.1004A>G (p.Asp335Gly) c.818A>G (p.Asp273Gly) c.737A>G (p.Asp246Gly) c.443A>G (p.Asp148Gly) c.824A>G (p.Asp275Gly) | |
2 | g.48688718T>G | CA346749807 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1079A>C (p.Asp360Ala) c.948-579A>C (n.948-579A>C) c.3441+17038T>G (n.3441+17038T>G) c.948-135A>C (n.948-135A>C) c.998A>C (p.Asp333Ala) c.276+17038T>G (n.276+17038T>G) c.*220+5506A>C (n.*220+5506A>C) c.122A>C (p.Asp41Ala) c.149A>C (p.Asp50Ala) c.1004A>C (p.Asp335Ala) c.818A>C (p.Asp273Ala) c.737A>C (p.Asp246Ala) c.443A>C (p.Asp148Ala) c.824A>C (p.Asp275Ala) | |
2 | g.48688719_48688721del | CA2749836838 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1077_1079del (p.Asp360del) c.948-581_948-579del (n.948-581_948-579del) c.3441+17039_3441+17041del (n.3441+17039_3441+17041del) c.948-137_948-135del (n.948-137_948-135del) c.996_998del (p.Asp333del) c.276+17039_276+17041del (n.276+17039_276+17041del) c.*220+5504_*220+5506del (n.*220+5504_*220+5506del) c.120_122del (p.Asp41del) c.147_149del (p.Asp50del) c.1002_1004del (p.Asp335del) c.816_818del (p.Asp273del) c.735_737del (p.Asp246del) c.441_443del (p.Asp148del) c.822_824del (p.Asp275del) | |
2 | g.48688719C>A | CA346749810 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1078G>T (p.Asp360Tyr) c.948-580G>T (n.948-580G>T) c.3441+17039C>A (n.3441+17039C>A) c.948-136G>T (n.948-136G>T) c.997G>T (p.Asp333Tyr) c.276+17039C>A (n.276+17039C>A) c.*220+5505G>T (n.*220+5505G>T) c.121G>T (p.Asp41Tyr) c.148G>T (p.Asp50Tyr) c.1003G>T (p.Asp335Tyr) c.817G>T (p.Asp273Tyr) c.736G>T (p.Asp246Tyr) c.442G>T (p.Asp148Tyr) c.823G>T (p.Asp275Tyr) | gnomAD v4 |
2 | g.48688719C>G | CA346749812 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1078G>C (p.Asp360His) c.948-580G>C (n.948-580G>C) c.3441+17039C>G (n.3441+17039C>G) c.948-136G>C (n.948-136G>C) c.997G>C (p.Asp333His) c.276+17039C>G (n.276+17039C>G) c.*220+5505G>C (n.*220+5505G>C) c.121G>C (p.Asp41His) c.148G>C (p.Asp50His) c.1003G>C (p.Asp335His) c.817G>C (p.Asp273His) c.736G>C (p.Asp246His) c.442G>C (p.Asp148His) c.823G>C (p.Asp275His) | gnomAD v4 |
2 | g.48688719C>T | CA346749820 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1078G>A (p.Asp360Asn) c.948-580G>A (n.948-580G>A) c.3441+17039C>T (n.3441+17039C>T) c.948-136G>A (n.948-136G>A) c.997G>A (p.Asp333Asn) c.276+17039C>T (n.276+17039C>T) c.*220+5505G>A (n.*220+5505G>A) c.121G>A (p.Asp41Asn) c.148G>A (p.Asp50Asn) c.1003G>A (p.Asp335Asn) c.817G>A (p.Asp273Asn) c.736G>A (p.Asp246Asn) c.442G>A (p.Asp148Asn) c.823G>A (p.Asp275Asn) | |
2 | g.48688720A>C | CA346749822 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1077T>G (p.Tyr359Ter) c.948-581T>G (n.948-581T>G) c.3441+17040A>C (n.3441+17040A>C) c.948-137T>G (n.948-137T>G) c.996T>G (p.Tyr332Ter) c.276+17040A>C (n.276+17040A>C) c.*220+5504T>G (n.*220+5504T>G) c.120T>G (p.Tyr40Ter) c.147T>G (p.Tyr49Ter) c.1002T>G (p.Tyr334Ter) c.816T>G (p.Tyr272Ter) c.735T>G (p.Tyr245Ter) c.441T>G (p.Tyr147Ter) c.822T>G (p.Tyr274Ter) | |
2 | g.48688720A>G | CA426124755 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1077T>C (p.Tyr359=) c.948-581T>C (n.948-581T>C) c.3441+17040A>G (n.3441+17040A>G) c.948-137T>C (n.948-137T>C) c.996T>C (p.Tyr332=) c.276+17040A>G (n.276+17040A>G) c.*220+5504T>C (n.*220+5504T>C) c.120T>C (p.Tyr40=) c.147T>C (p.Tyr49=) c.1002T>C (p.Tyr334=) c.816T>C (p.Tyr272=) c.735T>C (p.Tyr245=) c.441T>C (p.Tyr147=) c.822T>C (p.Tyr274=) | |
2 | g.48688720A>T | CA346749824 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1077T>A (p.Tyr359Ter) c.948-581T>A (n.948-581T>A) c.3441+17040A>T (n.3441+17040A>T) c.948-137T>A (n.948-137T>A) c.996T>A (p.Tyr332Ter) c.276+17040A>T (n.276+17040A>T) c.*220+5504T>A (n.*220+5504T>A) c.120T>A (p.Tyr40Ter) c.147T>A (p.Tyr49Ter) c.1002T>A (p.Tyr334Ter) c.816T>A (p.Tyr272Ter) c.735T>A (p.Tyr245Ter) c.441T>A (p.Tyr147Ter) c.822T>A (p.Tyr274Ter) | |
2 | g.48688721T>A | CA346749825 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1076A>T (p.Tyr359Phe) c.948-582A>T (n.948-582A>T) c.3441+17041T>A (n.3441+17041T>A) c.948-138A>T (n.948-138A>T) c.995A>T (p.Tyr332Phe) c.276+17041T>A (n.276+17041T>A) c.*220+5503A>T (n.*220+5503A>T) c.119A>T (p.Tyr40Phe) c.146A>T (p.Tyr49Phe) c.1001A>T (p.Tyr334Phe) c.815A>T (p.Tyr272Phe) c.734A>T (p.Tyr245Phe) c.440A>T (p.Tyr147Phe) c.821A>T (p.Tyr274Phe) | |
2 | g.48688721T>C | CA346749827 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1076A>G (p.Tyr359Cys) c.948-582A>G (n.948-582A>G) c.3441+17041T>C (n.3441+17041T>C) c.948-138A>G (n.948-138A>G) c.995A>G (p.Tyr332Cys) c.276+17041T>C (n.276+17041T>C) c.*220+5503A>G (n.*220+5503A>G) c.119A>G (p.Tyr40Cys) c.146A>G (p.Tyr49Cys) c.1001A>G (p.Tyr334Cys) c.815A>G (p.Tyr272Cys) c.734A>G (p.Tyr245Cys) c.440A>G (p.Tyr147Cys) c.821A>G (p.Tyr274Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688721T>G | CA346749828 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1076A>C (p.Tyr359Ser) c.948-582A>C (n.948-582A>C) c.3441+17041T>G (n.3441+17041T>G) c.948-138A>C (n.948-138A>C) c.995A>C (p.Tyr332Ser) c.276+17041T>G (n.276+17041T>G) c.*220+5503A>C (n.*220+5503A>C) c.119A>C (p.Tyr40Ser) c.146A>C (p.Tyr49Ser) c.1001A>C (p.Tyr334Ser) c.815A>C (p.Tyr272Ser) c.734A>C (p.Tyr245Ser) c.440A>C (p.Tyr147Ser) c.821A>C (p.Tyr274Ser) | |
2 | g.48688721T= | CA1248601244 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1076A= (p.Tyr359=) c.948-582A= (n.948-582A=) c.3441+17041T= (n.3441+17041T=) c.948-138A= (n.948-138A=) c.995A= (p.Tyr332=) c.276+17041T= (n.276+17041T=) c.*220+5503A= (n.*220+5503A=) c.119A= (p.Tyr40=) c.146A= (p.Tyr49=) c.1001A= (p.Tyr334=) c.815A= (p.Tyr272=) c.734A= (p.Tyr245=) c.440A= (p.Tyr147=) c.821A= (p.Tyr274=) | |
2 | g.48688722A>C | CA346749831 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1075T>G (p.Tyr359Asp) c.948-583T>G (n.948-583T>G) c.3441+17042A>C (n.3441+17042A>C) c.948-139T>G (n.948-139T>G) c.994T>G (p.Tyr332Asp) c.276+17042A>C (n.276+17042A>C) c.*220+5502T>G (n.*220+5502T>G) c.118T>G (p.Tyr40Asp) c.145T>G (p.Tyr49Asp) c.1000T>G (p.Tyr334Asp) c.814T>G (p.Tyr272Asp) c.733T>G (p.Tyr245Asp) c.439T>G (p.Tyr147Asp) c.820T>G (p.Tyr274Asp) | |
2 | g.48688722A>G | CA346749835 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1075T>C (p.Tyr359His) c.948-583T>C (n.948-583T>C) c.3441+17042A>G (n.3441+17042A>G) c.948-139T>C (n.948-139T>C) c.994T>C (p.Tyr332His) c.276+17042A>G (n.276+17042A>G) c.*220+5502T>C (n.*220+5502T>C) c.118T>C (p.Tyr40His) c.145T>C (p.Tyr49His) c.1000T>C (p.Tyr334His) c.814T>C (p.Tyr272His) c.733T>C (p.Tyr245His) c.439T>C (p.Tyr147His) c.820T>C (p.Tyr274His) | |
2 | g.48688722A>T | CA346749834 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1075T>A (p.Tyr359Asn) c.948-583T>A (n.948-583T>A) c.3441+17042A>T (n.3441+17042A>T) c.948-139T>A (n.948-139T>A) c.994T>A (p.Tyr332Asn) c.276+17042A>T (n.276+17042A>T) c.*220+5502T>A (n.*220+5502T>A) c.118T>A (p.Tyr40Asn) c.145T>A (p.Tyr49Asn) c.1000T>A (p.Tyr334Asn) c.814T>A (p.Tyr272Asn) c.733T>A (p.Tyr245Asn) c.439T>A (p.Tyr147Asn) c.820T>A (p.Tyr274Asn) | |
2 | g.48688723G>A | CA426124759 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1074C>T (p.Gly358=) c.948-584C>T (n.948-584C>T) c.3441+17043G>A (n.3441+17043G>A) c.948-140C>T (n.948-140C>T) c.993C>T (p.Gly331=) c.276+17043G>A (n.276+17043G>A) c.*220+5501C>T (n.*220+5501C>T) c.117C>T (p.Gly39=) c.144C>T (p.Gly48=) c.999C>T (p.Gly333=) c.813C>T (p.Gly271=) c.732C>T (p.Gly244=) c.438C>T (p.Gly146=) c.819C>T (p.Gly273=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688723G>C | CA426124760 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1074C>G (p.Gly358=) c.948-584C>G (n.948-584C>G) c.3441+17043G>C (n.3441+17043G>C) c.948-140C>G (n.948-140C>G) c.993C>G (p.Gly331=) c.276+17043G>C (n.276+17043G>C) c.*220+5501C>G (n.*220+5501C>G) c.117C>G (p.Gly39=) c.144C>G (p.Gly48=) c.999C>G (p.Gly333=) c.813C>G (p.Gly271=) c.732C>G (p.Gly244=) c.438C>G (p.Gly146=) c.819C>G (p.Gly273=) | |
2 | g.48688723G= | CA1248601245 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1074C= (p.Gly358=) c.948-584C= (n.948-584C=) c.3441+17043G= (n.3441+17043G=) c.948-140C= (n.948-140C=) c.993C= (p.Gly331=) c.276+17043G= (n.276+17043G=) c.*220+5501C= (n.*220+5501C=) c.117C= (p.Gly39=) c.144C= (p.Gly48=) c.999C= (p.Gly333=) c.813C= (p.Gly271=) c.732C= (p.Gly244=) c.438C= (p.Gly146=) c.819C= (p.Gly273=) | |
2 | g.48688723G>T | CA426124761 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1074C>A (p.Gly358=) c.948-584C>A (n.948-584C>A) c.3441+17043G>T (n.3441+17043G>T) c.948-140C>A (n.948-140C>A) c.993C>A (p.Gly331=) c.276+17043G>T (n.276+17043G>T) c.*220+5501C>A (n.*220+5501C>A) c.117C>A (p.Gly39=) c.144C>A (p.Gly48=) c.999C>A (p.Gly333=) c.813C>A (p.Gly271=) c.732C>A (p.Gly244=) c.438C>A (p.Gly146=) c.819C>A (p.Gly273=) | |
2 | g.48688724C>A | CA346749838 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1073G>T (p.Gly358Val) c.948-585G>T (n.948-585G>T) c.3441+17044C>A (n.3441+17044C>A) c.948-141G>T (n.948-141G>T) c.992G>T (p.Gly331Val) c.276+17044C>A (n.276+17044C>A) c.*220+5500G>T (n.*220+5500G>T) c.116G>T (p.Gly39Val) c.143G>T (p.Gly48Val) c.998G>T (p.Gly333Val) c.812G>T (p.Gly271Val) c.731G>T (p.Gly244Val) c.437G>T (p.Gly146Val) c.818G>T (p.Gly273Val) | |
2 | g.48688724C= | CA1248601246 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1073G= (p.Gly358=) c.948-585G= (n.948-585G=) c.3441+17044C= (n.3441+17044C=) c.948-141G= (n.948-141G=) c.992G= (p.Gly331=) c.276+17044C= (n.276+17044C=) c.*220+5500G= (n.*220+5500G=) c.116G= (p.Gly39=) c.143G= (p.Gly48=) c.998G= (p.Gly333=) c.812G= (p.Gly271=) c.731G= (p.Gly244=) c.437G= (p.Gly146=) c.818G= (p.Gly273=) | |
2 | g.48688724C>G | CA346749841 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1073G>C (p.Gly358Ala) c.948-585G>C (n.948-585G>C) c.3441+17044C>G (n.3441+17044C>G) c.948-141G>C (n.948-141G>C) c.992G>C (p.Gly331Ala) c.276+17044C>G (n.276+17044C>G) c.*220+5500G>C (n.*220+5500G>C) c.116G>C (p.Gly39Ala) c.143G>C (p.Gly48Ala) c.998G>C (p.Gly333Ala) c.812G>C (p.Gly271Ala) c.731G>C (p.Gly244Ala) c.437G>C (p.Gly146Ala) c.818G>C (p.Gly273Ala) | |
2 | g.48688724C>T | CA346749843 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1073G>A (p.Gly358Asp) c.948-585G>A (n.948-585G>A) c.3441+17044C>T (n.3441+17044C>T) c.948-141G>A (n.948-141G>A) c.992G>A (p.Gly331Asp) c.276+17044C>T (n.276+17044C>T) c.*220+5500G>A (n.*220+5500G>A) c.116G>A (p.Gly39Asp) c.143G>A (p.Gly48Asp) c.998G>A (p.Gly333Asp) c.812G>A (p.Gly271Asp) c.731G>A (p.Gly244Asp) c.437G>A (p.Gly146Asp) c.818G>A (p.Gly273Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688725C>A | CA346749845 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1072G>T (p.Gly358Cys) c.948-586G>T (n.948-586G>T) c.3441+17045C>A (n.3441+17045C>A) c.948-142G>T (n.948-142G>T) c.991G>T (p.Gly331Cys) c.276+17045C>A (n.276+17045C>A) c.*220+5499G>T (n.*220+5499G>T) c.115G>T (p.Gly39Cys) c.142G>T (p.Gly48Cys) c.997G>T (p.Gly333Cys) c.811G>T (p.Gly271Cys) c.730G>T (p.Gly244Cys) c.436G>T (p.Gly146Cys) c.817G>T (p.Gly273Cys) | |
2 | g.48688725C>G | CA346749847 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1072G>C (p.Gly358Arg) c.948-586G>C (n.948-586G>C) c.3441+17045C>G (n.3441+17045C>G) c.948-142G>C (n.948-142G>C) c.991G>C (p.Gly331Arg) c.276+17045C>G (n.276+17045C>G) c.*220+5499G>C (n.*220+5499G>C) c.115G>C (p.Gly39Arg) c.142G>C (p.Gly48Arg) c.997G>C (p.Gly333Arg) c.811G>C (p.Gly271Arg) c.730G>C (p.Gly244Arg) c.436G>C (p.Gly146Arg) c.817G>C (p.Gly273Arg) | |
2 | g.48688725C>T | CA346749848 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1072G>A (p.Gly358Ser) c.948-586G>A (n.948-586G>A) c.3441+17045C>T (n.3441+17045C>T) c.948-142G>A (n.948-142G>A) c.991G>A (p.Gly331Ser) c.276+17045C>T (n.276+17045C>T) c.*220+5499G>A (n.*220+5499G>A) c.115G>A (p.Gly39Ser) c.142G>A (p.Gly48Ser) c.997G>A (p.Gly333Ser) c.811G>A (p.Gly271Ser) c.730G>A (p.Gly244Ser) c.436G>A (p.Gly146Ser) c.817G>A (p.Gly273Ser) | |
2 | g.48688726C>A | CA346749850 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1071G>T (p.Met357Ile) c.948-587G>T (n.948-587G>T) c.3441+17046C>A (n.3441+17046C>A) c.948-143G>T (n.948-143G>T) c.990G>T (p.Met330Ile) c.276+17046C>A (n.276+17046C>A) c.*220+5498G>T (n.*220+5498G>T) c.114G>T (p.Met38Ile) c.141G>T (p.Met47Ile) c.996G>T (p.Met332Ile) c.810G>T (p.Met270Ile) c.729G>T (p.Met243Ile) c.435G>T (p.Met145Ile) c.816G>T (p.Met272Ile) | |
2 | g.48688726C= | CA1248601247 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1071G= (p.Met357=) c.948-587G= (n.948-587G=) c.3441+17046C= (n.3441+17046C=) c.948-143G= (n.948-143G=) c.990G= (p.Met330=) c.276+17046C= (n.276+17046C=) c.*220+5498G= (n.*220+5498G=) c.114G= (p.Met38=) c.141G= (p.Met47=) c.996G= (p.Met332=) c.810G= (p.Met270=) c.729G= (p.Met243=) c.435G= (p.Met145=) c.816G= (p.Met272=) | |
2 | g.48688726C>G | CA346749853 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1071G>C (p.Met357Ile) c.948-587G>C (n.948-587G>C) c.3441+17046C>G (n.3441+17046C>G) c.948-143G>C (n.948-143G>C) c.990G>C (p.Met330Ile) c.276+17046C>G (n.276+17046C>G) c.*220+5498G>C (n.*220+5498G>C) c.114G>C (p.Met38Ile) c.141G>C (p.Met47Ile) c.996G>C (p.Met332Ile) c.810G>C (p.Met270Ile) c.729G>C (p.Met243Ile) c.435G>C (p.Met145Ile) c.816G>C (p.Met272Ile) | |
2 | g.48688726C>T | CA1653085 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1071G>A (p.Met357Ile) c.948-587G>A (n.948-587G>A) c.3441+17046C>T (n.3441+17046C>T) c.948-143G>A (n.948-143G>A) c.990G>A (p.Met330Ile) c.276+17046C>T (n.276+17046C>T) c.*220+5498G>A (n.*220+5498G>A) c.114G>A (p.Met38Ile) c.141G>A (p.Met47Ile) c.996G>A (p.Met332Ile) c.810G>A (p.Met270Ile) c.729G>A (p.Met243Ile) c.435G>A (p.Met145Ile) c.816G>A (p.Met272Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688727A>C | CA346749855 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1070T>G (p.Met357Arg) c.948-588T>G (n.948-588T>G) c.3441+17047A>C (n.3441+17047A>C) c.948-144T>G (n.948-144T>G) c.989T>G (p.Met330Arg) c.276+17047A>C (n.276+17047A>C) c.*220+5497T>G (n.*220+5497T>G) c.113T>G (p.Met38Arg) c.140T>G (p.Met47Arg) c.995T>G (p.Met332Arg) c.809T>G (p.Met270Arg) c.728T>G (p.Met243Arg) c.434T>G (p.Met145Arg) c.815T>G (p.Met272Arg) | |
2 | g.48688727A>G | CA346749856 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1070T>C (p.Met357Thr) c.948-588T>C (n.948-588T>C) c.3441+17047A>G (n.3441+17047A>G) c.948-144T>C (n.948-144T>C) c.989T>C (p.Met330Thr) c.276+17047A>G (n.276+17047A>G) c.*220+5497T>C (n.*220+5497T>C) c.113T>C (p.Met38Thr) c.140T>C (p.Met47Thr) c.995T>C (p.Met332Thr) c.809T>C (p.Met270Thr) c.728T>C (p.Met243Thr) c.434T>C (p.Met145Thr) c.815T>C (p.Met272Thr) | |
2 | g.48688727A>T | CA346749859 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1070T>A (p.Met357Lys) c.948-588T>A (n.948-588T>A) c.3441+17047A>T (n.3441+17047A>T) c.948-144T>A (n.948-144T>A) c.989T>A (p.Met330Lys) c.276+17047A>T (n.276+17047A>T) c.*220+5497T>A (n.*220+5497T>A) c.113T>A (p.Met38Lys) c.140T>A (p.Met47Lys) c.995T>A (p.Met332Lys) c.809T>A (p.Met270Lys) c.728T>A (p.Met243Lys) c.434T>A (p.Met145Lys) c.815T>A (p.Met272Lys) | |
2 | g.48688728T>A | CA346749861 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1069A>T (p.Met357Leu) c.948-589A>T (n.948-589A>T) c.3441+17048T>A (n.3441+17048T>A) c.948-145A>T (n.948-145A>T) c.988A>T (p.Met330Leu) c.276+17048T>A (n.276+17048T>A) c.*220+5496A>T (n.*220+5496A>T) c.112A>T (p.Met38Leu) c.139A>T (p.Met47Leu) c.994A>T (p.Met332Leu) c.808A>T (p.Met270Leu) c.727A>T (p.Met243Leu) c.433A>T (p.Met145Leu) c.814A>T (p.Met272Leu) | |
2 | g.48688728T>C | CA346749862 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1069A>G (p.Met357Val) c.948-589A>G (n.948-589A>G) c.3441+17048T>C (n.3441+17048T>C) c.948-145A>G (n.948-145A>G) c.988A>G (p.Met330Val) c.276+17048T>C (n.276+17048T>C) c.*220+5496A>G (n.*220+5496A>G) c.112A>G (p.Met38Val) c.139A>G (p.Met47Val) c.994A>G (p.Met332Val) c.808A>G (p.Met270Val) c.727A>G (p.Met243Val) c.433A>G (p.Met145Val) c.814A>G (p.Met272Val) | |
2 | g.48688728T>G | CA346749860 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1069A>C (p.Met357Leu) c.948-589A>C (n.948-589A>C) c.3441+17048T>G (n.3441+17048T>G) c.948-145A>C (n.948-145A>C) c.988A>C (p.Met330Leu) c.276+17048T>G (n.276+17048T>G) c.*220+5496A>C (n.*220+5496A>C) c.112A>C (p.Met38Leu) c.139A>C (p.Met47Leu) c.994A>C (p.Met332Leu) c.808A>C (p.Met270Leu) c.727A>C (p.Met243Leu) c.433A>C (p.Met145Leu) c.814A>C (p.Met272Leu) | |
2 | g.48688729A>C | CA346749864 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1068T>G (p.Ile356Met) c.948-590T>G (n.948-590T>G) c.3441+17049A>C (n.3441+17049A>C) c.948-146T>G (n.948-146T>G) c.987T>G (p.Ile329Met) c.276+17049A>C (n.276+17049A>C) c.*220+5495T>G (n.*220+5495T>G) c.111T>G (p.Ile37Met) c.138T>G (p.Ile46Met) c.993T>G (p.Ile331Met) c.807T>G (p.Ile269Met) c.726T>G (p.Ile242Met) c.432T>G (p.Ile144Met) c.813T>G (p.Ile271Met) | |
2 | g.48688729A>G | CA426124763 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1068T>C (p.Ile356=) c.948-590T>C (n.948-590T>C) c.3441+17049A>G (n.3441+17049A>G) c.948-146T>C (n.948-146T>C) c.987T>C (p.Ile329=) c.276+17049A>G (n.276+17049A>G) c.*220+5495T>C (n.*220+5495T>C) c.111T>C (p.Ile37=) c.138T>C (p.Ile46=) c.993T>C (p.Ile331=) c.807T>C (p.Ile269=) c.726T>C (p.Ile242=) c.432T>C (p.Ile144=) c.813T>C (p.Ile271=) | |
2 | g.48688729A>T | CA426124764 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1068T>A (p.Ile356=) c.948-590T>A (n.948-590T>A) c.3441+17049A>T (n.3441+17049A>T) c.948-146T>A (n.948-146T>A) c.987T>A (p.Ile329=) c.276+17049A>T (n.276+17049A>T) c.*220+5495T>A (n.*220+5495T>A) c.111T>A (p.Ile37=) c.138T>A (p.Ile46=) c.993T>A (p.Ile331=) c.807T>A (p.Ile269=) c.726T>A (p.Ile242=) c.432T>A (p.Ile144=) c.813T>A (p.Ile271=) | |
2 | g.48688730A>C | CA346749866 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1067T>G (p.Ile356Ser) c.948-591T>G (n.948-591T>G) c.3441+17050A>C (n.3441+17050A>C) c.948-147T>G (n.948-147T>G) c.986T>G (p.Ile329Ser) c.276+17050A>C (n.276+17050A>C) c.*220+5494T>G (n.*220+5494T>G) c.110T>G (p.Ile37Ser) c.137T>G (p.Ile46Ser) c.992T>G (p.Ile331Ser) c.806T>G (p.Ile269Ser) c.725T>G (p.Ile242Ser) c.431T>G (p.Ile144Ser) c.812T>G (p.Ile271Ser) | |
2 | g.48688730A>G | CA346749867 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1067T>C (p.Ile356Thr) c.948-591T>C (n.948-591T>C) c.3441+17050A>G (n.3441+17050A>G) c.948-147T>C (n.948-147T>C) c.986T>C (p.Ile329Thr) c.276+17050A>G (n.276+17050A>G) c.*220+5494T>C (n.*220+5494T>C) c.110T>C (p.Ile37Thr) c.137T>C (p.Ile46Thr) c.992T>C (p.Ile331Thr) c.806T>C (p.Ile269Thr) c.725T>C (p.Ile242Thr) c.431T>C (p.Ile144Thr) c.812T>C (p.Ile271Thr) | |
2 | g.48688730A>T | CA346749868 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1067T>A (p.Ile356Asn) c.948-591T>A (n.948-591T>A) c.3441+17050A>T (n.3441+17050A>T) c.948-147T>A (n.948-147T>A) c.986T>A (p.Ile329Asn) c.276+17050A>T (n.276+17050A>T) c.*220+5494T>A (n.*220+5494T>A) c.110T>A (p.Ile37Asn) c.137T>A (p.Ile46Asn) c.992T>A (p.Ile331Asn) c.806T>A (p.Ile269Asn) c.725T>A (p.Ile242Asn) c.431T>A (p.Ile144Asn) c.812T>A (p.Ile271Asn) | gnomAD v4 |
2 | g.48688731T>A | CA346749874 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1066A>T (p.Ile356Phe) c.948-592A>T (n.948-592A>T) c.3441+17051T>A (n.3441+17051T>A) c.948-148A>T (n.948-148A>T) c.985A>T (p.Ile329Phe) c.276+17051T>A (n.276+17051T>A) c.*220+5493A>T (n.*220+5493A>T) c.109A>T (p.Ile37Phe) c.136A>T (p.Ile46Phe) c.991A>T (p.Ile331Phe) c.805A>T (p.Ile269Phe) c.724A>T (p.Ile242Phe) c.430A>T (p.Ile144Phe) c.811A>T (p.Ile271Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688731T>C | CA346749871 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1066A>G (p.Ile356Val) c.948-592A>G (n.948-592A>G) c.3441+17051T>C (n.3441+17051T>C) c.948-148A>G (n.948-148A>G) c.985A>G (p.Ile329Val) c.276+17051T>C (n.276+17051T>C) c.*220+5493A>G (n.*220+5493A>G) c.109A>G (p.Ile37Val) c.136A>G (p.Ile46Val) c.991A>G (p.Ile331Val) c.805A>G (p.Ile269Val) c.724A>G (p.Ile242Val) c.430A>G (p.Ile144Val) c.811A>G (p.Ile271Val) | dbSNP gnomAD v2 |
2 | g.48688731T>G | CA346749869 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1066A>C (p.Ile356Leu) c.948-592A>C (n.948-592A>C) c.3441+17051T>G (n.3441+17051T>G) c.948-148A>C (n.948-148A>C) c.985A>C (p.Ile329Leu) c.276+17051T>G (n.276+17051T>G) c.*220+5493A>C (n.*220+5493A>C) c.109A>C (p.Ile37Leu) c.136A>C (p.Ile46Leu) c.991A>C (p.Ile331Leu) c.805A>C (p.Ile269Leu) c.724A>C (p.Ile242Leu) c.430A>C (p.Ile144Leu) c.811A>C (p.Ile271Leu) | |
2 | g.48688731T= | CA1248601248 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1066A= (p.Ile356=) c.948-592A= (n.948-592A=) c.3441+17051T= (n.3441+17051T=) c.948-148A= (n.948-148A=) c.985A= (p.Ile329=) c.276+17051T= (n.276+17051T=) c.*220+5493A= (n.*220+5493A=) c.109A= (p.Ile37=) c.136A= (p.Ile46=) c.991A= (p.Ile331=) c.805A= (p.Ile269=) c.724A= (p.Ile242=) c.430A= (p.Ile144=) c.811A= (p.Ile271=) | |
2 | g.48688732A= | CA1248601249 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1065T= (p.Asp355=) c.948-593T= (n.948-593T=) c.3441+17052A= (n.3441+17052A=) c.948-149T= (n.948-149T=) c.984T= (p.Asp328=) c.276+17052A= (n.276+17052A=) c.*220+5492T= (n.*220+5492T=) c.108T= (p.Asp36=) c.135T= (p.Asp45=) c.990T= (p.Asp330=) c.804T= (p.Asp268=) c.723T= (p.Asp241=) c.429T= (p.Asp143=) c.810T= (p.Asp270=) | |
2 | g.48688732A>C | CA346749875 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1065T>G (p.Asp355Glu) c.948-593T>G (n.948-593T>G) c.3441+17052A>C (n.3441+17052A>C) c.948-149T>G (n.948-149T>G) c.984T>G (p.Asp328Glu) c.276+17052A>C (n.276+17052A>C) c.*220+5492T>G (n.*220+5492T>G) c.108T>G (p.Asp36Glu) c.135T>G (p.Asp45Glu) c.990T>G (p.Asp330Glu) c.804T>G (p.Asp268Glu) c.723T>G (p.Asp241Glu) c.429T>G (p.Asp143Glu) c.810T>G (p.Asp270Glu) | dbSNP |
2 | g.48688732A>G | CA1653086 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1065T>C (p.Asp355=) c.948-593T>C (n.948-593T>C) c.3441+17052A>G (n.3441+17052A>G) c.948-149T>C (n.948-149T>C) c.984T>C (p.Asp328=) c.276+17052A>G (n.276+17052A>G) c.*220+5492T>C (n.*220+5492T>C) c.108T>C (p.Asp36=) c.135T>C (p.Asp45=) c.990T>C (p.Asp330=) c.804T>C (p.Asp268=) c.723T>C (p.Asp241=) c.429T>C (p.Asp143=) c.810T>C (p.Asp270=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688732A>T | CA346749877 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1065T>A (p.Asp355Glu) c.948-593T>A (n.948-593T>A) c.3441+17052A>T (n.3441+17052A>T) c.948-149T>A (n.948-149T>A) c.984T>A (p.Asp328Glu) c.276+17052A>T (n.276+17052A>T) c.*220+5492T>A (n.*220+5492T>A) c.108T>A (p.Asp36Glu) c.135T>A (p.Asp45Glu) c.990T>A (p.Asp330Glu) c.804T>A (p.Asp268Glu) c.723T>A (p.Asp241Glu) c.429T>A (p.Asp143Glu) c.810T>A (p.Asp270Glu) | |
2 | g.48688733T>A | CA346749879 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1064A>T (p.Asp355Val) c.948-594A>T (n.948-594A>T) c.3441+17053T>A (n.3441+17053T>A) c.948-150A>T (n.948-150A>T) c.983A>T (p.Asp328Val) c.276+17053T>A (n.276+17053T>A) c.*220+5491A>T (n.*220+5491A>T) c.107A>T (p.Asp36Val) c.134A>T (p.Asp45Val) c.989A>T (p.Asp330Val) c.803A>T (p.Asp268Val) c.722A>T (p.Asp241Val) c.428A>T (p.Asp143Val) c.809A>T (p.Asp270Val) | |
2 | g.48688733T>C | CA346749880 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1064A>G (p.Asp355Gly) c.948-594A>G (n.948-594A>G) c.3441+17053T>C (n.3441+17053T>C) c.948-150A>G (n.948-150A>G) c.983A>G (p.Asp328Gly) c.276+17053T>C (n.276+17053T>C) c.*220+5491A>G (n.*220+5491A>G) c.107A>G (p.Asp36Gly) c.134A>G (p.Asp45Gly) c.989A>G (p.Asp330Gly) c.803A>G (p.Asp268Gly) c.722A>G (p.Asp241Gly) c.428A>G (p.Asp143Gly) c.809A>G (p.Asp270Gly) | |
2 | g.48688733T>G | CA346749883 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1064A>C (p.Asp355Ala) c.948-594A>C (n.948-594A>C) c.3441+17053T>G (n.3441+17053T>G) c.948-150A>C (n.948-150A>C) c.983A>C (p.Asp328Ala) c.276+17053T>G (n.276+17053T>G) c.*220+5491A>C (n.*220+5491A>C) c.107A>C (p.Asp36Ala) c.134A>C (p.Asp45Ala) c.989A>C (p.Asp330Ala) c.803A>C (p.Asp268Ala) c.722A>C (p.Asp241Ala) c.428A>C (p.Asp143Ala) c.809A>C (p.Asp270Ala) | |
2 | g.48688734C>A | CA346749886 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1063G>T (p.Asp355Tyr) c.948-595G>T (n.948-595G>T) c.3441+17054C>A (n.3441+17054C>A) c.948-151G>T (n.948-151G>T) c.982G>T (p.Asp328Tyr) c.276+17054C>A (n.276+17054C>A) c.*220+5490G>T (n.*220+5490G>T) c.106G>T (p.Asp36Tyr) c.133G>T (p.Asp45Tyr) c.988G>T (p.Asp330Tyr) c.802G>T (p.Asp268Tyr) c.721G>T (p.Asp241Tyr) c.427G>T (p.Asp143Tyr) c.808G>T (p.Asp270Tyr) | |
2 | g.48688734C>G | CA346749884 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1063G>C (p.Asp355His) c.948-595G>C (n.948-595G>C) c.3441+17054C>G (n.3441+17054C>G) c.948-151G>C (n.948-151G>C) c.982G>C (p.Asp328His) c.276+17054C>G (n.276+17054C>G) c.*220+5490G>C (n.*220+5490G>C) c.106G>C (p.Asp36His) c.133G>C (p.Asp45His) c.988G>C (p.Asp330His) c.802G>C (p.Asp268His) c.721G>C (p.Asp241His) c.427G>C (p.Asp143His) c.808G>C (p.Asp270His) | |
2 | g.48688734C>T | CA346749885 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1063G>A (p.Asp355Asn) c.948-595G>A (n.948-595G>A) c.3441+17054C>T (n.3441+17054C>T) c.948-151G>A (n.948-151G>A) c.982G>A (p.Asp328Asn) c.276+17054C>T (n.276+17054C>T) c.*220+5490G>A (n.*220+5490G>A) c.106G>A (p.Asp36Asn) c.133G>A (p.Asp45Asn) c.988G>A (p.Asp330Asn) c.802G>A (p.Asp268Asn) c.721G>A (p.Asp241Asn) c.427G>A (p.Asp143Asn) c.808G>A (p.Asp270Asn) | gnomAD v4 COSMIC |
2 | g.48688735T>A | CA346749887 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1062A>T (p.Glu354Asp) c.948-596A>T (n.948-596A>T) c.3441+17055T>A (n.3441+17055T>A) c.948-152A>T (n.948-152A>T) c.981A>T (p.Glu327Asp) c.276+17055T>A (n.276+17055T>A) c.*220+5489A>T (n.*220+5489A>T) c.105A>T (p.Glu35Asp) c.132A>T (p.Glu44Asp) c.987A>T (p.Glu329Asp) c.801A>T (p.Glu267Asp) c.720A>T (p.Glu240Asp) c.426A>T (p.Glu142Asp) c.807A>T (p.Glu269Asp) | |
2 | g.48688735T>C | CA426124770 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1062A>G (p.Glu354=) c.948-596A>G (n.948-596A>G) c.3441+17055T>C (n.3441+17055T>C) c.948-152A>G (n.948-152A>G) c.981A>G (p.Glu327=) c.276+17055T>C (n.276+17055T>C) c.*220+5489A>G (n.*220+5489A>G) c.105A>G (p.Glu35=) c.132A>G (p.Glu44=) c.987A>G (p.Glu329=) c.801A>G (p.Glu267=) c.720A>G (p.Glu240=) c.426A>G (p.Glu142=) c.807A>G (p.Glu269=) | |
2 | g.48688735T>G | CA346749888 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1062A>C (p.Glu354Asp) c.948-596A>C (n.948-596A>C) c.3441+17055T>G (n.3441+17055T>G) c.948-152A>C (n.948-152A>C) c.981A>C (p.Glu327Asp) c.276+17055T>G (n.276+17055T>G) c.*220+5489A>C (n.*220+5489A>C) c.105A>C (p.Glu35Asp) c.132A>C (p.Glu44Asp) c.987A>C (p.Glu329Asp) c.801A>C (p.Glu267Asp) c.720A>C (p.Glu240Asp) c.426A>C (p.Glu142Asp) c.807A>C (p.Glu269Asp) | gnomAD v4 |
2 | g.48688736T>A | CA346749890 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1061A>T (p.Glu354Val) c.948-597A>T (n.948-597A>T) c.3441+17056T>A (n.3441+17056T>A) c.948-153A>T (n.948-153A>T) c.980A>T (p.Glu327Val) c.276+17056T>A (n.276+17056T>A) c.*220+5488A>T (n.*220+5488A>T) c.104A>T (p.Glu35Val) c.131A>T (p.Glu44Val) c.986A>T (p.Glu329Val) c.800A>T (p.Glu267Val) c.719A>T (p.Glu240Val) c.425A>T (p.Glu142Val) c.806A>T (p.Glu269Val) | |
2 | g.48688736T>C | CA346749892 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1061A>G (p.Glu354Gly) c.948-597A>G (n.948-597A>G) c.3441+17056T>C (n.3441+17056T>C) c.948-153A>G (n.948-153A>G) c.980A>G (p.Glu327Gly) c.276+17056T>C (n.276+17056T>C) c.*220+5488A>G (n.*220+5488A>G) c.104A>G (p.Glu35Gly) c.131A>G (p.Glu44Gly) c.986A>G (p.Glu329Gly) c.800A>G (p.Glu267Gly) c.719A>G (p.Glu240Gly) c.425A>G (p.Glu142Gly) c.806A>G (p.Glu269Gly) | |
2 | g.48688736T>G | CA346749893 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1061A>C (p.Glu354Ala) c.948-597A>C (n.948-597A>C) c.3441+17056T>G (n.3441+17056T>G) c.948-153A>C (n.948-153A>C) c.980A>C (p.Glu327Ala) c.276+17056T>G (n.276+17056T>G) c.*220+5488A>C (n.*220+5488A>C) c.104A>C (p.Glu35Ala) c.131A>C (p.Glu44Ala) c.986A>C (p.Glu329Ala) c.800A>C (p.Glu267Ala) c.719A>C (p.Glu240Ala) c.425A>C (p.Glu142Ala) c.806A>C (p.Glu269Ala) | |
2 | g.48688737C>A | CA346749898 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1060G>T (p.Glu354Ter) c.948-598G>T (n.948-598G>T) c.3441+17057C>A (n.3441+17057C>A) c.948-154G>T (n.948-154G>T) c.979G>T (p.Glu327Ter) c.276+17057C>A (n.276+17057C>A) c.*220+5487G>T (n.*220+5487G>T) c.103G>T (p.Glu35Ter) c.130G>T (p.Glu44Ter) c.985G>T (p.Glu329Ter) c.799G>T (p.Glu267Ter) c.718G>T (p.Glu240Ter) c.424G>T (p.Glu142Ter) c.805G>T (p.Glu269Ter) | |
2 | g.48688737C= | CA1248601250 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1060G= (p.Glu354=) c.948-598G= (n.948-598G=) c.3441+17057C= (n.3441+17057C=) c.948-154G= (n.948-154G=) c.979G= (p.Glu327=) c.276+17057C= (n.276+17057C=) c.*220+5487G= (n.*220+5487G=) c.103G= (p.Glu35=) c.130G= (p.Glu44=) c.985G= (p.Glu329=) c.799G= (p.Glu267=) c.718G= (p.Glu240=) c.424G= (p.Glu142=) c.805G= (p.Glu269=) | |
2 | g.48688737C>G | CA346749899 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1060G>C (p.Glu354Gln) c.948-598G>C (n.948-598G>C) c.3441+17057C>G (n.3441+17057C>G) c.948-154G>C (n.948-154G>C) c.979G>C (p.Glu327Gln) c.276+17057C>G (n.276+17057C>G) c.*220+5487G>C (n.*220+5487G>C) c.103G>C (p.Glu35Gln) c.130G>C (p.Glu44Gln) c.985G>C (p.Glu329Gln) c.799G>C (p.Glu267Gln) c.718G>C (p.Glu240Gln) c.424G>C (p.Glu142Gln) c.805G>C (p.Glu269Gln) | |
2 | g.48688737C>T | CA123927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1060G>A (p.Glu354Lys) c.948-598G>A (n.948-598G>A) c.3441+17057C>T (n.3441+17057C>T) c.948-154G>A (n.948-154G>A) c.979G>A (p.Glu327Lys) c.276+17057C>T (n.276+17057C>T) c.*220+5487G>A (n.*220+5487G>A) c.103G>A (p.Glu35Lys) c.130G>A (p.Glu44Lys) c.985G>A (p.Glu329Lys) c.799G>A (p.Glu267Lys) c.718G>A (p.Glu240Lys) c.424G>A (p.Glu142Lys) c.805G>A (p.Glu269Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.48688738A>C | CA346749902 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1059T>G (p.Cys353Trp) c.948-599T>G (n.948-599T>G) c.3441+17058A>C (n.3441+17058A>C) c.948-155T>G (n.948-155T>G) c.978T>G (p.Cys326Trp) c.276+17058A>C (n.276+17058A>C) c.*220+5486T>G (n.*220+5486T>G) c.102T>G (p.Cys34Trp) c.129T>G (p.Cys43Trp) c.984T>G (p.Cys328Trp) c.798T>G (p.Cys266Trp) c.717T>G (p.Cys239Trp) c.423T>G (p.Cys141Trp) c.804T>G (p.Cys268Trp) | |
2 | g.48688738A>G | CA426124774 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1059T>C (p.Cys353=) c.948-599T>C (n.948-599T>C) c.3441+17058A>G (n.3441+17058A>G) c.948-155T>C (n.948-155T>C) c.978T>C (p.Cys326=) c.276+17058A>G (n.276+17058A>G) c.*220+5486T>C (n.*220+5486T>C) c.102T>C (p.Cys34=) c.129T>C (p.Cys43=) c.984T>C (p.Cys328=) c.798T>C (p.Cys266=) c.717T>C (p.Cys239=) c.423T>C (p.Cys141=) c.804T>C (p.Cys268=) | gnomAD v4 |
2 | g.48688738A>T | CA346749900 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1059T>A (p.Cys353Ter) c.948-599T>A (n.948-599T>A) c.3441+17058A>T (n.3441+17058A>T) c.948-155T>A (n.948-155T>A) c.978T>A (p.Cys326Ter) c.276+17058A>T (n.276+17058A>T) c.*220+5486T>A (n.*220+5486T>A) c.102T>A (p.Cys34Ter) c.129T>A (p.Cys43Ter) c.984T>A (p.Cys328Ter) c.798T>A (p.Cys266Ter) c.717T>A (p.Cys239Ter) c.423T>A (p.Cys141Ter) c.804T>A (p.Cys268Ter) | |
2 | g.48688739C>A | CA346749904 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1058G>T (p.Cys353Phe) c.948-600G>T (n.948-600G>T) c.3441+17059C>A (n.3441+17059C>A) c.948-156G>T (n.948-156G>T) c.977G>T (p.Cys326Phe) c.276+17059C>A (n.276+17059C>A) c.*220+5485G>T (n.*220+5485G>T) c.101G>T (p.Cys34Phe) c.128G>T (p.Cys43Phe) c.983G>T (p.Cys328Phe) c.797G>T (p.Cys266Phe) c.716G>T (p.Cys239Phe) c.422G>T (p.Cys141Phe) c.803G>T (p.Cys268Phe) | |
2 | g.48688739C>G | CA346749906 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1058G>C (p.Cys353Ser) c.948-600G>C (n.948-600G>C) c.3441+17059C>G (n.3441+17059C>G) c.948-156G>C (n.948-156G>C) c.977G>C (p.Cys326Ser) c.276+17059C>G (n.276+17059C>G) c.*220+5485G>C (n.*220+5485G>C) c.101G>C (p.Cys34Ser) c.128G>C (p.Cys43Ser) c.983G>C (p.Cys328Ser) c.797G>C (p.Cys266Ser) c.716G>C (p.Cys239Ser) c.422G>C (p.Cys141Ser) c.803G>C (p.Cys268Ser) | gnomAD v4 |
2 | g.48688739C>T | CA346749909 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1058G>A (p.Cys353Tyr) c.948-600G>A (n.948-600G>A) c.3441+17059C>T (n.3441+17059C>T) c.948-156G>A (n.948-156G>A) c.977G>A (p.Cys326Tyr) c.276+17059C>T (n.276+17059C>T) c.*220+5485G>A (n.*220+5485G>A) c.101G>A (p.Cys34Tyr) c.128G>A (p.Cys43Tyr) c.983G>A (p.Cys328Tyr) c.797G>A (p.Cys266Tyr) c.716G>A (p.Cys239Tyr) c.422G>A (p.Cys141Tyr) c.803G>A (p.Cys268Tyr) | |
2 | g.48688740A= | CA1248601251 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1057T= (p.Cys353=) c.948-601T= (n.948-601T=) c.3441+17060A= (n.3441+17060A=) c.948-157T= (n.948-157T=) c.976T= (p.Cys326=) c.276+17060A= (n.276+17060A=) c.*220+5484T= (n.*220+5484T=) c.100T= (p.Cys34=) c.127T= (p.Cys43=) c.982T= (p.Cys328=) c.796T= (p.Cys266=) c.715T= (p.Cys239=) c.421T= (p.Cys141=) c.802T= (p.Cys268=) | |
2 | g.48688740A>C | CA346749910 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1057T>G (p.Cys353Gly) c.948-601T>G (n.948-601T>G) c.3441+17060A>C (n.3441+17060A>C) c.948-157T>G (n.948-157T>G) c.976T>G (p.Cys326Gly) c.276+17060A>C (n.276+17060A>C) c.*220+5484T>G (n.*220+5484T>G) c.100T>G (p.Cys34Gly) c.127T>G (p.Cys43Gly) c.982T>G (p.Cys328Gly) c.796T>G (p.Cys266Gly) c.715T>G (p.Cys239Gly) c.421T>G (p.Cys141Gly) c.802T>G (p.Cys268Gly) | |
2 | g.48688740A>G | CA346749914 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1057T>C (p.Cys353Arg) c.948-601T>C (n.948-601T>C) c.3441+17060A>G (n.3441+17060A>G) c.948-157T>C (n.948-157T>C) c.976T>C (p.Cys326Arg) c.276+17060A>G (n.276+17060A>G) c.*220+5484T>C (n.*220+5484T>C) c.100T>C (p.Cys34Arg) c.127T>C (p.Cys43Arg) c.982T>C (p.Cys328Arg) c.796T>C (p.Cys266Arg) c.715T>C (p.Cys239Arg) c.421T>C (p.Cys141Arg) c.802T>C (p.Cys268Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688740A>T | CA346749917 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1057T>A (p.Cys353Ser) c.948-601T>A (n.948-601T>A) c.3441+17060A>T (n.3441+17060A>T) c.948-157T>A (n.948-157T>A) c.976T>A (p.Cys326Ser) c.276+17060A>T (n.276+17060A>T) c.*220+5484T>A (n.*220+5484T>A) c.100T>A (p.Cys34Ser) c.127T>A (p.Cys43Ser) c.982T>A (p.Cys328Ser) c.796T>A (p.Cys266Ser) c.715T>A (p.Cys239Ser) c.421T>A (p.Cys141Ser) c.802T>A (p.Cys268Ser) | |
2 | g.48688741G>A | CA426124780 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1056C>T (p.Pro352=) c.948-602C>T (n.948-602C>T) c.3441+17061G>A (n.3441+17061G>A) c.948-158C>T (n.948-158C>T) c.975C>T (p.Pro325=) c.276+17061G>A (n.276+17061G>A) c.*220+5483C>T (n.*220+5483C>T) c.99C>T (p.Pro33=) c.126C>T (p.Pro42=) c.981C>T (p.Pro327=) c.795C>T (p.Pro265=) c.714C>T (p.Pro238=) c.420C>T (p.Pro140=) c.801C>T (p.Pro267=) | |
2 | g.48688741G>C | CA426124779 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1056C>G (p.Pro352=) c.948-602C>G (n.948-602C>G) c.3441+17061G>C (n.3441+17061G>C) c.948-158C>G (n.948-158C>G) c.975C>G (p.Pro325=) c.276+17061G>C (n.276+17061G>C) c.*220+5483C>G (n.*220+5483C>G) c.99C>G (p.Pro33=) c.126C>G (p.Pro42=) c.981C>G (p.Pro327=) c.795C>G (p.Pro265=) c.714C>G (p.Pro238=) c.420C>G (p.Pro140=) c.801C>G (p.Pro267=) | |
2 | g.48688741G>T | CA426124778 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1056C>A (p.Pro352=) c.948-602C>A (n.948-602C>A) c.3441+17061G>T (n.3441+17061G>T) c.948-158C>A (n.948-158C>A) c.975C>A (p.Pro325=) c.276+17061G>T (n.276+17061G>T) c.*220+5483C>A (n.*220+5483C>A) c.99C>A (p.Pro33=) c.126C>A (p.Pro42=) c.981C>A (p.Pro327=) c.795C>A (p.Pro265=) c.714C>A (p.Pro238=) c.420C>A (p.Pro140=) c.801C>A (p.Pro267=) | |
2 | g.48688742G>A | CA346749919 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1055C>T (p.Pro352Leu) c.948-603C>T (n.948-603C>T) c.3441+17062G>A (n.3441+17062G>A) c.948-159C>T (n.948-159C>T) c.974C>T (p.Pro325Leu) c.276+17062G>A (n.276+17062G>A) c.*220+5482C>T (n.*220+5482C>T) c.98C>T (p.Pro33Leu) c.125C>T (p.Pro42Leu) c.980C>T (p.Pro327Leu) c.794C>T (p.Pro265Leu) c.713C>T (p.Pro238Leu) c.419C>T (p.Pro140Leu) c.800C>T (p.Pro267Leu) | |
2 | g.48688742G>C | CA346749926 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1055C>G (p.Pro352Arg) c.948-603C>G (n.948-603C>G) c.3441+17062G>C (n.3441+17062G>C) c.948-159C>G (n.948-159C>G) c.974C>G (p.Pro325Arg) c.276+17062G>C (n.276+17062G>C) c.*220+5482C>G (n.*220+5482C>G) c.98C>G (p.Pro33Arg) c.125C>G (p.Pro42Arg) c.980C>G (p.Pro327Arg) c.794C>G (p.Pro265Arg) c.713C>G (p.Pro238Arg) c.419C>G (p.Pro140Arg) c.800C>G (p.Pro267Arg) | |
2 | g.48688742G>T | CA346749923 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1055C>A (p.Pro352His) c.948-603C>A (n.948-603C>A) c.3441+17062G>T (n.3441+17062G>T) c.948-159C>A (n.948-159C>A) c.974C>A (p.Pro325His) c.276+17062G>T (n.276+17062G>T) c.*220+5482C>A (n.*220+5482C>A) c.98C>A (p.Pro33His) c.125C>A (p.Pro42His) c.980C>A (p.Pro327His) c.794C>A (p.Pro265His) c.713C>A (p.Pro238His) c.419C>A (p.Pro140His) c.800C>A (p.Pro267His) | |
2 | g.48688743G>A | CA46753340 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1054C>T (p.Pro352Ser) c.948-604C>T (n.948-604C>T) c.3441+17063G>A (n.3441+17063G>A) c.948-160C>T (n.948-160C>T) c.973C>T (p.Pro325Ser) c.276+17063G>A (n.276+17063G>A) c.*220+5481C>T (n.*220+5481C>T) c.97C>T (p.Pro33Ser) c.124C>T (p.Pro42Ser) c.979C>T (p.Pro327Ser) c.793C>T (p.Pro265Ser) c.712C>T (p.Pro238Ser) c.418C>T (p.Pro140Ser) c.799C>T (p.Pro267Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688743G>C | CA346749927 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1054C>G (p.Pro352Ala) c.948-604C>G (n.948-604C>G) c.3441+17063G>C (n.3441+17063G>C) c.948-160C>G (n.948-160C>G) c.973C>G (p.Pro325Ala) c.276+17063G>C (n.276+17063G>C) c.*220+5481C>G (n.*220+5481C>G) c.97C>G (p.Pro33Ala) c.124C>G (p.Pro42Ala) c.979C>G (p.Pro327Ala) c.793C>G (p.Pro265Ala) c.712C>G (p.Pro238Ala) c.418C>G (p.Pro140Ala) c.799C>G (p.Pro267Ala) | |
2 | g.48688743G= | CA1248601252 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1054C= (p.Pro352=) c.948-604C= (n.948-604C=) c.3441+17063G= (n.3441+17063G=) c.948-160C= (n.948-160C=) c.973C= (p.Pro325=) c.276+17063G= (n.276+17063G=) c.*220+5481C= (n.*220+5481C=) c.97C= (p.Pro33=) c.124C= (p.Pro42=) c.979C= (p.Pro327=) c.793C= (p.Pro265=) c.712C= (p.Pro238=) c.418C= (p.Pro140=) c.799C= (p.Pro267=) | |
2 | g.48688743G>T | CA346749931 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1054C>A (p.Pro352Thr) c.948-604C>A (n.948-604C>A) c.3441+17063G>T (n.3441+17063G>T) c.948-160C>A (n.948-160C>A) c.973C>A (p.Pro325Thr) c.276+17063G>T (n.276+17063G>T) c.*220+5481C>A (n.*220+5481C>A) c.97C>A (p.Pro33Thr) c.124C>A (p.Pro42Thr) c.979C>A (p.Pro327Thr) c.793C>A (p.Pro265Thr) c.712C>A (p.Pro238Thr) c.418C>A (p.Pro140Thr) c.799C>A (p.Pro267Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688744A= | CA1248601253 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1053T= (p.Asn351=) c.948-605T= (n.948-605T=) c.3441+17064A= (n.3441+17064A=) c.948-161T= (n.948-161T=) c.972T= (p.Asn324=) c.276+17064A= (n.276+17064A=) c.*220+5480T= (n.*220+5480T=) c.96T= (p.Asn32=) c.123T= (p.Asn41=) c.978T= (p.Asn326=) c.792T= (p.Asn264=) c.711T= (p.Asn237=) c.417T= (p.Asn139=) c.798T= (p.Asn266=) | |
2 | g.48688744A>C | CA346749933 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1053T>G (p.Asn351Lys) c.948-605T>G (n.948-605T>G) c.3441+17064A>C (n.3441+17064A>C) c.948-161T>G (n.948-161T>G) c.972T>G (p.Asn324Lys) c.276+17064A>C (n.276+17064A>C) c.*220+5480T>G (n.*220+5480T>G) c.96T>G (p.Asn32Lys) c.123T>G (p.Asn41Lys) c.978T>G (p.Asn326Lys) c.792T>G (p.Asn264Lys) c.711T>G (p.Asn237Lys) c.417T>G (p.Asn139Lys) c.798T>G (p.Asn266Lys) | |
2 | g.48688744A>G | CA426124782 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1053T>C (p.Asn351=) c.948-605T>C (n.948-605T>C) c.3441+17064A>G (n.3441+17064A>G) c.948-161T>C (n.948-161T>C) c.972T>C (p.Asn324=) c.276+17064A>G (n.276+17064A>G) c.*220+5480T>C (n.*220+5480T>C) c.96T>C (p.Asn32=) c.123T>C (p.Asn41=) c.978T>C (p.Asn326=) c.792T>C (p.Asn264=) c.711T>C (p.Asn237=) c.417T>C (p.Asn139=) c.798T>C (p.Asn266=) | |
2 | g.48688744A>T | CA1653087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1053T>A (p.Asn351Lys) c.948-605T>A (n.948-605T>A) c.3441+17064A>T (n.3441+17064A>T) c.948-161T>A (n.948-161T>A) c.972T>A (p.Asn324Lys) c.276+17064A>T (n.276+17064A>T) c.*220+5480T>A (n.*220+5480T>A) c.96T>A (p.Asn32Lys) c.123T>A (p.Asn41Lys) c.978T>A (p.Asn326Lys) c.792T>A (p.Asn264Lys) c.711T>A (p.Asn237Lys) c.417T>A (p.Asn139Lys) c.798T>A (p.Asn266Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688745T>A | CA346749938 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1052A>T (p.Asn351Ile) c.948-606A>T (n.948-606A>T) c.3441+17065T>A (n.3441+17065T>A) c.948-162A>T (n.948-162A>T) c.971A>T (p.Asn324Ile) c.276+17065T>A (n.276+17065T>A) c.*220+5479A>T (n.*220+5479A>T) c.95A>T (p.Asn32Ile) c.122A>T (p.Asn41Ile) c.977A>T (p.Asn326Ile) c.791A>T (p.Asn264Ile) c.710A>T (p.Asn237Ile) c.416A>T (p.Asn139Ile) c.797A>T (p.Asn266Ile) | |
2 | g.48688745T>C | CA346749939 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1052A>G (p.Asn351Ser) c.948-606A>G (n.948-606A>G) c.3441+17065T>C (n.3441+17065T>C) c.948-162A>G (n.948-162A>G) c.971A>G (p.Asn324Ser) c.276+17065T>C (n.276+17065T>C) c.*220+5479A>G (n.*220+5479A>G) c.95A>G (p.Asn32Ser) c.122A>G (p.Asn41Ser) c.977A>G (p.Asn326Ser) c.791A>G (p.Asn264Ser) c.710A>G (p.Asn237Ser) c.416A>G (p.Asn139Ser) c.797A>G (p.Asn266Ser) | |
2 | g.48688745T>G | CA1653088 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1052A>C (p.Asn351Thr) c.948-606A>C (n.948-606A>C) c.3441+17065T>G (n.3441+17065T>G) c.948-162A>C (n.948-162A>C) c.971A>C (p.Asn324Thr) c.276+17065T>G (n.276+17065T>G) c.*220+5479A>C (n.*220+5479A>C) c.95A>C (p.Asn32Thr) c.122A>C (p.Asn41Thr) c.977A>C (p.Asn326Thr) c.791A>C (p.Asn264Thr) c.710A>C (p.Asn237Thr) c.416A>C (p.Asn139Thr) c.797A>C (p.Asn266Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688745T= | CA1248601254 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1052A= (p.Asn351=) c.948-606A= (n.948-606A=) c.3441+17065T= (n.3441+17065T=) c.948-162A= (n.948-162A=) c.971A= (p.Asn324=) c.276+17065T= (n.276+17065T=) c.*220+5479A= (n.*220+5479A=) c.95A= (p.Asn32=) c.122A= (p.Asn41=) c.977A= (p.Asn326=) c.791A= (p.Asn264=) c.710A= (p.Asn237=) c.416A= (p.Asn139=) c.797A= (p.Asn266=) | |
2 | g.48688746T>A | CA346749943 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1051A>T (p.Asn351Tyr) c.948-607A>T (n.948-607A>T) c.3441+17066T>A (n.3441+17066T>A) c.948-163A>T (n.948-163A>T) c.970A>T (p.Asn324Tyr) c.276+17066T>A (n.276+17066T>A) c.*220+5478A>T (n.*220+5478A>T) c.94A>T (p.Asn32Tyr) c.121A>T (p.Asn41Tyr) c.976A>T (p.Asn326Tyr) c.790A>T (p.Asn264Tyr) c.709A>T (p.Asn237Tyr) c.415A>T (p.Asn139Tyr) c.796A>T (p.Asn266Tyr) | |
2 | g.48688746T>C | CA346749944 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1051A>G (p.Asn351Asp) c.948-607A>G (n.948-607A>G) c.3441+17066T>C (n.3441+17066T>C) c.948-163A>G (n.948-163A>G) c.970A>G (p.Asn324Asp) c.276+17066T>C (n.276+17066T>C) c.*220+5478A>G (n.*220+5478A>G) c.94A>G (p.Asn32Asp) c.121A>G (p.Asn41Asp) c.976A>G (p.Asn326Asp) c.790A>G (p.Asn264Asp) c.709A>G (p.Asn237Asp) c.415A>G (p.Asn139Asp) c.796A>G (p.Asn266Asp) | |
2 | g.48688746T>G | CA346749945 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1051A>C (p.Asn351His) c.948-607A>C (n.948-607A>C) c.3441+17066T>G (n.3441+17066T>G) c.948-163A>C (n.948-163A>C) c.970A>C (p.Asn324His) c.276+17066T>G (n.276+17066T>G) c.*220+5478A>C (n.*220+5478A>C) c.94A>C (p.Asn32His) c.121A>C (p.Asn41His) c.976A>C (p.Asn326His) c.790A>C (p.Asn264His) c.709A>C (p.Asn237His) c.415A>C (p.Asn139His) c.796A>C (p.Asn266His) | |
2 | g.48688747A>C | CA346749948 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050T>G (p.Phe350Leu) c.948-608T>G (n.948-608T>G) c.3441+17067A>C (n.3441+17067A>C) c.948-164T>G (n.948-164T>G) c.969T>G (p.Phe323Leu) c.276+17067A>C (n.276+17067A>C) c.*220+5477T>G (n.*220+5477T>G) c.93T>G (p.Phe31Leu) c.120T>G (p.Phe40Leu) c.975T>G (p.Phe325Leu) c.789T>G (p.Phe263Leu) c.708T>G (p.Phe236Leu) c.414T>G (p.Phe138Leu) c.795T>G (p.Phe265Leu) | |
2 | g.48688747A>G | CA426124783 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050T>C (p.Phe350=) c.948-608T>C (n.948-608T>C) c.3441+17067A>G (n.3441+17067A>G) c.948-164T>C (n.948-164T>C) c.969T>C (p.Phe323=) c.276+17067A>G (n.276+17067A>G) c.*220+5477T>C (n.*220+5477T>C) c.93T>C (p.Phe31=) c.120T>C (p.Phe40=) c.975T>C (p.Phe325=) c.789T>C (p.Phe263=) c.708T>C (p.Phe236=) c.414T>C (p.Phe138=) c.795T>C (p.Phe265=) | |
2 | g.48688747A>T | CA346749946 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050T>A (p.Phe350Leu) c.948-608T>A (n.948-608T>A) c.3441+17067A>T (n.3441+17067A>T) c.948-164T>A (n.948-164T>A) c.969T>A (p.Phe323Leu) c.276+17067A>T (n.276+17067A>T) c.*220+5477T>A (n.*220+5477T>A) c.93T>A (p.Phe31Leu) c.120T>A (p.Phe40Leu) c.975T>A (p.Phe325Leu) c.789T>A (p.Phe263Leu) c.708T>A (p.Phe236Leu) c.414T>A (p.Phe138Leu) c.795T>A (p.Phe265Leu) | |
2 | g.48688750del | CA2658992089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1050del (p.Phe350LeufsTer16) c.948-608del (n.948-608del) c.3441+17070del (n.3441+17070del) c.948-164del (n.948-164del) c.969del (p.Phe323LeufsTer16) c.276+17070del (n.276+17070del) c.*220+5477del (n.*220+5477del) c.93del (p.Phe31LeufsTer16) c.120del (p.Phe40LeufsTer16) c.975del (p.Phe325LeufsTer16) c.789del (p.Phe263LeufsTer16) c.708del (p.Phe236LeufsTer16) c.414del (p.Phe138LeufsTer16) c.795del (p.Phe265LeufsTer16) | gnomAD v4 |
2 | g.48688748A>C | CA346749952 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1049T>G (p.Phe350Cys) c.948-609T>G (n.948-609T>G) c.3441+17068A>C (n.3441+17068A>C) c.948-165T>G (n.948-165T>G) c.968T>G (p.Phe323Cys) c.276+17068A>C (n.276+17068A>C) c.*220+5476T>G (n.*220+5476T>G) c.92T>G (p.Phe31Cys) c.119T>G (p.Phe40Cys) c.974T>G (p.Phe325Cys) c.788T>G (p.Phe263Cys) c.707T>G (p.Phe236Cys) c.413T>G (p.Phe138Cys) c.794T>G (p.Phe265Cys) | |
2 | g.48688748A>G | CA346749963 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1049T>C (p.Phe350Ser) c.948-609T>C (n.948-609T>C) c.3441+17068A>G (n.3441+17068A>G) c.948-165T>C (n.948-165T>C) c.968T>C (p.Phe323Ser) c.276+17068A>G (n.276+17068A>G) c.*220+5476T>C (n.*220+5476T>C) c.92T>C (p.Phe31Ser) c.119T>C (p.Phe40Ser) c.974T>C (p.Phe325Ser) c.788T>C (p.Phe263Ser) c.707T>C (p.Phe236Ser) c.413T>C (p.Phe138Ser) c.794T>C (p.Phe265Ser) | |
2 | g.48688748A>T | CA346749970 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1049T>A (p.Phe350Tyr) c.948-609T>A (n.948-609T>A) c.3441+17068A>T (n.3441+17068A>T) c.948-165T>A (n.948-165T>A) c.968T>A (p.Phe323Tyr) c.276+17068A>T (n.276+17068A>T) c.*220+5476T>A (n.*220+5476T>A) c.92T>A (p.Phe31Tyr) c.119T>A (p.Phe40Tyr) c.974T>A (p.Phe325Tyr) c.788T>A (p.Phe263Tyr) c.707T>A (p.Phe236Tyr) c.413T>A (p.Phe138Tyr) c.794T>A (p.Phe265Tyr) | |
2 | g.48688749A>C | CA346749972 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1048T>G (p.Phe350Val) c.948-610T>G (n.948-610T>G) c.3441+17069A>C (n.3441+17069A>C) c.948-166T>G (n.948-166T>G) c.967T>G (p.Phe323Val) c.276+17069A>C (n.276+17069A>C) c.*220+5475T>G (n.*220+5475T>G) c.91T>G (p.Phe31Val) c.118T>G (p.Phe40Val) c.973T>G (p.Phe325Val) c.787T>G (p.Phe263Val) c.706T>G (p.Phe236Val) c.412T>G (p.Phe138Val) c.793T>G (p.Phe265Val) | |
2 | g.48688749A>G | CA346749975 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1048T>C (p.Phe350Leu) c.948-610T>C (n.948-610T>C) c.3441+17069A>G (n.3441+17069A>G) c.948-166T>C (n.948-166T>C) c.967T>C (p.Phe323Leu) c.276+17069A>G (n.276+17069A>G) c.*220+5475T>C (n.*220+5475T>C) c.91T>C (p.Phe31Leu) c.118T>C (p.Phe40Leu) c.973T>C (p.Phe325Leu) c.787T>C (p.Phe263Leu) c.706T>C (p.Phe236Leu) c.412T>C (p.Phe138Leu) c.793T>C (p.Phe265Leu) | |
2 | g.48688749A>T | CA346749981 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1048T>A (p.Phe350Ile) c.948-610T>A (n.948-610T>A) c.3441+17069A>T (n.3441+17069A>T) c.948-166T>A (n.948-166T>A) c.967T>A (p.Phe323Ile) c.276+17069A>T (n.276+17069A>T) c.*220+5475T>A (n.*220+5475T>A) c.91T>A (p.Phe31Ile) c.118T>A (p.Phe40Ile) c.973T>A (p.Phe325Ile) c.787T>A (p.Phe263Ile) c.706T>A (p.Phe236Ile) c.412T>A (p.Phe138Ile) c.793T>A (p.Phe265Ile) | |
2 | g.48688750A= | CA1248601255 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T= (p.Ala349=) c.948-611T= (n.948-611T=) c.3441+17070A= (n.3441+17070A=) c.948-167T= (n.948-167T=) c.966T= (p.Ala322=) c.276+17070A= (n.276+17070A=) c.*220+5474T= (n.*220+5474T=) c.90T= (p.Ala30=) c.117T= (p.Ala39=) c.972T= (p.Ala324=) c.786T= (p.Ala262=) c.705T= (p.Ala235=) c.411T= (p.Ala137=) c.792T= (p.Ala264=) | |
2 | g.48688750A>C | CA426124784 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T>G (p.Ala349=) c.948-611T>G (n.948-611T>G) c.3441+17070A>C (n.3441+17070A>C) c.948-167T>G (n.948-167T>G) c.966T>G (p.Ala322=) c.276+17070A>C (n.276+17070A>C) c.*220+5474T>G (n.*220+5474T>G) c.90T>G (p.Ala30=) c.117T>G (p.Ala39=) c.972T>G (p.Ala324=) c.786T>G (p.Ala262=) c.705T>G (p.Ala235=) c.411T>G (p.Ala137=) c.792T>G (p.Ala264=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688750A>G | CA426124785 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T>C (p.Ala349=) c.948-611T>C (n.948-611T>C) c.3441+17070A>G (n.3441+17070A>G) c.948-167T>C (n.948-167T>C) c.966T>C (p.Ala322=) c.276+17070A>G (n.276+17070A>G) c.*220+5474T>C (n.*220+5474T>C) c.90T>C (p.Ala30=) c.117T>C (p.Ala39=) c.972T>C (p.Ala324=) c.786T>C (p.Ala262=) c.705T>C (p.Ala235=) c.411T>C (p.Ala137=) c.792T>C (p.Ala264=) | |
2 | g.48688750A>T | CA426124786 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1047T>A (p.Ala349=) c.948-611T>A (n.948-611T>A) c.3441+17070A>T (n.3441+17070A>T) c.948-167T>A (n.948-167T>A) c.966T>A (p.Ala322=) c.276+17070A>T (n.276+17070A>T) c.*220+5474T>A (n.*220+5474T>A) c.90T>A (p.Ala30=) c.117T>A (p.Ala39=) c.972T>A (p.Ala324=) c.786T>A (p.Ala262=) c.705T>A (p.Ala235=) c.411T>A (p.Ala137=) c.792T>A (p.Ala264=) | |
2 | g.48688751G>A | CA1653089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C>T (p.Ala349Val) c.948-612C>T (n.948-612C>T) c.3441+17071G>A (n.3441+17071G>A) c.948-168C>T (n.948-168C>T) c.965C>T (p.Ala322Val) c.276+17071G>A (n.276+17071G>A) c.*220+5473C>T (n.*220+5473C>T) c.89C>T (p.Ala30Val) c.116C>T (p.Ala39Val) c.971C>T (p.Ala324Val) c.785C>T (p.Ala262Val) c.704C>T (p.Ala235Val) c.410C>T (p.Ala137Val) c.791C>T (p.Ala264Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688751G>C | CA346749991 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C>G (p.Ala349Gly) c.948-612C>G (n.948-612C>G) c.3441+17071G>C (n.3441+17071G>C) c.948-168C>G (n.948-168C>G) c.965C>G (p.Ala322Gly) c.276+17071G>C (n.276+17071G>C) c.*220+5473C>G (n.*220+5473C>G) c.89C>G (p.Ala30Gly) c.116C>G (p.Ala39Gly) c.971C>G (p.Ala324Gly) c.785C>G (p.Ala262Gly) c.704C>G (p.Ala235Gly) c.410C>G (p.Ala137Gly) c.791C>G (p.Ala264Gly) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688751G= | CA1248601256 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C= (p.Ala349=) c.948-612C= (n.948-612C=) c.3441+17071G= (n.3441+17071G=) c.948-168C= (n.948-168C=) c.965C= (p.Ala322=) c.276+17071G= (n.276+17071G=) c.*220+5473C= (n.*220+5473C=) c.89C= (p.Ala30=) c.116C= (p.Ala39=) c.971C= (p.Ala324=) c.785C= (p.Ala262=) c.704C= (p.Ala235=) c.410C= (p.Ala137=) c.791C= (p.Ala264=) | |
2 | g.48688751G>T | CA346749987 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1046C>A (p.Ala349Asp) c.948-612C>A (n.948-612C>A) c.3441+17071G>T (n.3441+17071G>T) c.948-168C>A (n.948-168C>A) c.965C>A (p.Ala322Asp) c.276+17071G>T (n.276+17071G>T) c.*220+5473C>A (n.*220+5473C>A) c.89C>A (p.Ala30Asp) c.116C>A (p.Ala39Asp) c.971C>A (p.Ala324Asp) c.785C>A (p.Ala262Asp) c.704C>A (p.Ala235Asp) c.410C>A (p.Ala137Asp) c.791C>A (p.Ala264Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688752C>A | CA346749995 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G>T (p.Ala349Ser) c.948-613G>T (n.948-613G>T) c.3441+17072C>A (n.3441+17072C>A) c.948-169G>T (n.948-169G>T) c.964G>T (p.Ala322Ser) c.276+17072C>A (n.276+17072C>A) c.*220+5472G>T (n.*220+5472G>T) c.88G>T (p.Ala30Ser) c.115G>T (p.Ala39Ser) c.970G>T (p.Ala324Ser) c.784G>T (p.Ala262Ser) c.703G>T (p.Ala235Ser) c.409G>T (p.Ala137Ser) c.790G>T (p.Ala264Ser) | |
2 | g.48688752C= | CA1248601257 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G= (p.Ala349=) c.948-613G= (n.948-613G=) c.3441+17072C= (n.3441+17072C=) c.948-169G= (n.948-169G=) c.964G= (p.Ala322=) c.276+17072C= (n.276+17072C=) c.*220+5472G= (n.*220+5472G=) c.88G= (p.Ala30=) c.115G= (p.Ala39=) c.970G= (p.Ala324=) c.784G= (p.Ala262=) c.703G= (p.Ala235=) c.409G= (p.Ala137=) c.790G= (p.Ala264=) | |
2 | g.48688752C>G | CA346749996 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G>C (p.Ala349Pro) c.948-613G>C (n.948-613G>C) c.3441+17072C>G (n.3441+17072C>G) c.948-169G>C (n.948-169G>C) c.964G>C (p.Ala322Pro) c.276+17072C>G (n.276+17072C>G) c.*220+5472G>C (n.*220+5472G>C) c.88G>C (p.Ala30Pro) c.115G>C (p.Ala39Pro) c.970G>C (p.Ala324Pro) c.784G>C (p.Ala262Pro) c.703G>C (p.Ala235Pro) c.409G>C (p.Ala137Pro) c.790G>C (p.Ala264Pro) | dbSNP |
2 | g.48688752C>T | CA46753361 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1045G>A (p.Ala349Thr) c.948-613G>A (n.948-613G>A) c.3441+17072C>T (n.3441+17072C>T) c.948-169G>A (n.948-169G>A) c.964G>A (p.Ala322Thr) c.276+17072C>T (n.276+17072C>T) c.*220+5472G>A (n.*220+5472G>A) c.88G>A (p.Ala30Thr) c.115G>A (p.Ala39Thr) c.970G>A (p.Ala324Thr) c.784G>A (p.Ala262Thr) c.703G>A (p.Ala235Thr) c.409G>A (p.Ala137Thr) c.790G>A (p.Ala264Thr) | dbSNP gnomAD v4 |
2 | g.48688753A= | CA1248601258 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T= (p.Asp348=) c.948-614T= (n.948-614T=) c.3441+17073A= (n.3441+17073A=) c.948-170T= (n.948-170T=) c.963T= (p.Asp321=) c.276+17073A= (n.276+17073A=) c.*220+5471T= (n.*220+5471T=) c.87T= (p.Asp29=) c.114T= (p.Asp38=) c.969T= (p.Asp323=) c.783T= (p.Asp261=) c.702T= (p.Asp234=) c.408T= (p.Asp136=) c.789T= (p.Asp263=) | |
2 | g.48688753A>C | CA346749999 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T>G (p.Asp348Glu) c.948-614T>G (n.948-614T>G) c.3441+17073A>C (n.3441+17073A>C) c.948-170T>G (n.948-170T>G) c.963T>G (p.Asp321Glu) c.276+17073A>C (n.276+17073A>C) c.*220+5471T>G (n.*220+5471T>G) c.87T>G (p.Asp29Glu) c.114T>G (p.Asp38Glu) c.969T>G (p.Asp323Glu) c.783T>G (p.Asp261Glu) c.702T>G (p.Asp234Glu) c.408T>G (p.Asp136Glu) c.789T>G (p.Asp263Glu) | |
2 | g.48688753A>G | CA1653090 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T>C (p.Asp348=) c.948-614T>C (n.948-614T>C) c.3441+17073A>G (n.3441+17073A>G) c.948-170T>C (n.948-170T>C) c.963T>C (p.Asp321=) c.276+17073A>G (n.276+17073A>G) c.*220+5471T>C (n.*220+5471T>C) c.87T>C (p.Asp29=) c.114T>C (p.Asp38=) c.969T>C (p.Asp323=) c.783T>C (p.Asp261=) c.702T>C (p.Asp234=) c.408T>C (p.Asp136=) c.789T>C (p.Asp263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688753A>T | CA346750002 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1044T>A (p.Asp348Glu) c.948-614T>A (n.948-614T>A) c.3441+17073A>T (n.3441+17073A>T) c.948-170T>A (n.948-170T>A) c.963T>A (p.Asp321Glu) c.276+17073A>T (n.276+17073A>T) c.*220+5471T>A (n.*220+5471T>A) c.87T>A (p.Asp29Glu) c.114T>A (p.Asp38Glu) c.969T>A (p.Asp323Glu) c.783T>A (p.Asp261Glu) c.702T>A (p.Asp234Glu) c.408T>A (p.Asp136Glu) c.789T>A (p.Asp263Glu) | |
2 | g.48688754T>A | CA346750004 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1043A>T (p.Asp348Val) c.948-615A>T (n.948-615A>T) c.3441+17074T>A (n.3441+17074T>A) c.948-171A>T (n.948-171A>T) c.962A>T (p.Asp321Val) c.276+17074T>A (n.276+17074T>A) c.*220+5470A>T (n.*220+5470A>T) c.86A>T (p.Asp29Val) c.113A>T (p.Asp38Val) c.968A>T (p.Asp323Val) c.782A>T (p.Asp261Val) c.701A>T (p.Asp234Val) c.407A>T (p.Asp136Val) c.788A>T (p.Asp263Val) | |
2 | g.48688754T>C | CA346750009 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1043A>G (p.Asp348Gly) c.948-615A>G (n.948-615A>G) c.3441+17074T>C (n.3441+17074T>C) c.948-171A>G (n.948-171A>G) c.962A>G (p.Asp321Gly) c.276+17074T>C (n.276+17074T>C) c.*220+5470A>G (n.*220+5470A>G) c.86A>G (p.Asp29Gly) c.113A>G (p.Asp38Gly) c.968A>G (p.Asp323Gly) c.782A>G (p.Asp261Gly) c.701A>G (p.Asp234Gly) c.407A>G (p.Asp136Gly) c.788A>G (p.Asp263Gly) | |
2 | g.48688754T>G | CA346750006 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1043A>C (p.Asp348Ala) c.948-615A>C (n.948-615A>C) c.3441+17074T>G (n.3441+17074T>G) c.948-171A>C (n.948-171A>C) c.962A>C (p.Asp321Ala) c.276+17074T>G (n.276+17074T>G) c.*220+5470A>C (n.*220+5470A>C) c.86A>C (p.Asp29Ala) c.113A>C (p.Asp38Ala) c.968A>C (p.Asp323Ala) c.782A>C (p.Asp261Ala) c.701A>C (p.Asp234Ala) c.407A>C (p.Asp136Ala) c.788A>C (p.Asp263Ala) | |
2 | g.48688755C>A | CA346750010 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1042G>T (p.Asp348Tyr) c.948-616G>T (n.948-616G>T) c.3441+17075C>A (n.3441+17075C>A) c.948-172G>T (n.948-172G>T) c.961G>T (p.Asp321Tyr) c.276+17075C>A (n.276+17075C>A) c.*220+5469G>T (n.*220+5469G>T) c.85G>T (p.Asp29Tyr) c.112G>T (p.Asp38Tyr) c.967G>T (p.Asp323Tyr) c.781G>T (p.Asp261Tyr) c.700G>T (p.Asp234Tyr) c.406G>T (p.Asp136Tyr) c.787G>T (p.Asp263Tyr) | |
2 | g.48688755C>G | CA346750011 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1042G>C (p.Asp348His) c.948-616G>C (n.948-616G>C) c.3441+17075C>G (n.3441+17075C>G) c.948-172G>C (n.948-172G>C) c.961G>C (p.Asp321His) c.276+17075C>G (n.276+17075C>G) c.*220+5469G>C (n.*220+5469G>C) c.85G>C (p.Asp29His) c.112G>C (p.Asp38His) c.967G>C (p.Asp323His) c.781G>C (p.Asp261His) c.700G>C (p.Asp234His) c.406G>C (p.Asp136His) c.787G>C (p.Asp263His) | COSMIC |
2 | g.48688755C>T | CA346750012 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1042G>A (p.Asp348Asn) c.948-616G>A (n.948-616G>A) c.3441+17075C>T (n.3441+17075C>T) c.948-172G>A (n.948-172G>A) c.961G>A (p.Asp321Asn) c.276+17075C>T (n.276+17075C>T) c.*220+5469G>A (n.*220+5469G>A) c.85G>A (p.Asp29Asn) c.112G>A (p.Asp38Asn) c.967G>A (p.Asp323Asn) c.781G>A (p.Asp261Asn) c.700G>A (p.Asp234Asn) c.406G>A (p.Asp136Asn) c.787G>A (p.Asp263Asn) | |
2 | g.48688756T>A | CA426124790 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1041A>T (p.Pro347=) c.948-617A>T (n.948-617A>T) c.3441+17076T>A (n.3441+17076T>A) c.948-173A>T (n.948-173A>T) c.960A>T (p.Pro320=) c.276+17076T>A (n.276+17076T>A) c.*220+5468A>T (n.*220+5468A>T) c.84A>T (p.Pro28=) c.111A>T (p.Pro37=) c.966A>T (p.Pro322=) c.780A>T (p.Pro260=) c.699A>T (p.Pro233=) c.405A>T (p.Pro135=) c.786A>T (p.Pro262=) | |
2 | g.48688756T>C | CA426124791 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1041A>G (p.Pro347=) c.948-617A>G (n.948-617A>G) c.3441+17076T>C (n.3441+17076T>C) c.948-173A>G (n.948-173A>G) c.960A>G (p.Pro320=) c.276+17076T>C (n.276+17076T>C) c.*220+5468A>G (n.*220+5468A>G) c.84A>G (p.Pro28=) c.111A>G (p.Pro37=) c.966A>G (p.Pro322=) c.780A>G (p.Pro260=) c.699A>G (p.Pro233=) c.405A>G (p.Pro135=) c.786A>G (p.Pro262=) | gnomAD v4 COSMIC |
2 | g.48688756T>G | CA426124792 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1041A>C (p.Pro347=) c.948-617A>C (n.948-617A>C) c.3441+17076T>G (n.3441+17076T>G) c.948-173A>C (n.948-173A>C) c.960A>C (p.Pro320=) c.276+17076T>G (n.276+17076T>G) c.*220+5468A>C (n.*220+5468A>C) c.84A>C (p.Pro28=) c.111A>C (p.Pro37=) c.966A>C (p.Pro322=) c.780A>C (p.Pro260=) c.699A>C (p.Pro233=) c.405A>C (p.Pro135=) c.786A>C (p.Pro262=) | |
2 | g.48688757G>A | CA346750013 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1040C>T (p.Pro347Leu) c.948-618C>T (n.948-618C>T) c.3441+17077G>A (n.3441+17077G>A) c.948-174C>T (n.948-174C>T) c.959C>T (p.Pro320Leu) c.276+17077G>A (n.276+17077G>A) c.*220+5467C>T (n.*220+5467C>T) c.83C>T (p.Pro28Leu) c.110C>T (p.Pro37Leu) c.965C>T (p.Pro322Leu) c.779C>T (p.Pro260Leu) c.698C>T (p.Pro233Leu) c.404C>T (p.Pro135Leu) c.785C>T (p.Pro262Leu) | |
2 | g.48688757G>C | CA346750014 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1040C>G (p.Pro347Arg) c.948-618C>G (n.948-618C>G) c.3441+17077G>C (n.3441+17077G>C) c.948-174C>G (n.948-174C>G) c.959C>G (p.Pro320Arg) c.276+17077G>C (n.276+17077G>C) c.*220+5467C>G (n.*220+5467C>G) c.83C>G (p.Pro28Arg) c.110C>G (p.Pro37Arg) c.965C>G (p.Pro322Arg) c.779C>G (p.Pro260Arg) c.698C>G (p.Pro233Arg) c.404C>G (p.Pro135Arg) c.785C>G (p.Pro262Arg) | |
2 | g.48688757G>T | CA346750017 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1040C>A (p.Pro347Gln) c.948-618C>A (n.948-618C>A) c.3441+17077G>T (n.3441+17077G>T) c.948-174C>A (n.948-174C>A) c.959C>A (p.Pro320Gln) c.276+17077G>T (n.276+17077G>T) c.*220+5467C>A (n.*220+5467C>A) c.83C>A (p.Pro28Gln) c.110C>A (p.Pro37Gln) c.965C>A (p.Pro322Gln) c.779C>A (p.Pro260Gln) c.698C>A (p.Pro233Gln) c.404C>A (p.Pro135Gln) c.785C>A (p.Pro262Gln) | |
2 | g.48688758G>A | CA346750018 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C>T (p.Pro347Ser) c.948-619C>T (n.948-619C>T) c.3441+17078G>A (n.3441+17078G>A) c.948-175C>T (n.948-175C>T) c.958C>T (p.Pro320Ser) c.276+17078G>A (n.276+17078G>A) c.*220+5466C>T (n.*220+5466C>T) c.82C>T (p.Pro28Ser) c.109C>T (p.Pro37Ser) c.964C>T (p.Pro322Ser) c.778C>T (p.Pro260Ser) c.697C>T (p.Pro233Ser) c.403C>T (p.Pro135Ser) c.784C>T (p.Pro262Ser) | |
2 | g.48688758G>C | CA1653091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C>G (p.Pro347Ala) c.948-619C>G (n.948-619C>G) c.3441+17078G>C (n.3441+17078G>C) c.948-175C>G (n.948-175C>G) c.958C>G (p.Pro320Ala) c.276+17078G>C (n.276+17078G>C) c.*220+5466C>G (n.*220+5466C>G) c.82C>G (p.Pro28Ala) c.109C>G (p.Pro37Ala) c.964C>G (p.Pro322Ala) c.778C>G (p.Pro260Ala) c.697C>G (p.Pro233Ala) c.403C>G (p.Pro135Ala) c.784C>G (p.Pro262Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688758G= | CA1248601259 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C= (p.Pro347=) c.948-619C= (n.948-619C=) c.3441+17078G= (n.3441+17078G=) c.948-175C= (n.948-175C=) c.958C= (p.Pro320=) c.276+17078G= (n.276+17078G=) c.*220+5466C= (n.*220+5466C=) c.82C= (p.Pro28=) c.109C= (p.Pro37=) c.964C= (p.Pro322=) c.778C= (p.Pro260=) c.697C= (p.Pro233=) c.403C= (p.Pro135=) c.784C= (p.Pro262=) | |
2 | g.48688758G>T | CA346750022 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1039C>A (p.Pro347Thr) c.948-619C>A (n.948-619C>A) c.3441+17078G>T (n.3441+17078G>T) c.948-175C>A (n.948-175C>A) c.958C>A (p.Pro320Thr) c.276+17078G>T (n.276+17078G>T) c.*220+5466C>A (n.*220+5466C>A) c.82C>A (p.Pro28Thr) c.109C>A (p.Pro37Thr) c.964C>A (p.Pro322Thr) c.778C>A (p.Pro260Thr) c.697C>A (p.Pro233Thr) c.403C>A (p.Pro135Thr) c.784C>A (p.Pro262Thr) | |
2 | g.48688759T>A | CA346750024 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1038A>T (p.Glu346Asp) c.948-620A>T (n.948-620A>T) c.3441+17079T>A (n.3441+17079T>A) c.948-176A>T (n.948-176A>T) c.957A>T (p.Glu319Asp) c.276+17079T>A (n.276+17079T>A) c.*220+5465A>T (n.*220+5465A>T) c.81A>T (p.Glu27Asp) c.108A>T (p.Glu36Asp) c.963A>T (p.Glu321Asp) c.777A>T (p.Glu259Asp) c.696A>T (p.Glu232Asp) c.402A>T (p.Glu134Asp) c.783A>T (p.Glu261Asp) | |
2 | g.48688759T>C | CA426124796 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1038A>G (p.Glu346=) c.948-620A>G (n.948-620A>G) c.3441+17079T>C (n.3441+17079T>C) c.948-176A>G (n.948-176A>G) c.957A>G (p.Glu319=) c.276+17079T>C (n.276+17079T>C) c.*220+5465A>G (n.*220+5465A>G) c.81A>G (p.Glu27=) c.108A>G (p.Glu36=) c.963A>G (p.Glu321=) c.777A>G (p.Glu259=) c.696A>G (p.Glu232=) c.402A>G (p.Glu134=) c.783A>G (p.Glu261=) | |
2 | g.48688759T>G | CA346750034 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1038A>C (p.Glu346Asp) c.948-620A>C (n.948-620A>C) c.3441+17079T>G (n.3441+17079T>G) c.948-176A>C (n.948-176A>C) c.957A>C (p.Glu319Asp) c.276+17079T>G (n.276+17079T>G) c.*220+5465A>C (n.*220+5465A>C) c.81A>C (p.Glu27Asp) c.108A>C (p.Glu36Asp) c.963A>C (p.Glu321Asp) c.777A>C (p.Glu259Asp) c.696A>C (p.Glu232Asp) c.402A>C (p.Glu134Asp) c.783A>C (p.Glu261Asp) | |
2 | g.48688760T>A | CA346750037 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1037A>T (p.Glu346Val) c.948-621A>T (n.948-621A>T) c.3441+17080T>A (n.3441+17080T>A) c.948-177A>T (n.948-177A>T) c.956A>T (p.Glu319Val) c.276+17080T>A (n.276+17080T>A) c.*220+5464A>T (n.*220+5464A>T) c.80A>T (p.Glu27Val) c.107A>T (p.Glu36Val) c.962A>T (p.Glu321Val) c.776A>T (p.Glu259Val) c.695A>T (p.Glu232Val) c.401A>T (p.Glu134Val) c.782A>T (p.Glu261Val) | |
2 | g.48688760T>C | CA346750048 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1037A>G (p.Glu346Gly) c.948-621A>G (n.948-621A>G) c.3441+17080T>C (n.3441+17080T>C) c.948-177A>G (n.948-177A>G) c.956A>G (p.Glu319Gly) c.276+17080T>C (n.276+17080T>C) c.*220+5464A>G (n.*220+5464A>G) c.80A>G (p.Glu27Gly) c.107A>G (p.Glu36Gly) c.962A>G (p.Glu321Gly) c.776A>G (p.Glu259Gly) c.695A>G (p.Glu232Gly) c.401A>G (p.Glu134Gly) c.782A>G (p.Glu261Gly) | |
2 | g.48688760T>G | CA346750040 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1037A>C (p.Glu346Ala) c.948-621A>C (n.948-621A>C) c.3441+17080T>G (n.3441+17080T>G) c.948-177A>C (n.948-177A>C) c.956A>C (p.Glu319Ala) c.276+17080T>G (n.276+17080T>G) c.*220+5464A>C (n.*220+5464A>C) c.80A>C (p.Glu27Ala) c.107A>C (p.Glu36Ala) c.962A>C (p.Glu321Ala) c.776A>C (p.Glu259Ala) c.695A>C (p.Glu232Ala) c.401A>C (p.Glu134Ala) c.782A>C (p.Glu261Ala) | |
2 | g.48688761C>A | CA346750049 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1036G>T (p.Glu346Ter) c.948-622G>T (n.948-622G>T) c.3441+17081C>A (n.3441+17081C>A) c.948-178G>T (n.948-178G>T) c.955G>T (p.Glu319Ter) c.276+17081C>A (n.276+17081C>A) c.*220+5463G>T (n.*220+5463G>T) c.79G>T (p.Glu27Ter) c.106G>T (p.Glu36Ter) c.961G>T (p.Glu321Ter) c.775G>T (p.Glu259Ter) c.694G>T (p.Glu232Ter) c.400G>T (p.Glu134Ter) c.781G>T (p.Glu261Ter) | |
2 | g.48688761C>G | CA346750053 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1036G>C (p.Glu346Gln) c.948-622G>C (n.948-622G>C) c.3441+17081C>G (n.3441+17081C>G) c.948-178G>C (n.948-178G>C) c.955G>C (p.Glu319Gln) c.276+17081C>G (n.276+17081C>G) c.*220+5463G>C (n.*220+5463G>C) c.79G>C (p.Glu27Gln) c.106G>C (p.Glu36Gln) c.961G>C (p.Glu321Gln) c.775G>C (p.Glu259Gln) c.694G>C (p.Glu232Gln) c.400G>C (p.Glu134Gln) c.781G>C (p.Glu261Gln) | |
2 | g.48688761C>T | CA346750051 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1036G>A (p.Glu346Lys) c.948-622G>A (n.948-622G>A) c.3441+17081C>T (n.3441+17081C>T) c.948-178G>A (n.948-178G>A) c.955G>A (p.Glu319Lys) c.276+17081C>T (n.276+17081C>T) c.*220+5463G>A (n.*220+5463G>A) c.79G>A (p.Glu27Lys) c.106G>A (p.Glu36Lys) c.961G>A (p.Glu321Lys) c.775G>A (p.Glu259Lys) c.694G>A (p.Glu232Lys) c.400G>A (p.Glu134Lys) c.781G>A (p.Glu261Lys) | COSMIC |
2 | g.48688762A>C | CA426124800 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1035T>G (p.Pro345=) c.948-623T>G (n.948-623T>G) c.3441+17082A>C (n.3441+17082A>C) c.948-179T>G (n.948-179T>G) c.954T>G (p.Pro318=) c.276+17082A>C (n.276+17082A>C) c.*220+5462T>G (n.*220+5462T>G) c.78T>G (p.Pro26=) c.105T>G (p.Pro35=) c.960T>G (p.Pro320=) c.774T>G (p.Pro258=) c.693T>G (p.Pro231=) c.399T>G (p.Pro133=) c.780T>G (p.Pro260=) | |
2 | g.48688762A>G | CA426124801 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1035T>C (p.Pro345=) c.948-623T>C (n.948-623T>C) c.3441+17082A>G (n.3441+17082A>G) c.948-179T>C (n.948-179T>C) c.954T>C (p.Pro318=) c.276+17082A>G (n.276+17082A>G) c.*220+5462T>C (n.*220+5462T>C) c.78T>C (p.Pro26=) c.105T>C (p.Pro35=) c.960T>C (p.Pro320=) c.774T>C (p.Pro258=) c.693T>C (p.Pro231=) c.399T>C (p.Pro133=) c.780T>C (p.Pro260=) | |
2 | g.48688762A>T | CA426124802 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1035T>A (p.Pro345=) c.948-623T>A (n.948-623T>A) c.3441+17082A>T (n.3441+17082A>T) c.948-179T>A (n.948-179T>A) c.954T>A (p.Pro318=) c.276+17082A>T (n.276+17082A>T) c.*220+5462T>A (n.*220+5462T>A) c.78T>A (p.Pro26=) c.105T>A (p.Pro35=) c.960T>A (p.Pro320=) c.774T>A (p.Pro258=) c.693T>A (p.Pro231=) c.399T>A (p.Pro133=) c.780T>A (p.Pro260=) | |
2 | g.48688763G>A | CA346750055 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1034C>T (p.Pro345Leu) c.948-624C>T (n.948-624C>T) c.3441+17083G>A (n.3441+17083G>A) c.948-180C>T (n.948-180C>T) c.953C>T (p.Pro318Leu) c.276+17083G>A (n.276+17083G>A) c.*220+5461C>T (n.*220+5461C>T) c.77C>T (p.Pro26Leu) c.104C>T (p.Pro35Leu) c.959C>T (p.Pro320Leu) c.773C>T (p.Pro258Leu) c.692C>T (p.Pro231Leu) c.398C>T (p.Pro133Leu) c.779C>T (p.Pro260Leu) | |
2 | g.48688763G>C | CA346750060 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1034C>G (p.Pro345Arg) c.948-624C>G (n.948-624C>G) c.3441+17083G>C (n.3441+17083G>C) c.948-180C>G (n.948-180C>G) c.953C>G (p.Pro318Arg) c.276+17083G>C (n.276+17083G>C) c.*220+5461C>G (n.*220+5461C>G) c.77C>G (p.Pro26Arg) c.104C>G (p.Pro35Arg) c.959C>G (p.Pro320Arg) c.773C>G (p.Pro258Arg) c.692C>G (p.Pro231Arg) c.398C>G (p.Pro133Arg) c.779C>G (p.Pro260Arg) | |
2 | g.48688763G>T | CA346750058 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1034C>A (p.Pro345His) c.948-624C>A (n.948-624C>A) c.3441+17083G>T (n.3441+17083G>T) c.948-180C>A (n.948-180C>A) c.953C>A (p.Pro318His) c.276+17083G>T (n.276+17083G>T) c.*220+5461C>A (n.*220+5461C>A) c.77C>A (p.Pro26His) c.104C>A (p.Pro35His) c.959C>A (p.Pro320His) c.773C>A (p.Pro258His) c.692C>A (p.Pro231His) c.398C>A (p.Pro133His) c.779C>A (p.Pro260His) | |
2 | g.48688764G>A | CA346750061 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1033C>T (p.Pro345Ser) c.948-625C>T (n.948-625C>T) c.3441+17084G>A (n.3441+17084G>A) c.948-181C>T (n.948-181C>T) c.952C>T (p.Pro318Ser) c.276+17084G>A (n.276+17084G>A) c.*220+5460C>T (n.*220+5460C>T) c.76C>T (p.Pro26Ser) c.103C>T (p.Pro35Ser) c.958C>T (p.Pro320Ser) c.772C>T (p.Pro258Ser) c.691C>T (p.Pro231Ser) c.397C>T (p.Pro133Ser) c.778C>T (p.Pro260Ser) | gnomAD v4 COSMIC |
2 | g.48688764G>C | CA346750062 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1033C>G (p.Pro345Ala) c.948-625C>G (n.948-625C>G) c.3441+17084G>C (n.3441+17084G>C) c.948-181C>G (n.948-181C>G) c.952C>G (p.Pro318Ala) c.276+17084G>C (n.276+17084G>C) c.*220+5460C>G (n.*220+5460C>G) c.76C>G (p.Pro26Ala) c.103C>G (p.Pro35Ala) c.958C>G (p.Pro320Ala) c.772C>G (p.Pro258Ala) c.691C>G (p.Pro231Ala) c.397C>G (p.Pro133Ala) c.778C>G (p.Pro260Ala) | |
2 | g.48688764G>T | CA346750064 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1033C>A (p.Pro345Thr) c.948-625C>A (n.948-625C>A) c.3441+17084G>T (n.3441+17084G>T) c.948-181C>A (n.948-181C>A) c.952C>A (p.Pro318Thr) c.276+17084G>T (n.276+17084G>T) c.*220+5460C>A (n.*220+5460C>A) c.76C>A (p.Pro26Thr) c.103C>A (p.Pro35Thr) c.958C>A (p.Pro320Thr) c.772C>A (p.Pro258Thr) c.691C>A (p.Pro231Thr) c.397C>A (p.Pro133Thr) c.778C>A (p.Pro260Thr) | |
2 | g.48688765A>C | CA426124806 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1032T>G (p.Ala344=) c.948-626T>G (n.948-626T>G) c.3441+17085A>C (n.3441+17085A>C) c.948-182T>G (n.948-182T>G) c.951T>G (p.Ala317=) c.276+17085A>C (n.276+17085A>C) c.*220+5459T>G (n.*220+5459T>G) c.75T>G (p.Ala25=) c.102T>G (p.Ala34=) c.957T>G (p.Ala319=) c.771T>G (p.Ala257=) c.690T>G (p.Ala230=) c.396T>G (p.Ala132=) c.777T>G (p.Ala259=) | |
2 | g.48688765A>G | CA426124807 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1032T>C (p.Ala344=) c.948-626T>C (n.948-626T>C) c.3441+17085A>G (n.3441+17085A>G) c.948-182T>C (n.948-182T>C) c.951T>C (p.Ala317=) c.276+17085A>G (n.276+17085A>G) c.*220+5459T>C (n.*220+5459T>C) c.75T>C (p.Ala25=) c.102T>C (p.Ala34=) c.957T>C (p.Ala319=) c.771T>C (p.Ala257=) c.690T>C (p.Ala230=) c.396T>C (p.Ala132=) c.777T>C (p.Ala259=) | |
2 | g.48688765A>T | CA426124808 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1032T>A (p.Ala344=) c.948-626T>A (n.948-626T>A) c.3441+17085A>T (n.3441+17085A>T) c.948-182T>A (n.948-182T>A) c.951T>A (p.Ala317=) c.276+17085A>T (n.276+17085A>T) c.*220+5459T>A (n.*220+5459T>A) c.75T>A (p.Ala25=) c.102T>A (p.Ala34=) c.957T>A (p.Ala319=) c.771T>A (p.Ala257=) c.690T>A (p.Ala230=) c.396T>A (p.Ala132=) c.777T>A (p.Ala259=) | |
2 | g.48688766G>A | CA1653092 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1031C>T (p.Ala344Val) c.948-627C>T (n.948-627C>T) c.3441+17086G>A (n.3441+17086G>A) c.948-183C>T (n.948-183C>T) c.950C>T (p.Ala317Val) c.276+17086G>A (n.276+17086G>A) c.*220+5458C>T (n.*220+5458C>T) c.74C>T (p.Ala25Val) c.101C>T (p.Ala34Val) c.956C>T (p.Ala319Val) c.770C>T (p.Ala257Val) c.689C>T (p.Ala230Val) c.395C>T (p.Ala132Val) c.776C>T (p.Ala259Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688766G>C | CA346750067 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1031C>G (p.Ala344Gly) c.948-627C>G (n.948-627C>G) c.3441+17086G>C (n.3441+17086G>C) c.948-183C>G (n.948-183C>G) c.950C>G (p.Ala317Gly) c.276+17086G>C (n.276+17086G>C) c.*220+5458C>G (n.*220+5458C>G) c.74C>G (p.Ala25Gly) c.101C>G (p.Ala34Gly) c.956C>G (p.Ala319Gly) c.770C>G (p.Ala257Gly) c.689C>G (p.Ala230Gly) c.395C>G (p.Ala132Gly) c.776C>G (p.Ala259Gly) | |
2 | g.48688766G= | CA1248601260 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1031C= (p.Ala344=) c.948-627C= (n.948-627C=) c.3441+17086G= (n.3441+17086G=) c.948-183C= (n.948-183C=) c.950C= (p.Ala317=) c.276+17086G= (n.276+17086G=) c.*220+5458C= (n.*220+5458C=) c.74C= (p.Ala25=) c.101C= (p.Ala34=) c.956C= (p.Ala319=) c.770C= (p.Ala257=) c.689C= (p.Ala230=) c.395C= (p.Ala132=) c.776C= (p.Ala259=) | |
2 | g.48688766G>T | CA346750068 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1031C>A (p.Ala344Asp) c.948-627C>A (n.948-627C>A) c.3441+17086G>T (n.3441+17086G>T) c.948-183C>A (n.948-183C>A) c.950C>A (p.Ala317Asp) c.276+17086G>T (n.276+17086G>T) c.*220+5458C>A (n.*220+5458C>A) c.74C>A (p.Ala25Asp) c.101C>A (p.Ala34Asp) c.956C>A (p.Ala319Asp) c.770C>A (p.Ala257Asp) c.689C>A (p.Ala230Asp) c.395C>A (p.Ala132Asp) c.776C>A (p.Ala259Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688767C>A | CA346750071 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1030G>T (p.Ala344Ser) c.948-628G>T (n.948-628G>T) c.3441+17087C>A (n.3441+17087C>A) c.948-184G>T (n.948-184G>T) c.949G>T (p.Ala317Ser) c.276+17087C>A (n.276+17087C>A) c.*220+5457G>T (n.*220+5457G>T) c.73G>T (p.Ala25Ser) c.100G>T (p.Ala34Ser) c.955G>T (p.Ala319Ser) c.769G>T (p.Ala257Ser) c.688G>T (p.Ala230Ser) c.394G>T (p.Ala132Ser) c.775G>T (p.Ala259Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688767C= | CA1248601261 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1030G= (p.Ala344=) c.948-628G= (n.948-628G=) c.3441+17087C= (n.3441+17087C=) c.948-184G= (n.948-184G=) c.949G= (p.Ala317=) c.276+17087C= (n.276+17087C=) c.*220+5457G= (n.*220+5457G=) c.73G= (p.Ala25=) c.100G= (p.Ala34=) c.955G= (p.Ala319=) c.769G= (p.Ala257=) c.688G= (p.Ala230=) c.394G= (p.Ala132=) c.775G= (p.Ala259=) | |
2 | g.48688767C>G | CA346750072 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1030G>C (p.Ala344Pro) c.948-628G>C (n.948-628G>C) c.3441+17087C>G (n.3441+17087C>G) c.948-184G>C (n.948-184G>C) c.949G>C (p.Ala317Pro) c.276+17087C>G (n.276+17087C>G) c.*220+5457G>C (n.*220+5457G>C) c.73G>C (p.Ala25Pro) c.100G>C (p.Ala34Pro) c.955G>C (p.Ala319Pro) c.769G>C (p.Ala257Pro) c.688G>C (p.Ala230Pro) c.394G>C (p.Ala132Pro) c.775G>C (p.Ala259Pro) | COSMIC |
2 | g.48688767C>T | CA346750075 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1030G>A (p.Ala344Thr) c.948-628G>A (n.948-628G>A) c.3441+17087C>T (n.3441+17087C>T) c.948-184G>A (n.948-184G>A) c.949G>A (p.Ala317Thr) c.276+17087C>T (n.276+17087C>T) c.*220+5457G>A (n.*220+5457G>A) c.73G>A (p.Ala25Thr) c.100G>A (p.Ala34Thr) c.955G>A (p.Ala319Thr) c.769G>A (p.Ala257Thr) c.688G>A (p.Ala230Thr) c.394G>A (p.Ala132Thr) c.775G>A (p.Ala259Thr) | |
2 | g.48688768A>C | CA346750077 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1029T>G (p.Cys343Trp) c.948-629T>G (n.948-629T>G) c.3441+17088A>C (n.3441+17088A>C) c.948-185T>G (n.948-185T>G) c.948T>G (p.Cys316Trp) c.276+17088A>C (n.276+17088A>C) c.*220+5456T>G (n.*220+5456T>G) c.72T>G (p.Cys24Trp) c.99T>G (p.Cys33Trp) c.954T>G (p.Cys318Trp) c.768T>G (p.Cys256Trp) c.687T>G (p.Cys229Trp) c.393T>G (p.Cys131Trp) c.774T>G (p.Cys258Trp) | |
2 | g.48688768A>G | CA426124812 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1029T>C (p.Cys343=) c.948-629T>C (n.948-629T>C) c.3441+17088A>G (n.3441+17088A>G) c.948-185T>C (n.948-185T>C) c.948T>C (p.Cys316=) c.276+17088A>G (n.276+17088A>G) c.*220+5456T>C (n.*220+5456T>C) c.72T>C (p.Cys24=) c.99T>C (p.Cys33=) c.954T>C (p.Cys318=) c.768T>C (p.Cys256=) c.687T>C (p.Cys229=) c.393T>C (p.Cys131=) c.774T>C (p.Cys258=) | gnomAD v4 |
2 | g.48688768A>T | CA346750078 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1029T>A (p.Cys343Ter) c.948-629T>A (n.948-629T>A) c.3441+17088A>T (n.3441+17088A>T) c.948-185T>A (n.948-185T>A) c.948T>A (p.Cys316Ter) c.276+17088A>T (n.276+17088A>T) c.*220+5456T>A (n.*220+5456T>A) c.72T>A (p.Cys24Ter) c.99T>A (p.Cys33Ter) c.954T>A (p.Cys318Ter) c.768T>A (p.Cys256Ter) c.687T>A (p.Cys229Ter) c.393T>A (p.Cys131Ter) c.774T>A (p.Cys258Ter) | |
2 | g.48688769C>A | CA346750089 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1028G>T (p.Cys343Phe) c.948-630G>T (n.948-630G>T) c.3441+17089C>A (n.3441+17089C>A) c.948-186G>T (n.948-186G>T) c.947G>T (p.Cys316Phe) c.276+17089C>A (n.276+17089C>A) c.*220+5455G>T (n.*220+5455G>T) c.71G>T (p.Cys24Phe) c.98G>T (p.Cys33Phe) c.953G>T (p.Cys318Phe) c.767G>T (p.Cys256Phe) c.686G>T (p.Cys229Phe) c.392G>T (p.Cys131Phe) c.773G>T (p.Cys258Phe) | |
2 | g.48688769C>G | CA346750087 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1028G>C (p.Cys343Ser) c.948-630G>C (n.948-630G>C) c.3441+17089C>G (n.3441+17089C>G) c.948-186G>C (n.948-186G>C) c.947G>C (p.Cys316Ser) c.276+17089C>G (n.276+17089C>G) c.*220+5455G>C (n.*220+5455G>C) c.71G>C (p.Cys24Ser) c.98G>C (p.Cys33Ser) c.953G>C (p.Cys318Ser) c.767G>C (p.Cys256Ser) c.686G>C (p.Cys229Ser) c.392G>C (p.Cys131Ser) c.773G>C (p.Cys258Ser) | |
2 | g.48688769C>T | CA346750083 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1028G>A (p.Cys343Tyr) c.948-630G>A (n.948-630G>A) c.3441+17089C>T (n.3441+17089C>T) c.948-186G>A (n.948-186G>A) c.947G>A (p.Cys316Tyr) c.276+17089C>T (n.276+17089C>T) c.*220+5455G>A (n.*220+5455G>A) c.71G>A (p.Cys24Tyr) c.98G>A (p.Cys33Tyr) c.953G>A (p.Cys318Tyr) c.767G>A (p.Cys256Tyr) c.686G>A (p.Cys229Tyr) c.392G>A (p.Cys131Tyr) c.773G>A (p.Cys258Tyr) | gnomAD v4 |
2 | g.48688770A= | CA1248601262 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1027T= (p.Cys343=) c.948-631T= (n.948-631T=) c.3441+17090A= (n.3441+17090A=) c.948-187T= (n.948-187T=) c.946T= (p.Cys316=) c.276+17090A= (n.276+17090A=) c.*220+5454T= (n.*220+5454T=) c.70T= (p.Cys24=) c.97T= (p.Cys33=) c.952T= (p.Cys318=) c.766T= (p.Cys256=) c.685T= (p.Cys229=) c.391T= (p.Cys131=) c.772T= (p.Cys258=) | |
2 | g.48688770A>C | CA346750091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1027T>G (p.Cys343Gly) c.948-631T>G (n.948-631T>G) c.3441+17090A>C (n.3441+17090A>C) c.948-187T>G (n.948-187T>G) c.946T>G (p.Cys316Gly) c.276+17090A>C (n.276+17090A>C) c.*220+5454T>G (n.*220+5454T>G) c.70T>G (p.Cys24Gly) c.97T>G (p.Cys33Gly) c.952T>G (p.Cys318Gly) c.766T>G (p.Cys256Gly) c.685T>G (p.Cys229Gly) c.391T>G (p.Cys131Gly) c.772T>G (p.Cys258Gly) | |
2 | g.48688770A>G | CA346750095 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1027T>C (p.Cys343Arg) c.948-631T>C (n.948-631T>C) c.3441+17090A>G (n.3441+17090A>G) c.948-187T>C (n.948-187T>C) c.946T>C (p.Cys316Arg) c.276+17090A>G (n.276+17090A>G) c.*220+5454T>C (n.*220+5454T>C) c.70T>C (p.Cys24Arg) c.97T>C (p.Cys33Arg) c.952T>C (p.Cys318Arg) c.766T>C (p.Cys256Arg) c.685T>C (p.Cys229Arg) c.391T>C (p.Cys131Arg) c.772T>C (p.Cys258Arg) | |
2 | g.48688770A>T | CA250649 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1027T>A (p.Cys343Ser) c.948-631T>A (n.948-631T>A) c.3441+17090A>T (n.3441+17090A>T) c.948-187T>A (n.948-187T>A) c.946T>A (p.Cys316Ser) c.276+17090A>T (n.276+17090A>T) c.*220+5454T>A (n.*220+5454T>A) c.70T>A (p.Cys24Ser) c.97T>A (p.Cys33Ser) c.952T>A (p.Cys318Ser) c.766T>A (p.Cys256Ser) c.685T>A (p.Cys229Ser) c.391T>A (p.Cys131Ser) c.772T>A (p.Cys258Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
2 | g.48688771T>A | CA426124839 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1026A>T (p.Arg342=) c.948-632A>T (n.948-632A>T) c.3441+17091T>A (n.3441+17091T>A) c.948-188A>T (n.948-188A>T) c.945A>T (p.Arg315=) c.276+17091T>A (n.276+17091T>A) c.*220+5453A>T (n.*220+5453A>T) c.69A>T (p.Arg23=) c.96A>T (p.Arg32=) c.951A>T (p.Arg317=) c.765A>T (p.Arg255=) c.684A>T (p.Arg228=) c.390A>T (p.Arg130=) c.771A>T (p.Arg257=) | |
2 | g.48688771T>C | CA426124840 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1026A>G (p.Arg342=) c.948-632A>G (n.948-632A>G) c.3441+17091T>C (n.3441+17091T>C) c.948-188A>G (n.948-188A>G) c.945A>G (p.Arg315=) c.276+17091T>C (n.276+17091T>C) c.*220+5453A>G (n.*220+5453A>G) c.69A>G (p.Arg23=) c.96A>G (p.Arg32=) c.951A>G (p.Arg317=) c.765A>G (p.Arg255=) c.684A>G (p.Arg228=) c.390A>G (p.Arg130=) c.771A>G (p.Arg257=) | |
2 | g.48688771T>G | CA426124841 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1026A>C (p.Arg342=) c.948-632A>C (n.948-632A>C) c.3441+17091T>G (n.3441+17091T>G) c.948-188A>C (n.948-188A>C) c.945A>C (p.Arg315=) c.276+17091T>G (n.276+17091T>G) c.*220+5453A>C (n.*220+5453A>C) c.69A>C (p.Arg23=) c.96A>C (p.Arg32=) c.951A>C (p.Arg317=) c.765A>C (p.Arg255=) c.684A>C (p.Arg228=) c.390A>C (p.Arg130=) c.771A>C (p.Arg257=) | |
2 | g.48688772C>A | CA346750099 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1025G>T (p.Arg342Leu) c.948-633G>T (n.948-633G>T) c.3441+17092C>A (n.3441+17092C>A) c.948-189G>T (n.948-189G>T) c.944G>T (p.Arg315Leu) c.276+17092C>A (n.276+17092C>A) c.*220+5452G>T (n.*220+5452G>T) c.68G>T (p.Arg23Leu) c.95G>T (p.Arg32Leu) c.950G>T (p.Arg317Leu) c.764G>T (p.Arg255Leu) c.683G>T (p.Arg228Leu) c.389G>T (p.Arg130Leu) c.770G>T (p.Arg257Leu) | gnomAD v4 |
2 | g.48688772C= | CA1248601263 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1025G= (p.Arg342=) c.948-633G= (n.948-633G=) c.3441+17092C= (n.3441+17092C=) c.948-189G= (n.948-189G=) c.944G= (p.Arg315=) c.276+17092C= (n.276+17092C=) c.*220+5452G= (n.*220+5452G=) c.68G= (p.Arg23=) c.95G= (p.Arg32=) c.950G= (p.Arg317=) c.764G= (p.Arg255=) c.683G= (p.Arg228=) c.389G= (p.Arg130=) c.770G= (p.Arg257=) | |
2 | g.48688772C>G | CA346750102 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1025G>C (p.Arg342Pro) c.948-633G>C (n.948-633G>C) c.3441+17092C>G (n.3441+17092C>G) c.948-189G>C (n.948-189G>C) c.944G>C (p.Arg315Pro) c.276+17092C>G (n.276+17092C>G) c.*220+5452G>C (n.*220+5452G>C) c.68G>C (p.Arg23Pro) c.95G>C (p.Arg32Pro) c.950G>C (p.Arg317Pro) c.764G>C (p.Arg255Pro) c.683G>C (p.Arg228Pro) c.389G>C (p.Arg130Pro) c.770G>C (p.Arg257Pro) | |
2 | g.48688772C>T | CA1653093 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1025G>A (p.Arg342Gln) c.948-633G>A (n.948-633G>A) c.3441+17092C>T (n.3441+17092C>T) c.948-189G>A (n.948-189G>A) c.944G>A (p.Arg315Gln) c.276+17092C>T (n.276+17092C>T) c.*220+5452G>A (n.*220+5452G>A) c.68G>A (p.Arg23Gln) c.95G>A (p.Arg32Gln) c.950G>A (p.Arg317Gln) c.764G>A (p.Arg255Gln) c.683G>A (p.Arg228Gln) c.389G>A (p.Arg130Gln) c.770G>A (p.Arg257Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688773G>A | CA1653094 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1024C>T (p.Arg342Ter) c.948-634C>T (n.948-634C>T) c.3441+17093G>A (n.3441+17093G>A) c.948-190C>T (n.948-190C>T) c.943C>T (p.Arg315Ter) c.276+17093G>A (n.276+17093G>A) c.*220+5451C>T (n.*220+5451C>T) c.67C>T (p.Arg23Ter) c.94C>T (p.Arg32Ter) c.949C>T (p.Arg317Ter) c.763C>T (p.Arg255Ter) c.682C>T (p.Arg228Ter) c.388C>T (p.Arg130Ter) c.769C>T (p.Arg257Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688773G>C | CA346750122 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1024C>G (p.Arg342Gly) c.948-634C>G (n.948-634C>G) c.3441+17093G>C (n.3441+17093G>C) c.948-190C>G (n.948-190C>G) c.943C>G (p.Arg315Gly) c.276+17093G>C (n.276+17093G>C) c.*220+5451C>G (n.*220+5451C>G) c.67C>G (p.Arg23Gly) c.94C>G (p.Arg32Gly) c.949C>G (p.Arg317Gly) c.763C>G (p.Arg255Gly) c.682C>G (p.Arg228Gly) c.388C>G (p.Arg130Gly) c.769C>G (p.Arg257Gly) | |
2 | g.48688773G= | CA1248601264 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1024C= (p.Arg342=) c.948-634C= (n.948-634C=) c.3441+17093G= (n.3441+17093G=) c.948-190C= (n.948-190C=) c.943C= (p.Arg315=) c.276+17093G= (n.276+17093G=) c.*220+5451C= (n.*220+5451C=) c.67C= (p.Arg23=) c.94C= (p.Arg32=) c.949C= (p.Arg317=) c.763C= (p.Arg255=) c.682C= (p.Arg228=) c.388C= (p.Arg130=) c.769C= (p.Arg257=) | |
2 | g.48688773G>T | CA426124842 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1024C>A (p.Arg342=) c.948-634C>A (n.948-634C>A) c.3441+17093G>T (n.3441+17093G>T) c.948-190C>A (n.948-190C>A) c.943C>A (p.Arg315=) c.276+17093G>T (n.276+17093G>T) c.*220+5451C>A (n.*220+5451C>A) c.67C>A (p.Arg23=) c.94C>A (p.Arg32=) c.949C>A (p.Arg317=) c.763C>A (p.Arg255=) c.682C>A (p.Arg228=) c.388C>A (p.Arg130=) c.769C>A (p.Arg257=) | |
2 | g.48688776del | CA2658992090 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1024del (p.Arg342AspfsTer24) c.948-634del (n.948-634del) c.3441+17096del (n.3441+17096del) c.948-190del (n.948-190del) c.943del (p.Arg315AspfsTer24) c.276+17096del (n.276+17096del) c.*220+5451del (n.*220+5451del) c.67del (p.Arg23AspfsTer24) c.94del (p.Arg32AspfsTer24) c.949del (p.Arg317AspfsTer24) c.763del (p.Arg255AspfsTer24) c.682del (p.Arg228AspfsTer24) c.388del (p.Arg130AspfsTer24) c.769del (p.Arg257AspfsTer24) | gnomAD v4 |
2 | g.48688774G>A | CA426124843 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1023C>T (p.Pro341=) c.948-635C>T (n.948-635C>T) c.3441+17094G>A (n.3441+17094G>A) c.948-191C>T (n.948-191C>T) c.942C>T (p.Pro314=) c.276+17094G>A (n.276+17094G>A) c.*220+5450C>T (n.*220+5450C>T) c.66C>T (p.Pro22=) c.93C>T (p.Pro31=) c.948C>T (p.Pro316=) c.762C>T (p.Pro254=) c.681C>T (p.Pro227=) c.387C>T (p.Pro129=) c.768C>T (p.Pro256=) | ClinVar COSMIC |
2 | g.48688774G>C | CA426124844 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1023C>G (p.Pro341=) c.948-635C>G (n.948-635C>G) c.3441+17094G>C (n.3441+17094G>C) c.948-191C>G (n.948-191C>G) c.942C>G (p.Pro314=) c.276+17094G>C (n.276+17094G>C) c.*220+5450C>G (n.*220+5450C>G) c.66C>G (p.Pro22=) c.93C>G (p.Pro31=) c.948C>G (p.Pro316=) c.762C>G (p.Pro254=) c.681C>G (p.Pro227=) c.387C>G (p.Pro129=) c.768C>G (p.Pro256=) | |
2 | g.48688774G>T | CA426124845 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1023C>A (p.Pro341=) c.948-635C>A (n.948-635C>A) c.3441+17094G>T (n.3441+17094G>T) c.948-191C>A (n.948-191C>A) c.942C>A (p.Pro314=) c.276+17094G>T (n.276+17094G>T) c.*220+5450C>A (n.*220+5450C>A) c.66C>A (p.Pro22=) c.93C>A (p.Pro31=) c.948C>A (p.Pro316=) c.762C>A (p.Pro254=) c.681C>A (p.Pro227=) c.387C>A (p.Pro129=) c.768C>A (p.Pro256=) | |
2 | g.48688775G>A | CA346750125 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1022C>T (p.Pro341Leu) c.948-636C>T (n.948-636C>T) c.3441+17095G>A (n.3441+17095G>A) c.948-192C>T (n.948-192C>T) c.941C>T (p.Pro314Leu) c.276+17095G>A (n.276+17095G>A) c.*220+5449C>T (n.*220+5449C>T) c.65C>T (p.Pro22Leu) c.92C>T (p.Pro31Leu) c.947C>T (p.Pro316Leu) c.761C>T (p.Pro254Leu) c.680C>T (p.Pro227Leu) c.386C>T (p.Pro129Leu) c.767C>T (p.Pro256Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688775G>C | CA346750128 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1022C>G (p.Pro341Arg) c.948-636C>G (n.948-636C>G) c.3441+17095G>C (n.3441+17095G>C) c.948-192C>G (n.948-192C>G) c.941C>G (p.Pro314Arg) c.276+17095G>C (n.276+17095G>C) c.*220+5449C>G (n.*220+5449C>G) c.65C>G (p.Pro22Arg) c.92C>G (p.Pro31Arg) c.947C>G (p.Pro316Arg) c.761C>G (p.Pro254Arg) c.680C>G (p.Pro227Arg) c.386C>G (p.Pro129Arg) c.767C>G (p.Pro256Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688775G= | CA1248601265 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1022C= (p.Pro341=) c.948-636C= (n.948-636C=) c.3441+17095G= (n.3441+17095G=) c.948-192C= (n.948-192C=) c.941C= (p.Pro314=) c.276+17095G= (n.276+17095G=) c.*220+5449C= (n.*220+5449C=) c.65C= (p.Pro22=) c.92C= (p.Pro31=) c.947C= (p.Pro316=) c.761C= (p.Pro254=) c.680C= (p.Pro227=) c.386C= (p.Pro129=) c.767C= (p.Pro256=) | |
2 | g.48688775G>T | CA346750131 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1022C>A (p.Pro341His) c.948-636C>A (n.948-636C>A) c.3441+17095G>T (n.3441+17095G>T) c.948-192C>A (n.948-192C>A) c.941C>A (p.Pro314His) c.276+17095G>T (n.276+17095G>T) c.*220+5449C>A (n.*220+5449C>A) c.65C>A (p.Pro22His) c.92C>A (p.Pro31His) c.947C>A (p.Pro316His) c.761C>A (p.Pro254His) c.680C>A (p.Pro227His) c.386C>A (p.Pro129His) c.767C>A (p.Pro256His) | |
2 | g.48688776G>A | CA346750140 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1021C>T (p.Pro341Ser) c.948-637C>T (n.948-637C>T) c.3441+17096G>A (n.3441+17096G>A) c.948-193C>T (n.948-193C>T) c.940C>T (p.Pro314Ser) c.276+17096G>A (n.276+17096G>A) c.*220+5448C>T (n.*220+5448C>T) c.64C>T (p.Pro22Ser) c.91C>T (p.Pro31Ser) c.946C>T (p.Pro316Ser) c.760C>T (p.Pro254Ser) c.679C>T (p.Pro227Ser) c.385C>T (p.Pro129Ser) c.766C>T (p.Pro256Ser) | |
2 | g.48688776G>C | CA346750138 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1021C>G (p.Pro341Ala) c.948-637C>G (n.948-637C>G) c.3441+17096G>C (n.3441+17096G>C) c.948-193C>G (n.948-193C>G) c.940C>G (p.Pro314Ala) c.276+17096G>C (n.276+17096G>C) c.*220+5448C>G (n.*220+5448C>G) c.64C>G (p.Pro22Ala) c.91C>G (p.Pro31Ala) c.946C>G (p.Pro316Ala) c.760C>G (p.Pro254Ala) c.679C>G (p.Pro227Ala) c.385C>G (p.Pro129Ala) c.766C>G (p.Pro256Ala) | |
2 | g.48688776G>T | CA346750135 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1021C>A (p.Pro341Thr) c.948-637C>A (n.948-637C>A) c.3441+17096G>T (n.3441+17096G>T) c.948-193C>A (n.948-193C>A) c.940C>A (p.Pro314Thr) c.276+17096G>T (n.276+17096G>T) c.*220+5448C>A (n.*220+5448C>A) c.64C>A (p.Pro22Thr) c.91C>A (p.Pro31Thr) c.946C>A (p.Pro316Thr) c.760C>A (p.Pro254Thr) c.679C>A (p.Pro227Thr) c.385C>A (p.Pro129Thr) c.766C>A (p.Pro256Thr) | gnomAD v4 |
2 | g.48688777T>A | CA426124846 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1020A>T (p.Thr340=) c.948-638A>T (n.948-638A>T) c.3441+17097T>A (n.3441+17097T>A) c.948-194A>T (n.948-194A>T) c.939A>T (p.Thr313=) c.276+17097T>A (n.276+17097T>A) c.*220+5447A>T (n.*220+5447A>T) c.63A>T (p.Thr21=) c.90A>T (p.Thr30=) c.945A>T (p.Thr315=) c.759A>T (p.Thr253=) c.678A>T (p.Thr226=) c.384A>T (p.Thr128=) c.765A>T (p.Thr255=) | |
2 | g.48688777T>C | CA426124847 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1020A>G (p.Thr340=) c.948-638A>G (n.948-638A>G) c.3441+17097T>C (n.3441+17097T>C) c.948-194A>G (n.948-194A>G) c.939A>G (p.Thr313=) c.276+17097T>C (n.276+17097T>C) c.*220+5447A>G (n.*220+5447A>G) c.63A>G (p.Thr21=) c.90A>G (p.Thr30=) c.945A>G (p.Thr315=) c.759A>G (p.Thr253=) c.678A>G (p.Thr226=) c.384A>G (p.Thr128=) c.765A>G (p.Thr255=) | |
2 | g.48688777T>G | CA426124848 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1020A>C (p.Thr340=) c.948-638A>C (n.948-638A>C) c.3441+17097T>G (n.3441+17097T>G) c.948-194A>C (n.948-194A>C) c.939A>C (p.Thr313=) c.276+17097T>G (n.276+17097T>G) c.*220+5447A>C (n.*220+5447A>C) c.63A>C (p.Thr21=) c.90A>C (p.Thr30=) c.945A>C (p.Thr315=) c.759A>C (p.Thr253=) c.678A>C (p.Thr226=) c.384A>C (p.Thr128=) c.765A>C (p.Thr255=) | |
2 | g.48688778G>A | CA346750144 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1019C>T (p.Thr340Ile) c.948-639C>T (n.948-639C>T) c.3441+17098G>A (n.3441+17098G>A) c.948-195C>T (n.948-195C>T) c.938C>T (p.Thr313Ile) c.276+17098G>A (n.276+17098G>A) c.*220+5446C>T (n.*220+5446C>T) c.62C>T (p.Thr21Ile) c.89C>T (p.Thr30Ile) c.944C>T (p.Thr315Ile) c.758C>T (p.Thr253Ile) c.677C>T (p.Thr226Ile) c.383C>T (p.Thr128Ile) c.764C>T (p.Thr255Ile) | dbSNP gnomAD v4 |
2 | g.48688778G>C | CA346750147 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1019C>G (p.Thr340Arg) c.948-639C>G (n.948-639C>G) c.3441+17098G>C (n.3441+17098G>C) c.948-195C>G (n.948-195C>G) c.938C>G (p.Thr313Arg) c.276+17098G>C (n.276+17098G>C) c.*220+5446C>G (n.*220+5446C>G) c.62C>G (p.Thr21Arg) c.89C>G (p.Thr30Arg) c.944C>G (p.Thr315Arg) c.758C>G (p.Thr253Arg) c.677C>G (p.Thr226Arg) c.383C>G (p.Thr128Arg) c.764C>G (p.Thr255Arg) | |
2 | g.48688778G= | CA1248601266 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1019C= (p.Thr340=) c.948-639C= (n.948-639C=) c.3441+17098G= (n.3441+17098G=) c.948-195C= (n.948-195C=) c.938C= (p.Thr313=) c.276+17098G= (n.276+17098G=) c.*220+5446C= (n.*220+5446C=) c.62C= (p.Thr21=) c.89C= (p.Thr30=) c.944C= (p.Thr315=) c.758C= (p.Thr253=) c.677C= (p.Thr226=) c.383C= (p.Thr128=) c.764C= (p.Thr255=) | |
2 | g.48688778G>T | CA346750150 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1019C>A (p.Thr340Lys) c.948-639C>A (n.948-639C>A) c.3441+17098G>T (n.3441+17098G>T) c.948-195C>A (n.948-195C>A) c.938C>A (p.Thr313Lys) c.276+17098G>T (n.276+17098G>T) c.*220+5446C>A (n.*220+5446C>A) c.62C>A (p.Thr21Lys) c.89C>A (p.Thr30Lys) c.944C>A (p.Thr315Lys) c.758C>A (p.Thr253Lys) c.677C>A (p.Thr226Lys) c.383C>A (p.Thr128Lys) c.764C>A (p.Thr255Lys) | |
2 | g.48688779T>A | CA346750153 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1018A>T (p.Thr340Ser) c.948-640A>T (n.948-640A>T) c.3441+17099T>A (n.3441+17099T>A) c.948-196A>T (n.948-196A>T) c.937A>T (p.Thr313Ser) c.276+17099T>A (n.276+17099T>A) c.*220+5445A>T (n.*220+5445A>T) c.61A>T (p.Thr21Ser) c.88A>T (p.Thr30Ser) c.943A>T (p.Thr315Ser) c.757A>T (p.Thr253Ser) c.676A>T (p.Thr226Ser) c.382A>T (p.Thr128Ser) c.763A>T (p.Thr255Ser) | |
2 | g.48688779T>C | CA46753401 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1018A>G (p.Thr340Ala) c.948-640A>G (n.948-640A>G) c.3441+17099T>C (n.3441+17099T>C) c.948-196A>G (n.948-196A>G) c.937A>G (p.Thr313Ala) c.276+17099T>C (n.276+17099T>C) c.*220+5445A>G (n.*220+5445A>G) c.61A>G (p.Thr21Ala) c.88A>G (p.Thr30Ala) c.943A>G (p.Thr315Ala) c.757A>G (p.Thr253Ala) c.676A>G (p.Thr226Ala) c.382A>G (p.Thr128Ala) c.763A>G (p.Thr255Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688779T>G | CA346750156 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1018A>C (p.Thr340Pro) c.948-640A>C (n.948-640A>C) c.3441+17099T>G (n.3441+17099T>G) c.948-196A>C (n.948-196A>C) c.937A>C (p.Thr313Pro) c.276+17099T>G (n.276+17099T>G) c.*220+5445A>C (n.*220+5445A>C) c.61A>C (p.Thr21Pro) c.88A>C (p.Thr30Pro) c.943A>C (p.Thr315Pro) c.757A>C (p.Thr253Pro) c.676A>C (p.Thr226Pro) c.382A>C (p.Thr128Pro) c.763A>C (p.Thr255Pro) | |
2 | g.48688779T= | CA1248601267 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1018A= (p.Thr340=) c.948-640A= (n.948-640A=) c.3441+17099T= (n.3441+17099T=) c.948-196A= (n.948-196A=) c.937A= (p.Thr313=) c.276+17099T= (n.276+17099T=) c.*220+5445A= (n.*220+5445A=) c.61A= (p.Thr21=) c.88A= (p.Thr30=) c.943A= (p.Thr315=) c.757A= (p.Thr253=) c.676A= (p.Thr226=) c.382A= (p.Thr128=) c.763A= (p.Thr255=) | |
2 | g.48688780C>A | CA346750160 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1017G>T (p.Lys339Asn) c.948-641G>T (n.948-641G>T) c.3441+17100C>A (n.3441+17100C>A) c.948-197G>T (n.948-197G>T) c.936G>T (p.Lys312Asn) c.276+17100C>A (n.276+17100C>A) c.*220+5444G>T (n.*220+5444G>T) c.60G>T (p.Lys20Asn) c.87G>T (p.Lys29Asn) c.942G>T (p.Lys314Asn) c.756G>T (p.Lys252Asn) c.675G>T (p.Lys225Asn) c.381G>T (p.Lys127Asn) c.762G>T (p.Lys254Asn) | |
2 | g.48688780C>G | CA346750158 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1017G>C (p.Lys339Asn) c.948-641G>C (n.948-641G>C) c.3441+17100C>G (n.3441+17100C>G) c.948-197G>C (n.948-197G>C) c.936G>C (p.Lys312Asn) c.276+17100C>G (n.276+17100C>G) c.*220+5444G>C (n.*220+5444G>C) c.60G>C (p.Lys20Asn) c.87G>C (p.Lys29Asn) c.942G>C (p.Lys314Asn) c.756G>C (p.Lys252Asn) c.675G>C (p.Lys225Asn) c.381G>C (p.Lys127Asn) c.762G>C (p.Lys254Asn) | gnomAD v4 COSMIC |
2 | g.48688780C>T | CA426124849 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1017G>A (p.Lys339=) c.948-641G>A (n.948-641G>A) c.3441+17100C>T (n.3441+17100C>T) c.948-197G>A (n.948-197G>A) c.936G>A (p.Lys312=) c.276+17100C>T (n.276+17100C>T) c.*220+5444G>A (n.*220+5444G>A) c.60G>A (p.Lys20=) c.87G>A (p.Lys29=) c.942G>A (p.Lys314=) c.756G>A (p.Lys252=) c.675G>A (p.Lys225=) c.381G>A (p.Lys127=) c.762G>A (p.Lys254=) | |
2 | g.48688781T>A | CA346750163 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1016A>T (p.Lys339Met) c.948-642A>T (n.948-642A>T) c.3441+17101T>A (n.3441+17101T>A) c.948-198A>T (n.948-198A>T) c.935A>T (p.Lys312Met) c.276+17101T>A (n.276+17101T>A) c.*220+5443A>T (n.*220+5443A>T) c.59A>T (p.Lys20Met) c.86A>T (p.Lys29Met) c.941A>T (p.Lys314Met) c.755A>T (p.Lys252Met) c.674A>T (p.Lys225Met) c.380A>T (p.Lys127Met) c.761A>T (p.Lys254Met) | COSMIC |
2 | g.48688781T>C | CA1653095 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1016A>G (p.Lys339Arg) c.948-642A>G (n.948-642A>G) c.3441+17101T>C (n.3441+17101T>C) c.948-198A>G (n.948-198A>G) c.935A>G (p.Lys312Arg) c.276+17101T>C (n.276+17101T>C) c.*220+5443A>G (n.*220+5443A>G) c.59A>G (p.Lys20Arg) c.86A>G (p.Lys29Arg) c.941A>G (p.Lys314Arg) c.755A>G (p.Lys252Arg) c.674A>G (p.Lys225Arg) c.380A>G (p.Lys127Arg) c.761A>G (p.Lys254Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.48688781T>G | CA346750166 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1016A>C (p.Lys339Thr) c.948-642A>C (n.948-642A>C) c.3441+17101T>G (n.3441+17101T>G) c.948-198A>C (n.948-198A>C) c.935A>C (p.Lys312Thr) c.276+17101T>G (n.276+17101T>G) c.*220+5443A>C (n.*220+5443A>C) c.59A>C (p.Lys20Thr) c.86A>C (p.Lys29Thr) c.941A>C (p.Lys314Thr) c.755A>C (p.Lys252Thr) c.674A>C (p.Lys225Thr) c.380A>C (p.Lys127Thr) c.761A>C (p.Lys254Thr) | |
2 | g.48688781T= | CA1248601268 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1016A= (p.Lys339=) c.948-642A= (n.948-642A=) c.3441+17101T= (n.3441+17101T=) c.948-198A= (n.948-198A=) c.935A= (p.Lys312=) c.276+17101T= (n.276+17101T=) c.*220+5443A= (n.*220+5443A=) c.59A= (p.Lys20=) c.86A= (p.Lys29=) c.941A= (p.Lys314=) c.755A= (p.Lys252=) c.674A= (p.Lys225=) c.380A= (p.Lys127=) c.761A= (p.Lys254=) | |
2 | g.48688782T>A | CA346750168 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1015A>T (p.Lys339Ter) c.948-643A>T (n.948-643A>T) c.3441+17102T>A (n.3441+17102T>A) c.948-199A>T (n.948-199A>T) c.934A>T (p.Lys312Ter) c.276+17102T>A (n.276+17102T>A) c.*220+5442A>T (n.*220+5442A>T) c.58A>T (p.Lys20Ter) c.85A>T (p.Lys29Ter) c.940A>T (p.Lys314Ter) c.754A>T (p.Lys252Ter) c.673A>T (p.Lys225Ter) c.379A>T (p.Lys127Ter) c.760A>T (p.Lys254Ter) | |
2 | g.48688782T>C | CA346750170 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1015A>G (p.Lys339Glu) c.948-643A>G (n.948-643A>G) c.3441+17102T>C (n.3441+17102T>C) c.948-199A>G (n.948-199A>G) c.934A>G (p.Lys312Glu) c.276+17102T>C (n.276+17102T>C) c.*220+5442A>G (n.*220+5442A>G) c.58A>G (p.Lys20Glu) c.85A>G (p.Lys29Glu) c.940A>G (p.Lys314Glu) c.754A>G (p.Lys252Glu) c.673A>G (p.Lys225Glu) c.379A>G (p.Lys127Glu) c.760A>G (p.Lys254Glu) | |
2 | g.48688782T>G | CA346750173 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1015A>C (p.Lys339Gln) c.948-643A>C (n.948-643A>C) c.3441+17102T>G (n.3441+17102T>G) c.948-199A>C (n.948-199A>C) c.934A>C (p.Lys312Gln) c.276+17102T>G (n.276+17102T>G) c.*220+5442A>C (n.*220+5442A>C) c.58A>C (p.Lys20Gln) c.85A>C (p.Lys29Gln) c.940A>C (p.Lys314Gln) c.754A>C (p.Lys252Gln) c.673A>C (p.Lys225Gln) c.379A>C (p.Lys127Gln) c.760A>C (p.Lys254Gln) | |
2 | g.48688783G>A | CA426124852 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1014C>T (p.Pro338=) c.948-644C>T (n.948-644C>T) c.3441+17103G>A (n.3441+17103G>A) c.948-200C>T (n.948-200C>T) c.933C>T (p.Pro311=) c.276+17103G>A (n.276+17103G>A) c.*220+5441C>T (n.*220+5441C>T) c.57C>T (p.Pro19=) c.84C>T (p.Pro28=) c.939C>T (p.Pro313=) c.753C>T (p.Pro251=) c.672C>T (p.Pro224=) c.378C>T (p.Pro126=) c.759C>T (p.Pro253=) | |
2 | g.48688783G>C | CA426124850 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1014C>G (p.Pro338=) c.948-644C>G (n.948-644C>G) c.3441+17103G>C (n.3441+17103G>C) c.948-200C>G (n.948-200C>G) c.933C>G (p.Pro311=) c.276+17103G>C (n.276+17103G>C) c.*220+5441C>G (n.*220+5441C>G) c.57C>G (p.Pro19=) c.84C>G (p.Pro28=) c.939C>G (p.Pro313=) c.753C>G (p.Pro251=) c.672C>G (p.Pro224=) c.378C>G (p.Pro126=) c.759C>G (p.Pro253=) | |
2 | g.48688783G>T | CA426124851 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1014C>A (p.Pro338=) c.948-644C>A (n.948-644C>A) c.3441+17103G>T (n.3441+17103G>T) c.948-200C>A (n.948-200C>A) c.933C>A (p.Pro311=) c.276+17103G>T (n.276+17103G>T) c.*220+5441C>A (n.*220+5441C>A) c.57C>A (p.Pro19=) c.84C>A (p.Pro28=) c.939C>A (p.Pro313=) c.753C>A (p.Pro251=) c.672C>A (p.Pro224=) c.378C>A (p.Pro126=) c.759C>A (p.Pro253=) | |
2 | g.48688785del | CA2658992091 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1014del (p.Lys339ArgfsTer27) c.948-644del (n.948-644del) c.3441+17105del (n.3441+17105del) c.948-200del (n.948-200del) c.933del (p.Lys312ArgfsTer27) c.276+17105del (n.276+17105del) c.*220+5441del (n.*220+5441del) c.57del (p.Lys20ArgfsTer27) c.84del (p.Lys29ArgfsTer27) c.939del (p.Lys314ArgfsTer27) c.753del (p.Lys252ArgfsTer27) c.672del (p.Lys225ArgfsTer27) c.378del (p.Lys127ArgfsTer27) c.759del (p.Lys254ArgfsTer27) | gnomAD v4 |
2 | g.48688784G>A | CA346750177 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1013C>T (p.Pro338Leu) c.948-645C>T (n.948-645C>T) c.3441+17104G>A (n.3441+17104G>A) c.948-201C>T (n.948-201C>T) c.932C>T (p.Pro311Leu) c.276+17104G>A (n.276+17104G>A) c.*220+5440C>T (n.*220+5440C>T) c.56C>T (p.Pro19Leu) c.83C>T (p.Pro28Leu) c.938C>T (p.Pro313Leu) c.752C>T (p.Pro251Leu) c.671C>T (p.Pro224Leu) c.377C>T (p.Pro126Leu) c.758C>T (p.Pro253Leu) | |
2 | g.48688784G>C | CA346750180 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1013C>G (p.Pro338Arg) c.948-645C>G (n.948-645C>G) c.3441+17104G>C (n.3441+17104G>C) c.948-201C>G (n.948-201C>G) c.932C>G (p.Pro311Arg) c.276+17104G>C (n.276+17104G>C) c.*220+5440C>G (n.*220+5440C>G) c.56C>G (p.Pro19Arg) c.83C>G (p.Pro28Arg) c.938C>G (p.Pro313Arg) c.752C>G (p.Pro251Arg) c.671C>G (p.Pro224Arg) c.377C>G (p.Pro126Arg) c.758C>G (p.Pro253Arg) | |
2 | g.48688784G>T | CA346750179 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1013C>A (p.Pro338His) c.948-645C>A (n.948-645C>A) c.3441+17104G>T (n.3441+17104G>T) c.948-201C>A (n.948-201C>A) c.932C>A (p.Pro311His) c.276+17104G>T (n.276+17104G>T) c.*220+5440C>A (n.*220+5440C>A) c.56C>A (p.Pro19His) c.83C>A (p.Pro28His) c.938C>A (p.Pro313His) c.752C>A (p.Pro251His) c.671C>A (p.Pro224His) c.377C>A (p.Pro126His) c.758C>A (p.Pro253His) | |
2 | g.48688785G>A | CA346750183 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1012C>T (p.Pro338Ser) c.948-646C>T (n.948-646C>T) c.3441+17105G>A (n.3441+17105G>A) c.948-202C>T (n.948-202C>T) c.931C>T (p.Pro311Ser) c.276+17105G>A (n.276+17105G>A) c.*220+5439C>T (n.*220+5439C>T) c.55C>T (p.Pro19Ser) c.82C>T (p.Pro28Ser) c.937C>T (p.Pro313Ser) c.751C>T (p.Pro251Ser) c.670C>T (p.Pro224Ser) c.376C>T (p.Pro126Ser) c.757C>T (p.Pro253Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.48688785G>C | CA346750186 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1012C>G (p.Pro338Ala) c.948-646C>G (n.948-646C>G) c.3441+17105G>C (n.3441+17105G>C) c.948-202C>G (n.948-202C>G) c.931C>G (p.Pro311Ala) c.276+17105G>C (n.276+17105G>C) c.*220+5439C>G (n.*220+5439C>G) c.55C>G (p.Pro19Ala) c.82C>G (p.Pro28Ala) c.937C>G (p.Pro313Ala) c.751C>G (p.Pro251Ala) c.670C>G (p.Pro224Ala) c.376C>G (p.Pro126Ala) c.757C>G (p.Pro253Ala) | |
2 | g.48688785G= | CA1248601269 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1012C= (p.Pro338=) c.948-646C= (n.948-646C=) c.3441+17105G= (n.3441+17105G=) c.948-202C= (n.948-202C=) c.931C= (p.Pro311=) c.276+17105G= (n.276+17105G=) c.*220+5439C= (n.*220+5439C=) c.55C= (p.Pro19=) c.82C= (p.Pro28=) c.937C= (p.Pro313=) c.751C= (p.Pro251=) c.670C= (p.Pro224=) c.376C= (p.Pro126=) c.757C= (p.Pro253=) | |
2 | g.48688785G>T | CA346750188 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1012C>A (p.Pro338Thr) c.948-646C>A (n.948-646C>A) c.3441+17105G>T (n.3441+17105G>T) c.948-202C>A (n.948-202C>A) c.931C>A (p.Pro311Thr) c.276+17105G>T (n.276+17105G>T) c.*220+5439C>A (n.*220+5439C>A) c.55C>A (p.Pro19Thr) c.82C>A (p.Pro28Thr) c.937C>A (p.Pro313Thr) c.751C>A (p.Pro251Thr) c.670C>A (p.Pro224Thr) c.376C>A (p.Pro126Thr) c.757C>A (p.Pro253Thr) | gnomAD v4 |
2 | g.48688786T>A | CA346750191 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1011A>T (p.Leu337Phe) c.948-647A>T (n.948-647A>T) c.3441+17106T>A (n.3441+17106T>A) c.948-203A>T (n.948-203A>T) c.930A>T (p.Leu310Phe) c.276+17106T>A (n.276+17106T>A) c.*220+5438A>T (n.*220+5438A>T) c.54A>T (p.Leu18Phe) c.81A>T (p.Leu27Phe) c.936A>T (p.Leu312Phe) c.750A>T (p.Leu250Phe) c.669A>T (p.Leu223Phe) c.375A>T (p.Leu125Phe) c.756A>T (p.Leu252Phe) | |
2 | g.48688786T>C | CA426124853 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1011A>G (p.Leu337=) c.948-647A>G (n.948-647A>G) c.3441+17106T>C (n.3441+17106T>C) c.948-203A>G (n.948-203A>G) c.930A>G (p.Leu310=) c.276+17106T>C (n.276+17106T>C) c.*220+5438A>G (n.*220+5438A>G) c.54A>G (p.Leu18=) c.81A>G (p.Leu27=) c.936A>G (p.Leu312=) c.750A>G (p.Leu250=) c.669A>G (p.Leu223=) c.375A>G (p.Leu125=) c.756A>G (p.Leu252=) | |
2 | g.48688786T>G | CA346750192 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1011A>C (p.Leu337Phe) c.948-647A>C (n.948-647A>C) c.3441+17106T>G (n.3441+17106T>G) c.948-203A>C (n.948-203A>C) c.930A>C (p.Leu310Phe) c.276+17106T>G (n.276+17106T>G) c.*220+5438A>C (n.*220+5438A>C) c.54A>C (p.Leu18Phe) c.81A>C (p.Leu27Phe) c.936A>C (p.Leu312Phe) c.750A>C (p.Leu250Phe) c.669A>C (p.Leu223Phe) c.375A>C (p.Leu125Phe) c.756A>C (p.Leu252Phe) | |
2 | g.48688787A= | CA1248601270 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1010T= (p.Leu337=) c.948-648T= (n.948-648T=) c.3441+17107A= (n.3441+17107A=) c.948-204T= (n.948-204T=) c.929T= (p.Leu310=) c.276+17107A= (n.276+17107A=) c.*220+5437T= (n.*220+5437T=) c.53T= (p.Leu18=) c.80T= (p.Leu27=) c.935T= (p.Leu312=) c.749T= (p.Leu250=) c.668T= (p.Leu223=) c.374T= (p.Leu125=) c.755T= (p.Leu252=) | |
2 | g.48688787A>C | CA346750195 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1010T>G (p.Leu337Ter) c.948-648T>G (n.948-648T>G) c.3441+17107A>C (n.3441+17107A>C) c.948-204T>G (n.948-204T>G) c.929T>G (p.Leu310Ter) c.276+17107A>C (n.276+17107A>C) c.*220+5437T>G (n.*220+5437T>G) c.53T>G (p.Leu18Ter) c.80T>G (p.Leu27Ter) c.935T>G (p.Leu312Ter) c.749T>G (p.Leu250Ter) c.668T>G (p.Leu223Ter) c.374T>G (p.Leu125Ter) c.755T>G (p.Leu252Ter) | |
2 | g.48688787A>G | CA1653096 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1010T>C (p.Leu337Ser) c.948-648T>C (n.948-648T>C) c.3441+17107A>G (n.3441+17107A>G) c.948-204T>C (n.948-204T>C) c.929T>C (p.Leu310Ser) c.276+17107A>G (n.276+17107A>G) c.*220+5437T>C (n.*220+5437T>C) c.53T>C (p.Leu18Ser) c.80T>C (p.Leu27Ser) c.935T>C (p.Leu312Ser) c.749T>C (p.Leu250Ser) c.668T>C (p.Leu223Ser) c.374T>C (p.Leu125Ser) c.755T>C (p.Leu252Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688787A>T | CA346750199 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1010T>A (p.Leu337Ter) c.948-648T>A (n.948-648T>A) c.3441+17107A>T (n.3441+17107A>T) c.948-204T>A (n.948-204T>A) c.929T>A (p.Leu310Ter) c.276+17107A>T (n.276+17107A>T) c.*220+5437T>A (n.*220+5437T>A) c.53T>A (p.Leu18Ter) c.80T>A (p.Leu27Ter) c.935T>A (p.Leu312Ter) c.749T>A (p.Leu250Ter) c.668T>A (p.Leu223Ter) c.374T>A (p.Leu125Ter) c.755T>A (p.Leu252Ter) | |
2 | g.48688788A>C | CA346750201 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1009T>G (p.Leu337Val) c.948-649T>G (n.948-649T>G) c.3441+17108A>C (n.3441+17108A>C) c.948-205T>G (n.948-205T>G) c.928T>G (p.Leu310Val) c.276+17108A>C (n.276+17108A>C) c.*220+5436T>G (n.*220+5436T>G) c.52T>G (p.Leu18Val) c.79T>G (p.Leu27Val) c.934T>G (p.Leu312Val) c.748T>G (p.Leu250Val) c.667T>G (p.Leu223Val) c.373T>G (p.Leu125Val) c.754T>G (p.Leu252Val) | |
2 | g.48688788A>G | CA426124854 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1009T>C (p.Leu337=) c.948-649T>C (n.948-649T>C) c.3441+17108A>G (n.3441+17108A>G) c.948-205T>C (n.948-205T>C) c.928T>C (p.Leu310=) c.276+17108A>G (n.276+17108A>G) c.*220+5436T>C (n.*220+5436T>C) c.52T>C (p.Leu18=) c.79T>C (p.Leu27=) c.934T>C (p.Leu312=) c.748T>C (p.Leu250=) c.667T>C (p.Leu223=) c.373T>C (p.Leu125=) c.754T>C (p.Leu252=) | COSMIC |
2 | g.48688788A>T | CA346750204 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1009T>A (p.Leu337Ile) c.948-649T>A (n.948-649T>A) c.3441+17108A>T (n.3441+17108A>T) c.948-205T>A (n.948-205T>A) c.928T>A (p.Leu310Ile) c.276+17108A>T (n.276+17108A>T) c.*220+5436T>A (n.*220+5436T>A) c.52T>A (p.Leu18Ile) c.79T>A (p.Leu27Ile) c.934T>A (p.Leu312Ile) c.748T>A (p.Leu250Ile) c.667T>A (p.Leu223Ile) c.373T>A (p.Leu125Ile) c.754T>A (p.Leu252Ile) | |
2 | g.48688789G>A | CA46753416 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1008C>T (p.Cys336=) c.948-650C>T (n.948-650C>T) c.3441+17109G>A (n.3441+17109G>A) c.948-206C>T (n.948-206C>T) c.927C>T (p.Cys309=) c.276+17109G>A (n.276+17109G>A) c.*220+5435C>T (n.*220+5435C>T) c.51C>T (p.Cys17=) c.78C>T (p.Cys26=) c.933C>T (p.Cys311=) c.747C>T (p.Cys249=) c.666C>T (p.Cys222=) c.372C>T (p.Cys124=) c.753C>T (p.Cys251=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.48688789G>C | CA346750211 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1008C>G (p.Cys336Trp) c.948-650C>G (n.948-650C>G) c.3441+17109G>C (n.3441+17109G>C) c.948-206C>G (n.948-206C>G) c.927C>G (p.Cys309Trp) c.276+17109G>C (n.276+17109G>C) c.*220+5435C>G (n.*220+5435C>G) c.51C>G (p.Cys17Trp) c.78C>G (p.Cys26Trp) c.933C>G (p.Cys311Trp) c.747C>G (p.Cys249Trp) c.666C>G (p.Cys222Trp) c.372C>G (p.Cys124Trp) c.753C>G (p.Cys251Trp) | |
2 | g.48688789G= | CA1248601271 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1008C= (p.Cys336=) c.948-650C= (n.948-650C=) c.3441+17109G= (n.3441+17109G=) c.948-206C= (n.948-206C=) c.927C= (p.Cys309=) c.276+17109G= (n.276+17109G=) c.*220+5435C= (n.*220+5435C=) c.51C= (p.Cys17=) c.78C= (p.Cys26=) c.933C= (p.Cys311=) c.747C= (p.Cys249=) c.666C= (p.Cys222=) c.372C= (p.Cys124=) c.753C= (p.Cys251=) | |
2 | g.48688789G>T | CA346750208 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1008C>A (p.Cys336Ter) c.948-650C>A (n.948-650C>A) c.3441+17109G>T (n.3441+17109G>T) c.948-206C>A (n.948-206C>A) c.927C>A (p.Cys309Ter) c.276+17109G>T (n.276+17109G>T) c.*220+5435C>A (n.*220+5435C>A) c.51C>A (p.Cys17Ter) c.78C>A (p.Cys26Ter) c.933C>A (p.Cys311Ter) c.747C>A (p.Cys249Ter) c.666C>A (p.Cys222Ter) c.372C>A (p.Cys124Ter) c.753C>A (p.Cys251Ter) | |
2 | g.48688790C>A | CA346750214 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1007G>T (p.Cys336Phe) c.948-651G>T (n.948-651G>T) c.3441+17110C>A (n.3441+17110C>A) c.948-207G>T (n.948-207G>T) c.926G>T (p.Cys309Phe) c.276+17110C>A (n.276+17110C>A) c.*220+5434G>T (n.*220+5434G>T) c.50G>T (p.Cys17Phe) c.77G>T (p.Cys26Phe) c.932G>T (p.Cys311Phe) c.746G>T (p.Cys249Phe) c.665G>T (p.Cys222Phe) c.371G>T (p.Cys124Phe) c.752G>T (p.Cys251Phe) | |
2 | g.48688790C>G | CA346750218 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1007G>C (p.Cys336Ser) c.948-651G>C (n.948-651G>C) c.3441+17110C>G (n.3441+17110C>G) c.948-207G>C (n.948-207G>C) c.926G>C (p.Cys309Ser) c.276+17110C>G (n.276+17110C>G) c.*220+5434G>C (n.*220+5434G>C) c.50G>C (p.Cys17Ser) c.77G>C (p.Cys26Ser) c.932G>C (p.Cys311Ser) c.746G>C (p.Cys249Ser) c.665G>C (p.Cys222Ser) c.371G>C (p.Cys124Ser) c.752G>C (p.Cys251Ser) | |
2 | g.48688790C>T | CA346750216 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1007G>A (p.Cys336Tyr) c.948-651G>A (n.948-651G>A) c.3441+17110C>T (n.3441+17110C>T) c.948-207G>A (n.948-207G>A) c.926G>A (p.Cys309Tyr) c.276+17110C>T (n.276+17110C>T) c.*220+5434G>A (n.*220+5434G>A) c.50G>A (p.Cys17Tyr) c.77G>A (p.Cys26Tyr) c.932G>A (p.Cys311Tyr) c.746G>A (p.Cys249Tyr) c.665G>A (p.Cys222Tyr) c.371G>A (p.Cys124Tyr) c.752G>A (p.Cys251Tyr) | gnomAD v4 |
2 | g.48688791A>C | CA346750221 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1006T>G (p.Cys336Gly) c.948-652T>G (n.948-652T>G) c.3441+17111A>C (n.3441+17111A>C) c.948-208T>G (n.948-208T>G) c.925T>G (p.Cys309Gly) c.276+17111A>C (n.276+17111A>C) c.*220+5433T>G (n.*220+5433T>G) c.49T>G (p.Cys17Gly) c.76T>G (p.Cys26Gly) c.931T>G (p.Cys311Gly) c.745T>G (p.Cys249Gly) c.664T>G (p.Cys222Gly) c.370T>G (p.Cys124Gly) c.751T>G (p.Cys251Gly) | |
2 | g.48688791A>G | CA346750223 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1006T>C (p.Cys336Arg) c.948-652T>C (n.948-652T>C) c.3441+17111A>G (n.3441+17111A>G) c.948-208T>C (n.948-208T>C) c.925T>C (p.Cys309Arg) c.276+17111A>G (n.276+17111A>G) c.*220+5433T>C (n.*220+5433T>C) c.49T>C (p.Cys17Arg) c.76T>C (p.Cys26Arg) c.931T>C (p.Cys311Arg) c.745T>C (p.Cys249Arg) c.664T>C (p.Cys222Arg) c.370T>C (p.Cys124Arg) c.751T>C (p.Cys251Arg) | |
2 | g.48688791A>T | CA346750225 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1006T>A (p.Cys336Ser) c.948-652T>A (n.948-652T>A) c.3441+17111A>T (n.3441+17111A>T) c.948-208T>A (n.948-208T>A) c.925T>A (p.Cys309Ser) c.276+17111A>T (n.276+17111A>T) c.*220+5433T>A (n.*220+5433T>A) c.49T>A (p.Cys17Ser) c.76T>A (p.Cys26Ser) c.931T>A (p.Cys311Ser) c.745T>A (p.Cys249Ser) c.664T>A (p.Cys222Ser) c.370T>A (p.Cys124Ser) c.751T>A (p.Cys251Ser) | |
2 | g.48688792G>A | CA426124855 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1005C>T (p.Phe335=) c.948-653C>T (n.948-653C>T) c.3441+17112G>A (n.3441+17112G>A) c.948-209C>T (n.948-209C>T) c.924C>T (p.Phe308=) c.276+17112G>A (n.276+17112G>A) c.*220+5432C>T (n.*220+5432C>T) c.48C>T (p.Phe16=) c.75C>T (p.Phe25=) c.930C>T (p.Phe310=) c.744C>T (p.Phe248=) c.663C>T (p.Phe221=) c.369C>T (p.Phe123=) c.750C>T (p.Phe250=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.48688792G>C | CA346750228 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1005C>G (p.Phe335Leu) c.948-653C>G (n.948-653C>G) c.3441+17112G>C (n.3441+17112G>C) c.948-209C>G (n.948-209C>G) c.924C>G (p.Phe308Leu) c.276+17112G>C (n.276+17112G>C) c.*220+5432C>G (n.*220+5432C>G) c.48C>G (p.Phe16Leu) c.75C>G (p.Phe25Leu) c.930C>G (p.Phe310Leu) c.744C>G (p.Phe248Leu) c.663C>G (p.Phe221Leu) c.369C>G (p.Phe123Leu) c.750C>G (p.Phe250Leu) | |
2 | g.48688792G= | CA1248601272 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1005C= (p.Phe335=) c.948-653C= (n.948-653C=) c.3441+17112G= (n.3441+17112G=) c.948-209C= (n.948-209C=) c.924C= (p.Phe308=) c.276+17112G= (n.276+17112G=) c.*220+5432C= (n.*220+5432C=) c.48C= (p.Phe16=) c.75C= (p.Phe25=) c.930C= (p.Phe310=) c.744C= (p.Phe248=) c.663C= (p.Phe221=) c.369C= (p.Phe123=) c.750C= (p.Phe250=) | |
2 | g.48688792G>T | CA346750230 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1005C>A (p.Phe335Leu) c.948-653C>A (n.948-653C>A) c.3441+17112G>T (n.3441+17112G>T) c.948-209C>A (n.948-209C>A) c.924C>A (p.Phe308Leu) c.276+17112G>T (n.276+17112G>T) c.*220+5432C>A (n.*220+5432C>A) c.48C>A (p.Phe16Leu) c.75C>A (p.Phe25Leu) c.930C>A (p.Phe310Leu) c.744C>A (p.Phe248Leu) c.663C>A (p.Phe221Leu) c.369C>A (p.Phe123Leu) c.750C>A (p.Phe250Leu) | COSMIC |
2 | g.48688793A>C | CA346750233 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1004T>G (p.Phe335Cys) c.948-654T>G (n.948-654T>G) c.3441+17113A>C (n.3441+17113A>C) c.948-210T>G (n.948-210T>G) c.923T>G (p.Phe308Cys) c.276+17113A>C (n.276+17113A>C) c.*220+5431T>G (n.*220+5431T>G) c.47T>G (p.Phe16Cys) c.74T>G (p.Phe25Cys) c.929T>G (p.Phe310Cys) c.743T>G (p.Phe248Cys) c.662T>G (p.Phe221Cys) c.368T>G (p.Phe123Cys) c.749T>G (p.Phe250Cys) | |
2 | g.48688793A>G | CA346750236 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1004T>C (p.Phe335Ser) c.948-654T>C (n.948-654T>C) c.3441+17113A>G (n.3441+17113A>G) c.948-210T>C (n.948-210T>C) c.923T>C (p.Phe308Ser) c.276+17113A>G (n.276+17113A>G) c.*220+5431T>C (n.*220+5431T>C) c.47T>C (p.Phe16Ser) c.74T>C (p.Phe25Ser) c.929T>C (p.Phe310Ser) c.743T>C (p.Phe248Ser) c.662T>C (p.Phe221Ser) c.368T>C (p.Phe123Ser) c.749T>C (p.Phe250Ser) | gnomAD v4 |
2 | g.48688793A>T | CA346750238 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1004T>A (p.Phe335Tyr) c.948-654T>A (n.948-654T>A) c.3441+17113A>T (n.3441+17113A>T) c.948-210T>A (n.948-210T>A) c.923T>A (p.Phe308Tyr) c.276+17113A>T (n.276+17113A>T) c.*220+5431T>A (n.*220+5431T>A) c.47T>A (p.Phe16Tyr) c.74T>A (p.Phe25Tyr) c.929T>A (p.Phe310Tyr) c.743T>A (p.Phe248Tyr) c.662T>A (p.Phe221Tyr) c.368T>A (p.Phe123Tyr) c.749T>A (p.Phe250Tyr) | |
2 | g.48688794A>C | CA346750239 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1003T>G (p.Phe335Val) c.948-655T>G (n.948-655T>G) c.3441+17114A>C (n.3441+17114A>C) c.948-211T>G (n.948-211T>G) c.922T>G (p.Phe308Val) c.276+17114A>C (n.276+17114A>C) c.*220+5430T>G (n.*220+5430T>G) c.46T>G (p.Phe16Val) c.73T>G (p.Phe25Val) c.928T>G (p.Phe310Val) c.742T>G (p.Phe248Val) c.661T>G (p.Phe221Val) c.367T>G (p.Phe123Val) c.748T>G (p.Phe250Val) | |
2 | g.48688794A>G | CA346750241 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1003T>C (p.Phe335Leu) c.948-655T>C (n.948-655T>C) c.3441+17114A>G (n.3441+17114A>G) c.948-211T>C (n.948-211T>C) c.922T>C (p.Phe308Leu) c.276+17114A>G (n.276+17114A>G) c.*220+5430T>C (n.*220+5430T>C) c.46T>C (p.Phe16Leu) c.73T>C (p.Phe25Leu) c.928T>C (p.Phe310Leu) c.742T>C (p.Phe248Leu) c.661T>C (p.Phe221Leu) c.367T>C (p.Phe123Leu) c.748T>C (p.Phe250Leu) | |
2 | g.48688794A>T | CA346750242 | GTF2A1L,LHCGR,STON1-GTF2A1L | c.1003T>A (p.Phe335Ile) c.948-655T>A (n.948-655T>A) c.3441+17114A>T (n.3441+17114A>T) c.948-211T>A (n.948-211T>A) c.922T>A (p.Phe308Ile) c.276+17114A>T (n.276+17114A>T) c.*220+5430T>A (n.*220+5430T>A) c.46T>A (p.Phe16Ile) c.73T>A (p.Phe25Ile) c.928T>A (p.Phe310Ile) c.742T>A (p.Phe248Ile) c.661T>A (p.Phe221Ile) c.367T>A (p.Phe123Ile) c.748T>A (p.Phe250Ile) |