WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.72169914C>A | CA393055933 | GRAMD2A | c.67G>T (p.Ala23Ser) c.31G>T (p.Ala11Ser) n.222G>T c.37G>T (p.Ala13Ser) c.46G>T (p.Ala16Ser) c.64G>T (p.Ala22Ser) c.61G>T (p.Ala21Ser) c.-189G>T (n.-189G>T) c.-173G>T (n.-173G>T) c.16G>T (p.Ala6Ser) | gnomAD v4 |
| 15 | g.72169914C= | CA2186665680 | GRAMD2A | c.67G= (p.Ala23=) c.31G= (p.Ala11=) n.222G= c.37G= (p.Ala13=) c.46G= (p.Ala16=) c.64G= (p.Ala22=) c.61G= (p.Ala21=) c.-189G= (n.-189G=) c.-173G= (n.-173G=) c.16G= (p.Ala6=) | |
| 15 | g.72169914C>G | CA393055934 | GRAMD2A | c.67G>C (p.Ala23Pro) c.31G>C (p.Ala11Pro) n.222G>C c.37G>C (p.Ala13Pro) c.46G>C (p.Ala16Pro) c.64G>C (p.Ala22Pro) c.61G>C (p.Ala21Pro) c.-189G>C (n.-189G>C) c.-173G>C (n.-173G>C) c.16G>C (p.Ala6Pro) | |
| 15 | g.72169914C>T | CA7643004 | GRAMD2A | c.67G>A (p.Ala23Thr) c.31G>A (p.Ala11Thr) n.222G>A c.37G>A (p.Ala13Thr) c.46G>A (p.Ala16Thr) c.64G>A (p.Ala22Thr) c.61G>A (p.Ala21Thr) c.-189G>A (n.-189G>A) c.-173G>A (n.-173G>A) c.16G>A (p.Ala6Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.72169915T>A | CA491132869 | GRAMD2A | c.66A>T (p.Thr22=) c.30A>T (p.Thr10=) n.221A>T c.36A>T (p.Thr12=) c.45A>T (p.Thr15=) c.63A>T (p.Thr21=) c.60A>T (p.Thr20=) c.-190A>T (n.-190A>T) c.-174A>T (n.-174A>T) c.15A>T (p.Thr5=) | |
| 15 | g.72169915T>C | CA491132872 | GRAMD2A | c.66A>G (p.Thr22=) c.30A>G (p.Thr10=) n.221A>G c.36A>G (p.Thr12=) c.45A>G (p.Thr15=) c.63A>G (p.Thr21=) c.60A>G (p.Thr20=) c.-190A>G (n.-190A>G) c.-174A>G (n.-174A>G) c.15A>G (p.Thr5=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.72169915T>G | CA491132870 | GRAMD2A | c.66A>C (p.Thr22=) c.30A>C (p.Thr10=) n.221A>C c.36A>C (p.Thr12=) c.45A>C (p.Thr15=) c.63A>C (p.Thr21=) c.60A>C (p.Thr20=) c.-190A>C (n.-190A>C) c.-174A>C (n.-174A>C) c.15A>C (p.Thr5=) | |
| 15 | g.72169915T= | CA2186665681 | GRAMD2A | c.66A= (p.Thr22=) c.30A= (p.Thr10=) n.221A= c.36A= (p.Thr12=) c.45A= (p.Thr15=) c.63A= (p.Thr21=) c.60A= (p.Thr20=) c.-190A= (n.-190A=) c.-174A= (n.-174A=) c.15A= (p.Thr5=) | |
| 15 | g.72169916G>A | CA393055938 | GRAMD2A | c.65C>T (p.Thr22Ile) c.29C>T (p.Thr10Ile) n.220C>T c.35C>T (p.Thr12Ile) c.44C>T (p.Thr15Ile) c.62C>T (p.Thr21Ile) c.59C>T (p.Thr20Ile) c.-191C>T (n.-191C>T) c.-175C>T (n.-175C>T) c.14C>T (p.Thr5Ile) | |
| 15 | g.72169916G>C | CA393055940 | GRAMD2A | c.65C>G (p.Thr22Arg) c.29C>G (p.Thr10Arg) n.220C>G c.35C>G (p.Thr12Arg) c.44C>G (p.Thr15Arg) c.62C>G (p.Thr21Arg) c.59C>G (p.Thr20Arg) c.-191C>G (n.-191C>G) c.-175C>G (n.-175C>G) c.14C>G (p.Thr5Arg) | |
| 15 | g.72169916G>T | CA393055943 | GRAMD2A | c.65C>A (p.Thr22Lys) c.29C>A (p.Thr10Lys) n.220C>A c.35C>A (p.Thr12Lys) c.44C>A (p.Thr15Lys) c.62C>A (p.Thr21Lys) c.59C>A (p.Thr20Lys) c.-191C>A (n.-191C>A) c.-175C>A (n.-175C>A) c.14C>A (p.Thr5Lys) | gnomAD v4 |
| 15 | g.72169917T>A | CA393055946 | GRAMD2A | c.64A>T (p.Thr22Ser) c.28A>T (p.Thr10Ser) n.219A>T c.34A>T (p.Thr12Ser) c.43A>T (p.Thr15Ser) c.61A>T (p.Thr21Ser) c.58A>T (p.Thr20Ser) c.-192A>T (n.-192A>T) c.-176A>T (n.-176A>T) c.13A>T (p.Thr5Ser) | |
| 15 | g.72169917T>C | CA393055953 | GRAMD2A | c.64A>G (p.Thr22Ala) c.28A>G (p.Thr10Ala) n.219A>G c.34A>G (p.Thr12Ala) c.43A>G (p.Thr15Ala) c.61A>G (p.Thr21Ala) c.58A>G (p.Thr20Ala) c.-192A>G (n.-192A>G) c.-176A>G (n.-176A>G) c.13A>G (p.Thr5Ala) | |
| 15 | g.72169917T>G | CA393055949 | GRAMD2A | c.64A>C (p.Thr22Pro) c.28A>C (p.Thr10Pro) n.219A>C c.34A>C (p.Thr12Pro) c.43A>C (p.Thr15Pro) c.61A>C (p.Thr21Pro) c.58A>C (p.Thr20Pro) c.-192A>C (n.-192A>C) c.-176A>C (n.-176A>C) c.13A>C (p.Thr5Pro) | |
| 15 | g.72169918C>A | CA393055957 | GRAMD2A | c.63G>T (p.Lys21Asn) c.27G>T (p.Lys9Asn) n.218G>T c.33G>T (p.Lys11Asn) c.42G>T (p.Lys14Asn) c.60G>T (p.Lys20Asn) c.57G>T (p.Lys19Asn) c.-193G>T (n.-193G>T) c.-177G>T (n.-177G>T) c.12G>T (p.Lys4Asn) | |
| 15 | g.72169918C>G | CA393055958 | GRAMD2A | c.63G>C (p.Lys21Asn) c.27G>C (p.Lys9Asn) n.218G>C c.33G>C (p.Lys11Asn) c.42G>C (p.Lys14Asn) c.60G>C (p.Lys20Asn) c.57G>C (p.Lys19Asn) c.-193G>C (n.-193G>C) c.-177G>C (n.-177G>C) c.12G>C (p.Lys4Asn) | |
| 15 | g.72169918C>T | CA491132874 | GRAMD2A | c.63G>A (p.Lys21=) c.27G>A (p.Lys9=) n.218G>A c.33G>A (p.Lys11=) c.42G>A (p.Lys14=) c.60G>A (p.Lys20=) c.57G>A (p.Lys19=) c.-193G>A (n.-193G>A) c.-177G>A (n.-177G>A) c.12G>A (p.Lys4=) | |
| 15 | g.72169919T>A | CA393055959 | GRAMD2A | c.62A>T (p.Lys21Met) c.26A>T (p.Lys9Met) n.217A>T c.32A>T (p.Lys11Met) c.41A>T (p.Lys14Met) c.59A>T (p.Lys20Met) c.56A>T (p.Lys19Met) c.-194A>T (n.-194A>T) c.-178A>T (n.-178A>T) c.11A>T (p.Lys4Met) | |
| 15 | g.72169919T>C | CA393055960 | GRAMD2A | c.62A>G (p.Lys21Arg) c.26A>G (p.Lys9Arg) n.217A>G c.32A>G (p.Lys11Arg) c.41A>G (p.Lys14Arg) c.59A>G (p.Lys20Arg) c.56A>G (p.Lys19Arg) c.-194A>G (n.-194A>G) c.-178A>G (n.-178A>G) c.11A>G (p.Lys4Arg) | |
| 15 | g.72169919T>G | CA393055963 | GRAMD2A | c.62A>C (p.Lys21Thr) c.26A>C (p.Lys9Thr) n.217A>C c.32A>C (p.Lys11Thr) c.41A>C (p.Lys14Thr) c.59A>C (p.Lys20Thr) c.56A>C (p.Lys19Thr) c.-194A>C (n.-194A>C) c.-178A>C (n.-178A>C) c.11A>C (p.Lys4Thr) | |
| 15 | g.72169919_72169920insCTCCCAGACAACATCCCTTGTATCCCTCCATCATCCGTGGACTCCACAGACAGTTTCTTCCCCTCCAGGAAGCCTCCAATGTCTGGTAAGTTCGGGAGGGC | CA2629318418 | GRAMD2A | c.61_62insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG (p.Lys21SerfsTer24) c.25_26insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG (p.Lys9SerfsTer24) n.216_217insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG c.31_32insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG (p.Lys11SerfsTer24) c.40_41insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG (p.Lys14SerfsTer24) c.58_59insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG (p.Lys20SerfsTer24) c.55_56insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG (p.Lys19SerfsTer24) c.-195_-194insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG (n.-195_-194insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG) c.-179_-178insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG (n.-179_-178insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG) c.10_11insGCCCTCCCGAACTTACCAGACATTGGAGGCTTCCTGGAGGGGAAGAAACTGTCTGTGGAGTCCACGGATGATGGAGGGATACAAGGGATGTTGTCTGGGAG (p.Lys4SerfsTer24) | gnomAD v4 |
| 15 | g.72169920T>A | CA393055964 | GRAMD2A | c.61A>T (p.Lys21Ter) c.25A>T (p.Lys9Ter) n.216A>T c.31A>T (p.Lys11Ter) c.40A>T (p.Lys14Ter) c.58A>T (p.Lys20Ter) c.55A>T (p.Lys19Ter) c.-195A>T (n.-195A>T) c.-179A>T (n.-179A>T) c.10A>T (p.Lys4Ter) | |
| 15 | g.72169920T>C | CA393055966 | GRAMD2A | c.61A>G (p.Lys21Glu) c.25A>G (p.Lys9Glu) n.216A>G c.31A>G (p.Lys11Glu) c.40A>G (p.Lys14Glu) c.58A>G (p.Lys20Glu) c.55A>G (p.Lys19Glu) c.-195A>G (n.-195A>G) c.-179A>G (n.-179A>G) c.10A>G (p.Lys4Glu) | gnomAD v4 |
| 15 | g.72169920T>G | CA393055968 | GRAMD2A | c.61A>C (p.Lys21Gln) c.25A>C (p.Lys9Gln) n.216A>C c.31A>C (p.Lys11Gln) c.40A>C (p.Lys14Gln) c.58A>C (p.Lys20Gln) c.55A>C (p.Lys19Gln) c.-195A>C (n.-195A>C) c.-179A>C (n.-179A>C) c.10A>C (p.Lys4Gln) | |
| 15 | g.72169920_72169922delinsTTC | CA2186665682 | GRAMD2A | c.59_61delinsGAA (p.Arg20=) c.23_25delinsGAA (p.Arg8=) n.214_216delinsGAA c.29_31delinsGAA (p.Arg10=) c.38_40delinsGAA (p.Arg13=) c.56_58delinsGAA (p.Arg19=) c.53_55delinsGAA (p.Arg18=) c.-197_-195delinsGAA (n.-197_-195delinsGAA) c.-181_-179delinsGAA (n.-181_-179delinsGAA) c.8_10delinsGAA (p.Arg3=) | |
| 15 | g.72169921T>A | CA393055972 | GRAMD2A | c.60A>T (p.Arg20Ser) c.24A>T (p.Arg8Ser) n.215A>T c.30A>T (p.Arg10Ser) c.39A>T (p.Arg13Ser) c.57A>T (p.Arg19Ser) c.54A>T (p.Arg18Ser) c.-196A>T (n.-196A>T) c.-180A>T (n.-180A>T) c.9A>T (p.Arg3Ser) | |
| 15 | g.72169921T>C | CA491132877 | GRAMD2A | c.60A>G (p.Arg20=) c.24A>G (p.Arg8=) n.215A>G c.30A>G (p.Arg10=) c.39A>G (p.Arg13=) c.57A>G (p.Arg19=) c.54A>G (p.Arg18=) c.-196A>G (n.-196A>G) c.-180A>G (n.-180A>G) c.9A>G (p.Arg3=) | |
| 15 | g.72169921T>G | CA393055975 | GRAMD2A | c.60A>C (p.Arg20Ser) c.24A>C (p.Arg8Ser) n.215A>C c.30A>C (p.Arg10Ser) c.39A>C (p.Arg13Ser) c.57A>C (p.Arg19Ser) c.54A>C (p.Arg18Ser) c.-196A>C (n.-196A>C) c.-180A>C (n.-180A>C) c.9A>C (p.Arg3Ser) | |
| 15 | g.72169922_72169923del | CA2186665683 | GRAMD2A | c.59_60del (p.Arg20LysfsTer19) c.23_24del (p.Arg8LysfsTer19) n.214_215del c.29_30del (p.Arg10LysfsTer19) c.38_39del (p.Arg13LysfsTer19) c.56_57del (p.Arg19LysfsTer19) c.53_54del (p.Arg18LysfsTer19) c.-197_-196del (n.-197_-196del) c.-181_-180del (n.-181_-180del) c.8_9del (p.Arg3LysfsTer19) | dbSNP gnomAD v4 |
| 15 | g.72169922C>A | CA393055977 | GRAMD2A | c.59G>T (p.Arg20Ile) c.23G>T (p.Arg8Ile) n.214G>T c.29G>T (p.Arg10Ile) c.38G>T (p.Arg13Ile) c.56G>T (p.Arg19Ile) c.53G>T (p.Arg18Ile) c.-197G>T (n.-197G>T) c.-181G>T (n.-181G>T) c.8G>T (p.Arg3Ile) | |
| 15 | g.72169922C>G | CA393055980 | GRAMD2A | c.59G>C (p.Arg20Thr) c.23G>C (p.Arg8Thr) n.214G>C c.29G>C (p.Arg10Thr) c.38G>C (p.Arg13Thr) c.56G>C (p.Arg19Thr) c.53G>C (p.Arg18Thr) c.-197G>C (n.-197G>C) c.-181G>C (n.-181G>C) c.8G>C (p.Arg3Thr) | |
| 15 | g.72169922C>T | CA393055983 | GRAMD2A | c.59G>A (p.Arg20Lys) c.23G>A (p.Arg8Lys) n.214G>A c.29G>A (p.Arg10Lys) c.38G>A (p.Arg13Lys) c.56G>A (p.Arg19Lys) c.53G>A (p.Arg18Lys) c.-197G>A (n.-197G>A) c.-181G>A (n.-181G>A) c.8G>A (p.Arg3Lys) | |
| 15 | g.72169923T>A | CA393055988 | GRAMD2A | c.58A>T (p.Arg20Ter) c.22A>T (p.Arg8Ter) n.213A>T c.28A>T (p.Arg10Ter) c.37A>T (p.Arg13Ter) c.55A>T (p.Arg19Ter) c.52A>T (p.Arg18Ter) c.-198A>T (n.-198A>T) c.-182A>T (n.-182A>T) c.7A>T (p.Arg3Ter) | |
| 15 | g.72169923T>C | CA393055989 | GRAMD2A | c.58A>G (p.Arg20Gly) c.22A>G (p.Arg8Gly) n.213A>G c.28A>G (p.Arg10Gly) c.37A>G (p.Arg13Gly) c.55A>G (p.Arg19Gly) c.52A>G (p.Arg18Gly) c.-198A>G (n.-198A>G) c.-182A>G (n.-182A>G) c.7A>G (p.Arg3Gly) | dbSNP |
| 15 | g.72169923T>G | CA491132880 | GRAMD2A | c.58A>C (p.Arg20=) c.22A>C (p.Arg8=) n.213A>C c.28A>C (p.Arg10=) c.37A>C (p.Arg13=) c.55A>C (p.Arg19=) c.52A>C (p.Arg18=) c.-198A>C (n.-198A>C) c.-182A>C (n.-182A>C) c.7A>C (p.Arg3=) | |
| 15 | g.72169924G>A | CA491132881 | GRAMD2A | c.57C>T (p.His19=) c.21C>T (p.His7=) n.212C>T c.27C>T (p.His9=) c.36C>T (p.His12=) c.54C>T (p.His18=) c.51C>T (p.His17=) c.-199C>T (n.-199C>T) c.-183C>T (n.-183C>T) c.6C>T (p.His2=) | |
| 15 | g.72169924G>C | CA7643005 | GRAMD2A | c.57C>G (p.His19Gln) c.21C>G (p.His7Gln) n.212C>G c.27C>G (p.His9Gln) c.36C>G (p.His12Gln) c.54C>G (p.His18Gln) c.51C>G (p.His17Gln) c.-199C>G (n.-199C>G) c.-183C>G (n.-183C>G) c.6C>G (p.His2Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.72169924G= | CA2186665684 | GRAMD2A | c.57C= (p.His19=) c.21C= (p.His7=) n.212C= c.27C= (p.His9=) c.36C= (p.His12=) c.54C= (p.His18=) c.51C= (p.His17=) c.-199C= (n.-199C=) c.-183C= (n.-183C=) c.6C= (p.His2=) | |
| 15 | g.72169924G>T | CA393055992 | GRAMD2A | c.57C>A (p.His19Gln) c.21C>A (p.His7Gln) n.212C>A c.27C>A (p.His9Gln) c.36C>A (p.His12Gln) c.54C>A (p.His18Gln) c.51C>A (p.His17Gln) c.-199C>A (n.-199C>A) c.-183C>A (n.-183C>A) c.6C>A (p.His2Gln) | |
| 15 | g.72169925T>A | CA393055993 | GRAMD2A | c.56A>T (p.His19Leu) c.20A>T (p.His7Leu) n.211A>T c.26A>T (p.His9Leu) c.35A>T (p.His12Leu) c.53A>T (p.His18Leu) c.50A>T (p.His17Leu) c.-200A>T (n.-200A>T) c.-184A>T (n.-184A>T) c.5A>T (p.His2Leu) | |
| 15 | g.72169925T>C | CA393055994 | GRAMD2A | c.56A>G (p.His19Arg) c.20A>G (p.His7Arg) n.211A>G c.26A>G (p.His9Arg) c.35A>G (p.His12Arg) c.53A>G (p.His18Arg) c.50A>G (p.His17Arg) c.-200A>G (n.-200A>G) c.-184A>G (n.-184A>G) c.5A>G (p.His2Arg) | |
| 15 | g.72169925T>G | CA7643006 | GRAMD2A | c.56A>C (p.His19Pro) c.20A>C (p.His7Pro) n.211A>C c.26A>C (p.His9Pro) c.35A>C (p.His12Pro) c.53A>C (p.His18Pro) c.50A>C (p.His17Pro) c.-200A>C (n.-200A>C) c.-184A>C (n.-184A>C) c.5A>C (p.His2Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.72169925T= | CA2186665685 | GRAMD2A | c.56A= (p.His19=) c.20A= (p.His7=) n.211A= c.26A= (p.His9=) c.35A= (p.His12=) c.53A= (p.His18=) c.50A= (p.His17=) c.-200A= (n.-200A=) c.-184A= (n.-184A=) c.5A= (p.His2=) | |
| 15 | g.72169926G>A | CA393055997 | GRAMD2A | c.55C>T (p.His19Tyr) c.19C>T (p.His7Tyr) n.210C>T c.25C>T (p.His9Tyr) c.34C>T (p.His12Tyr) c.52C>T (p.His18Tyr) c.49C>T (p.His17Tyr) c.-201C>T (n.-201C>T) c.-185C>T (n.-185C>T) c.4C>T (p.His2Tyr) | |
| 15 | g.72169926G>C | CA393056000 | GRAMD2A | c.55C>G (p.His19Asp) c.19C>G (p.His7Asp) n.210C>G c.25C>G (p.His9Asp) c.34C>G (p.His12Asp) c.52C>G (p.His18Asp) c.49C>G (p.His17Asp) c.-201C>G (n.-201C>G) c.-185C>G (n.-185C>G) c.4C>G (p.His2Asp) | |
| 15 | g.72169926G>T | CA393056003 | GRAMD2A | c.55C>A (p.His19Asn) c.19C>A (p.His7Asn) n.210C>A c.25C>A (p.His9Asn) c.34C>A (p.His12Asn) c.52C>A (p.His18Asn) c.49C>A (p.His17Asn) c.-201C>A (n.-201C>A) c.-185C>A (n.-185C>A) c.4C>A (p.His2Asn) | |
| 15 | g.72169927C>A | CA393056008 | GRAMD2A | c.54G>T (p.Met18Ile) c.18G>T (p.Met6Ile) n.209G>T c.24G>T (p.Met8Ile) c.33G>T (p.Met11Ile) c.51G>T (p.Met17Ile) c.48G>T (p.Met16Ile) c.-202G>T (n.-202G>T) c.-186G>T (n.-186G>T) c.3G>T (p.Met1Ile) | |
| 15 | g.72169927C>G | CA393056011 | GRAMD2A | c.54G>C (p.Met18Ile) c.18G>C (p.Met6Ile) n.209G>C c.24G>C (p.Met8Ile) c.33G>C (p.Met11Ile) c.51G>C (p.Met17Ile) c.48G>C (p.Met16Ile) c.-202G>C (n.-202G>C) c.-186G>C (n.-186G>C) c.3G>C (p.Met1Ile) | |
| 15 | g.72169927C>T | CA393056013 | GRAMD2A | c.54G>A (p.Met18Ile) c.18G>A (p.Met6Ile) n.209G>A c.24G>A (p.Met8Ile) c.33G>A (p.Met11Ile) c.51G>A (p.Met17Ile) c.48G>A (p.Met16Ile) c.-202G>A (n.-202G>A) c.-186G>A (n.-186G>A) c.3G>A (p.Met1Ile) | |
| 15 | g.72169928A= | CA2186665686 | GRAMD2A | c.53T= (p.Met18=) c.17T= (p.Met6=) n.208T= c.23T= (p.Met8=) c.32T= (p.Met11=) c.50T= (p.Met17=) c.47T= (p.Met16=) c.-203T= (n.-203T=) c.-187T= (n.-187T=) c.2T= (p.Met1=) |