Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.15402207C>A | CA345881955 | NBAS | c.1129G>T n.3045G>T c.3032G>T (p.Cys1011Phe) c.324G>T c.173G>T (p.Cys58Phe) c.175G>T n.3076G>T c.2903G>T (p.Cys968Phe) c.2393G>T (p.Cys798Phe) c.833G>T (p.Cys278Phe) c.824G>T (p.Cys275Phe) n.3062G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15402207C= | CA2490879600 | NBAS | c.1129G= n.3045G= c.3032G= (p.Cys1011=) c.324G= c.173G= (p.Cys58=) c.175G= n.3076G= c.2903G= (p.Cys968=) c.2393G= (p.Cys798=) c.833G= (p.Cys278=) c.824G= (p.Cys275=) n.3062G= | |
2 | g.15402207C>G | CA345881957 | NBAS | c.1129G>C n.3045G>C c.3032G>C (p.Cys1011Ser) c.324G>C c.173G>C (p.Cys58Ser) c.175G>C n.3076G>C c.2903G>C (p.Cys968Ser) c.2393G>C (p.Cys798Ser) c.833G>C (p.Cys278Ser) c.824G>C (p.Cys275Ser) n.3062G>C | |
2 | g.15402207C>T | CA345881958 | NBAS | c.1129G>A n.3045G>A c.3032G>A (p.Cys1011Tyr) c.324G>A c.173G>A (p.Cys58Tyr) c.175G>A n.3076G>A c.2903G>A (p.Cys968Tyr) c.2393G>A (p.Cys798Tyr) c.833G>A (p.Cys278Tyr) c.824G>A (p.Cys275Tyr) n.3062G>A | |
2 | g.15402208A= | CA2490879601 | NBAS | c.1128T= n.3044T= c.3031T= (p.Cys1011=) c.323T= c.172T= (p.Cys58=) c.174T= n.3075T= c.2902T= (p.Cys968=) c.2392T= (p.Cys798=) c.832T= (p.Cys278=) c.823T= (p.Cys275=) n.3061T= | |
2 | g.15402208A>C | CA345881959 | NBAS | c.1128T>G n.3044T>G c.3031T>G (p.Cys1011Gly) c.323T>G c.172T>G (p.Cys58Gly) c.174T>G n.3075T>G c.2902T>G (p.Cys968Gly) c.2392T>G (p.Cys798Gly) c.832T>G (p.Cys278Gly) c.823T>G (p.Cys275Gly) n.3061T>G | |
2 | g.15402208A>G | CA345881961 | NBAS | c.1128T>C n.3044T>C c.3031T>C (p.Cys1011Arg) c.323T>C c.172T>C (p.Cys58Arg) c.174T>C n.3075T>C c.2902T>C (p.Cys968Arg) c.2392T>C (p.Cys798Arg) c.832T>C (p.Cys278Arg) c.823T>C (p.Cys275Arg) n.3061T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15402208A>T | CA345881962 | NBAS | c.1128T>A n.3044T>A c.3031T>A (p.Cys1011Ser) c.323T>A c.172T>A (p.Cys58Ser) c.174T>A n.3075T>A c.2902T>A (p.Cys968Ser) c.2392T>A (p.Cys798Ser) c.832T>A (p.Cys278Ser) c.823T>A (p.Cys275Ser) n.3061T>A | |
2 | g.15402209A= | CA2490879602 | NBAS | c.1127T= n.3043T= c.3030T= (p.Leu1010=) c.322T= c.171T= (p.Leu57=) c.173T= n.3074T= c.2901T= (p.Leu967=) c.2391T= (p.Leu797=) c.831T= (p.Leu277=) c.822T= (p.Leu274=) n.3060T= | |
2 | g.15402209A>C | CA424868940 | NBAS | c.1127T>G n.3043T>G c.3030T>G (p.Leu1010=) c.322T>G c.171T>G (p.Leu57=) c.173T>G n.3074T>G c.2901T>G (p.Leu967=) c.2391T>G (p.Leu797=) c.831T>G (p.Leu277=) c.822T>G (p.Leu274=) n.3060T>G | |
2 | g.15402209A>G | CA424868941 | NBAS | c.1127T>C n.3043T>C c.3030T>C (p.Leu1010=) c.322T>C c.171T>C (p.Leu57=) c.173T>C n.3074T>C c.2901T>C (p.Leu967=) c.2391T>C (p.Leu797=) c.831T>C (p.Leu277=) c.822T>C (p.Leu274=) n.3060T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15402209A>T | CA424868942 | NBAS | c.1127T>A n.3043T>A c.3030T>A (p.Leu1010=) c.322T>A c.171T>A (p.Leu57=) c.173T>A n.3074T>A c.2901T>A (p.Leu967=) c.2391T>A (p.Leu797=) c.831T>A (p.Leu277=) c.822T>A (p.Leu274=) n.3060T>A | |
2 | g.15402210A>C | CA345881967 | NBAS | c.1126T>G n.3042T>G c.3029T>G (p.Leu1010Arg) c.321T>G c.170T>G (p.Leu57Arg) c.172T>G n.3073T>G c.2900T>G (p.Leu967Arg) c.2390T>G (p.Leu797Arg) c.830T>G (p.Leu277Arg) c.821T>G (p.Leu274Arg) n.3059T>G | |
2 | g.15402210A>G | CA345881965 | NBAS | c.1126T>C n.3042T>C c.3029T>C (p.Leu1010Pro) c.321T>C c.170T>C (p.Leu57Pro) c.172T>C n.3073T>C c.2900T>C (p.Leu967Pro) c.2390T>C (p.Leu797Pro) c.830T>C (p.Leu277Pro) c.821T>C (p.Leu274Pro) n.3059T>C | |
2 | g.15402210A>T | CA345881964 | NBAS | c.1126T>A n.3042T>A c.3029T>A (p.Leu1010His) c.321T>A c.170T>A (p.Leu57His) c.172T>A n.3073T>A c.2900T>A (p.Leu967His) c.2390T>A (p.Leu797His) c.830T>A (p.Leu277His) c.821T>A (p.Leu274His) n.3059T>A | |
2 | g.15402211G>A | CA345881968 | NBAS | c.1125C>T n.3041C>T c.3028C>T (p.Leu1010Phe) c.320C>T c.169C>T (p.Leu57Phe) c.171C>T n.3072C>T c.2899C>T (p.Leu967Phe) c.2389C>T (p.Leu797Phe) c.829C>T (p.Leu277Phe) c.820C>T (p.Leu274Phe) n.3058C>T | |
2 | g.15402211G>C | CA345881970 | NBAS | c.1125C>G n.3041C>G c.3028C>G (p.Leu1010Val) c.320C>G c.169C>G (p.Leu57Val) c.171C>G n.3072C>G c.2899C>G (p.Leu967Val) c.2389C>G (p.Leu797Val) c.829C>G (p.Leu277Val) c.820C>G (p.Leu274Val) n.3058C>G | |
2 | g.15402211G>T | CA345881972 | NBAS | c.1125C>A n.3041C>A c.3028C>A (p.Leu1010Ile) c.320C>A c.169C>A (p.Leu57Ile) c.171C>A n.3072C>A c.2899C>A (p.Leu967Ile) c.2389C>A (p.Leu797Ile) c.829C>A (p.Leu277Ile) c.820C>A (p.Leu274Ile) n.3058C>A | |
2 | g.15402212A>C | CA345881974 | NBAS | c.1124T>G n.3040T>G c.3027T>G (p.Cys1009Trp) c.319T>G c.168T>G (p.Cys56Trp) c.170T>G n.3071T>G c.2898T>G (p.Cys966Trp) c.2388T>G (p.Cys796Trp) c.828T>G (p.Cys276Trp) c.819T>G (p.Cys273Trp) n.3057T>G | |
2 | g.15402212A>G | CA424868943 | NBAS | c.1124T>C n.3040T>C c.3027T>C (p.Cys1009=) c.319T>C c.168T>C (p.Cys56=) c.170T>C n.3071T>C c.2898T>C (p.Cys966=) c.2388T>C (p.Cys796=) c.828T>C (p.Cys276=) c.819T>C (p.Cys273=) n.3057T>C | |
2 | g.15402212A>T | CA345881975 | NBAS | c.1124T>A n.3040T>A c.3027T>A (p.Cys1009Ter) c.319T>A c.168T>A (p.Cys56Ter) c.170T>A n.3071T>A c.2898T>A (p.Cys966Ter) c.2388T>A (p.Cys796Ter) c.828T>A (p.Cys276Ter) c.819T>A (p.Cys273Ter) n.3057T>A | |
2 | g.15402213C>A | CA345881977 | NBAS | c.1123G>T n.3039G>T c.3026G>T (p.Cys1009Phe) c.318G>T c.167G>T (p.Cys56Phe) c.169G>T n.3070G>T c.2897G>T (p.Cys966Phe) c.2387G>T (p.Cys796Phe) c.827G>T (p.Cys276Phe) c.818G>T (p.Cys273Phe) n.3056G>T | |
2 | g.15402213C= | CA2490879603 | NBAS | c.1123G= n.3039G= c.3026G= (p.Cys1009=) c.318G= c.167G= (p.Cys56=) c.169G= n.3070G= c.2897G= (p.Cys966=) c.2387G= (p.Cys796=) c.827G= (p.Cys276=) c.818G= (p.Cys273=) n.3056G= | |
2 | g.15402213C>G | CA1536191 | NBAS | c.1123G>C n.3039G>C c.3026G>C (p.Cys1009Ser) c.318G>C c.167G>C (p.Cys56Ser) c.169G>C n.3070G>C c.2897G>C (p.Cys966Ser) c.2387G>C (p.Cys796Ser) c.827G>C (p.Cys276Ser) c.818G>C (p.Cys273Ser) n.3056G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402213C>T | CA345881980 | NBAS | c.1123G>A n.3039G>A c.3026G>A (p.Cys1009Tyr) c.318G>A c.167G>A (p.Cys56Tyr) c.169G>A n.3070G>A c.2897G>A (p.Cys966Tyr) c.2387G>A (p.Cys796Tyr) c.827G>A (p.Cys276Tyr) c.818G>A (p.Cys273Tyr) n.3056G>A | |
2 | g.15402214A>C | CA345881982 | NBAS | c.1122T>G n.3038T>G c.3025T>G (p.Cys1009Gly) c.317T>G c.166T>G (p.Cys56Gly) c.168T>G n.3069T>G c.2896T>G (p.Cys966Gly) c.2386T>G (p.Cys796Gly) c.826T>G (p.Cys276Gly) c.817T>G (p.Cys273Gly) n.3055T>G | |
2 | g.15402214A>G | CA345881988 | NBAS | c.1122T>C n.3038T>C c.3025T>C (p.Cys1009Arg) c.317T>C c.166T>C (p.Cys56Arg) c.168T>C n.3069T>C c.2896T>C (p.Cys966Arg) c.2386T>C (p.Cys796Arg) c.826T>C (p.Cys276Arg) c.817T>C (p.Cys273Arg) n.3055T>C | |
2 | g.15402214A>T | CA345881990 | NBAS | c.1122T>A n.3038T>A c.3025T>A (p.Cys1009Ser) c.317T>A c.166T>A (p.Cys56Ser) c.168T>A n.3069T>A c.2896T>A (p.Cys966Ser) c.2386T>A (p.Cys796Ser) c.826T>A (p.Cys276Ser) c.817T>A (p.Cys273Ser) n.3055T>A | |
2 | g.15402216_15402217del | CA2698761892 | NBAS | c.1121_1122del n.3037_3038del c.3024_3025del (p.Cys1009SerfsTer4) c.316_317del c.165_166del (p.Cys56SerfsTer4) c.167_168del n.3068_3069del c.2895_2896del (p.Cys966SerfsTer4) c.2385_2386del (p.Cys796SerfsTer4) c.825_826del (p.Cys276SerfsTer4) c.816_817del (p.Cys273SerfsTer4) n.3054_3055del | dbSNP |
2 | g.15402215G>A | CA424868944 | NBAS | c.1121C>T n.3037C>T c.3024C>T (p.Leu1008=) c.316C>T c.165C>T (p.Leu55=) c.167C>T n.3068C>T c.2895C>T (p.Leu965=) c.2385C>T (p.Leu795=) c.825C>T (p.Leu275=) c.816C>T (p.Leu272=) n.3054C>T | ClinVar |
2 | g.15402215G>C | CA424868945 | NBAS | c.1121C>G n.3037C>G c.3024C>G (p.Leu1008=) c.316C>G c.165C>G (p.Leu55=) c.167C>G n.3068C>G c.2895C>G (p.Leu965=) c.2385C>G (p.Leu795=) c.825C>G (p.Leu275=) c.816C>G (p.Leu272=) n.3054C>G | |
2 | g.15402215G>T | CA424868946 | NBAS | c.1121C>A n.3037C>A c.3024C>A (p.Leu1008=) c.316C>A c.165C>A (p.Leu55=) c.167C>A n.3068C>A c.2895C>A (p.Leu965=) c.2385C>A (p.Leu795=) c.825C>A (p.Leu275=) c.816C>A (p.Leu272=) n.3054C>A | |
2 | g.15402216A>C | CA345881997 | NBAS | c.1120T>G n.3036T>G c.3023T>G (p.Leu1008Arg) c.315T>G c.164T>G (p.Leu55Arg) c.166T>G n.3067T>G c.2894T>G (p.Leu965Arg) c.2384T>G (p.Leu795Arg) c.824T>G (p.Leu275Arg) c.815T>G (p.Leu272Arg) n.3053T>G | |
2 | g.15402216A>G | CA345881995 | NBAS | c.1120T>C n.3036T>C c.3023T>C (p.Leu1008Pro) c.315T>C c.164T>C (p.Leu55Pro) c.166T>C n.3067T>C c.2894T>C (p.Leu965Pro) c.2384T>C (p.Leu795Pro) c.824T>C (p.Leu275Pro) c.815T>C (p.Leu272Pro) n.3053T>C | |
2 | g.15402216A>T | CA345881993 | NBAS | c.1120T>A n.3036T>A c.3023T>A (p.Leu1008His) c.315T>A c.164T>A (p.Leu55His) c.166T>A n.3067T>A c.2894T>A (p.Leu965His) c.2384T>A (p.Leu795His) c.824T>A (p.Leu275His) c.815T>A (p.Leu272His) n.3053T>A | |
2 | g.15402217G>A | CA345881998 | NBAS | c.1119C>T n.3035C>T c.3022C>T (p.Leu1008Phe) c.314C>T c.163C>T (p.Leu55Phe) c.165C>T n.3066C>T c.2893C>T (p.Leu965Phe) c.2383C>T (p.Leu795Phe) c.823C>T (p.Leu275Phe) c.814C>T (p.Leu272Phe) n.3052C>T | |
2 | g.15402217G>C | CA345881999 | NBAS | c.1119C>G n.3035C>G c.3022C>G (p.Leu1008Val) c.314C>G c.163C>G (p.Leu55Val) c.165C>G n.3066C>G c.2893C>G (p.Leu965Val) c.2383C>G (p.Leu795Val) c.823C>G (p.Leu275Val) c.814C>G (p.Leu272Val) n.3052C>G | gnomAD v4 |
2 | g.15402217G>T | CA345882000 | NBAS | c.1119C>A n.3035C>A c.3022C>A (p.Leu1008Ile) c.314C>A c.163C>A (p.Leu55Ile) c.165C>A n.3066C>A c.2893C>A (p.Leu965Ile) c.2383C>A (p.Leu795Ile) c.823C>A (p.Leu275Ile) c.814C>A (p.Leu272Ile) n.3052C>A | |
2 | g.15402218T>A | CA345882001 | NBAS | c.1118A>T n.3034A>T c.3021A>T (p.Gln1007His) c.313A>T c.162A>T (p.Gln54His) c.164A>T n.3065A>T c.2892A>T (p.Gln964His) c.2382A>T (p.Gln794His) c.822A>T (p.Gln274His) c.813A>T (p.Gln271His) n.3051A>T | |
2 | g.15402218T>C | CA424868947 | NBAS | c.1118A>G n.3034A>G c.3021A>G (p.Gln1007=) c.313A>G c.162A>G (p.Gln54=) c.164A>G n.3065A>G c.2892A>G (p.Gln964=) c.2382A>G (p.Gln794=) c.822A>G (p.Gln274=) c.813A>G (p.Gln271=) n.3051A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402218T>G | CA345882003 | NBAS | c.1118A>C n.3034A>C c.3021A>C (p.Gln1007His) c.313A>C c.162A>C (p.Gln54His) c.164A>C n.3065A>C c.2892A>C (p.Gln964His) c.2382A>C (p.Gln794His) c.822A>C (p.Gln274His) c.813A>C (p.Gln271His) n.3051A>C | |
2 | g.15402218T= | CA2490879604 | NBAS | c.1118A= n.3034A= c.3021A= (p.Gln1007=) c.313A= c.162A= (p.Gln54=) c.164A= n.3065A= c.2892A= (p.Gln964=) c.2382A= (p.Gln794=) c.822A= (p.Gln274=) c.813A= (p.Gln271=) n.3051A= | |
2 | g.15402219T>A | CA345882005 | NBAS | c.1117A>T n.3033A>T c.3020A>T (p.Gln1007Leu) c.312A>T c.161A>T (p.Gln54Leu) c.163A>T n.3064A>T c.2891A>T (p.Gln964Leu) c.2381A>T (p.Gln794Leu) c.821A>T (p.Gln274Leu) c.812A>T (p.Gln271Leu) n.3050A>T | |
2 | g.15402219T>C | CA345882006 | NBAS | c.1117A>G n.3033A>G c.3020A>G (p.Gln1007Arg) c.312A>G c.161A>G (p.Gln54Arg) c.163A>G n.3064A>G c.2891A>G (p.Gln964Arg) c.2381A>G (p.Gln794Arg) c.821A>G (p.Gln274Arg) c.812A>G (p.Gln271Arg) n.3050A>G | gnomAD v4 |
2 | g.15402219T>G | CA345882008 | NBAS | c.1117A>C n.3033A>C c.3020A>C (p.Gln1007Pro) c.312A>C c.161A>C (p.Gln54Pro) c.163A>C n.3064A>C c.2891A>C (p.Gln964Pro) c.2381A>C (p.Gln794Pro) c.821A>C (p.Gln274Pro) c.812A>C (p.Gln271Pro) n.3050A>C | |
2 | g.15402220del | CA2576680855 | NBAS | c.1116del n.3032del c.3019del (p.Gln1007AsnfsTer9) c.311del c.160del (p.Gln54AsnfsTer9) c.162del n.3063del c.2890del (p.Gln964AsnfsTer9) c.2380del (p.Gln794AsnfsTer9) c.820del (p.Gln274AsnfsTer9) c.811del (p.Gln271AsnfsTer9) n.3049del | |
2 | g.15402220G>A | CA345882009 | NBAS | c.1116C>T n.3032C>T c.3019C>T (p.Gln1007Ter) c.311C>T c.160C>T (p.Gln54Ter) c.162C>T n.3063C>T c.2890C>T (p.Gln964Ter) c.2380C>T (p.Gln794Ter) c.820C>T (p.Gln274Ter) c.811C>T (p.Gln271Ter) n.3049C>T | gnomAD v4 COSMIC |
2 | g.15402220G>C | CA345882010 | NBAS | c.1116C>G n.3032C>G c.3019C>G (p.Gln1007Glu) c.311C>G c.160C>G (p.Gln54Glu) c.162C>G n.3063C>G c.2890C>G (p.Gln964Glu) c.2380C>G (p.Gln794Glu) c.820C>G (p.Gln274Glu) c.811C>G (p.Gln271Glu) n.3049C>G | |
2 | g.15402220G>T | CA345882011 | NBAS | c.1116C>A n.3032C>A c.3019C>A (p.Gln1007Lys) c.311C>A c.160C>A (p.Gln54Lys) c.162C>A n.3063C>A c.2890C>A (p.Gln964Lys) c.2380C>A (p.Gln794Lys) c.820C>A (p.Gln274Lys) c.811C>A (p.Gln271Lys) n.3049C>A | gnomAD v4 |
2 | g.15402221A>C | CA345882012 | NBAS | c.1115T>G n.3031T>G c.3018T>G (p.Asp1006Glu) c.310T>G c.159T>G (p.Asp53Glu) c.161T>G n.3062T>G c.2889T>G (p.Asp963Glu) c.2379T>G (p.Asp793Glu) c.819T>G (p.Asp273Glu) c.810T>G (p.Asp270Glu) n.3048T>G | gnomAD v4 |
2 | g.15402221A>G | CA424868948 | NBAS | c.1115T>C n.3031T>C c.3018T>C (p.Asp1006=) c.310T>C c.159T>C (p.Asp53=) c.161T>C n.3062T>C c.2889T>C (p.Asp963=) c.2379T>C (p.Asp793=) c.819T>C (p.Asp273=) c.810T>C (p.Asp270=) n.3048T>C | gnomAD v4 |
2 | g.15402221A>T | CA345882013 | NBAS | c.1115T>A n.3031T>A c.3018T>A (p.Asp1006Glu) c.310T>A c.159T>A (p.Asp53Glu) c.161T>A n.3062T>A c.2889T>A (p.Asp963Glu) c.2379T>A (p.Asp793Glu) c.819T>A (p.Asp273Glu) c.810T>A (p.Asp270Glu) n.3048T>A | |
2 | g.15402222T>A | CA1536192 | NBAS | c.1114A>T n.3030A>T c.3017A>T (p.Asp1006Val) c.309A>T c.158A>T (p.Asp53Val) c.160A>T n.3061A>T c.2888A>T (p.Asp963Val) c.2378A>T (p.Asp793Val) c.818A>T (p.Asp273Val) c.809A>T (p.Asp270Val) n.3047A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15402222T>C | CA345882015 | NBAS | c.1114A>G n.3030A>G c.3017A>G (p.Asp1006Gly) c.309A>G c.158A>G (p.Asp53Gly) c.160A>G n.3061A>G c.2888A>G (p.Asp963Gly) c.2378A>G (p.Asp793Gly) c.818A>G (p.Asp273Gly) c.809A>G (p.Asp270Gly) n.3047A>G | |
2 | g.15402222T>G | CA345882017 | NBAS | c.1114A>C n.3030A>C c.3017A>C (p.Asp1006Ala) c.309A>C c.158A>C (p.Asp53Ala) c.160A>C n.3061A>C c.2888A>C (p.Asp963Ala) c.2378A>C (p.Asp793Ala) c.818A>C (p.Asp273Ala) c.809A>C (p.Asp270Ala) n.3047A>C | |
2 | g.15402222T= | CA2490879605 | NBAS | c.1114A= n.3030A= c.3017A= (p.Asp1006=) c.309A= c.158A= (p.Asp53=) c.160A= n.3061A= c.2888A= (p.Asp963=) c.2378A= (p.Asp793=) c.818A= (p.Asp273=) c.809A= (p.Asp270=) n.3047A= | |
2 | g.15402223C>A | CA345882020 | NBAS | c.1113G>T n.3029G>T c.3016G>T (p.Asp1006Tyr) c.308G>T c.157G>T (p.Asp53Tyr) c.159G>T n.3060G>T c.2887G>T (p.Asp963Tyr) c.2377G>T (p.Asp793Tyr) c.817G>T (p.Asp273Tyr) c.808G>T (p.Asp270Tyr) n.3046G>T | gnomAD v4 |
2 | g.15402223C>G | CA345882022 | NBAS | c.1113G>C n.3029G>C c.3016G>C (p.Asp1006His) c.308G>C c.157G>C (p.Asp53His) c.159G>C n.3060G>C c.2887G>C (p.Asp963His) c.2377G>C (p.Asp793His) c.817G>C (p.Asp273His) c.808G>C (p.Asp270His) n.3046G>C | |
2 | g.15402223C>T | CA345882024 | NBAS | c.1113G>A n.3029G>A c.3016G>A (p.Asp1006Asn) c.308G>A c.157G>A (p.Asp53Asn) c.159G>A n.3060G>A c.2887G>A (p.Asp963Asn) c.2377G>A (p.Asp793Asn) c.817G>A (p.Asp273Asn) c.808G>A (p.Asp270Asn) n.3046G>A | |
2 | g.15402224A>C | CA345882027 | NBAS | c.1112T>G n.3028T>G c.3015T>G (p.Asn1005Lys) c.307T>G c.156T>G (p.Asn52Lys) c.158T>G n.3059T>G c.2886T>G (p.Asn962Lys) c.2376T>G (p.Asn792Lys) c.816T>G (p.Asn272Lys) c.807T>G (p.Asn269Lys) n.3045T>G | gnomAD v4 |
2 | g.15402224A>G | CA424868949 | NBAS | c.1112T>C n.3028T>C c.3015T>C (p.Asn1005=) c.307T>C c.156T>C (p.Asn52=) c.158T>C n.3059T>C c.2886T>C (p.Asn962=) c.2376T>C (p.Asn792=) c.816T>C (p.Asn272=) c.807T>C (p.Asn269=) n.3045T>C | gnomAD v4 |
2 | g.15402224A>T | CA345882028 | NBAS | c.1112T>A n.3028T>A c.3015T>A (p.Asn1005Lys) c.307T>A c.156T>A (p.Asn52Lys) c.158T>A n.3059T>A c.2886T>A (p.Asn962Lys) c.2376T>A (p.Asn792Lys) c.816T>A (p.Asn272Lys) c.807T>A (p.Asn269Lys) n.3045T>A | |
2 | g.15402225T>A | CA345882030 | NBAS | c.1111A>T n.3027A>T c.3014A>T (p.Asn1005Ile) c.306A>T c.155A>T (p.Asn52Ile) c.157A>T n.3058A>T c.2885A>T (p.Asn962Ile) c.2375A>T (p.Asn792Ile) c.815A>T (p.Asn272Ile) c.806A>T (p.Asn269Ile) n.3044A>T | gnomAD v4 |
2 | g.15402225T>C | CA42621728 | NBAS | c.1111A>G n.3027A>G c.3014A>G (p.Asn1005Ser) c.306A>G c.155A>G (p.Asn52Ser) c.157A>G n.3058A>G c.2885A>G (p.Asn962Ser) c.2375A>G (p.Asn792Ser) c.815A>G (p.Asn272Ser) c.806A>G (p.Asn269Ser) n.3044A>G | dbSNP |
2 | g.15402225T>G | CA345882032 | NBAS | c.1111A>C n.3027A>C c.3014A>C (p.Asn1005Thr) c.306A>C c.155A>C (p.Asn52Thr) c.157A>C n.3058A>C c.2885A>C (p.Asn962Thr) c.2375A>C (p.Asn792Thr) c.815A>C (p.Asn272Thr) c.806A>C (p.Asn269Thr) n.3044A>C | |
2 | g.15402225T= | CA2490879606 | NBAS | c.1111A= n.3027A= c.3014A= (p.Asn1005=) c.306A= c.155A= (p.Asn52=) c.157A= n.3058A= c.2885A= (p.Asn962=) c.2375A= (p.Asn792=) c.815A= (p.Asn272=) c.806A= (p.Asn269=) n.3044A= | |
2 | g.15402226T>A | CA345882034 | NBAS | c.1110A>T n.3026A>T c.3013A>T (p.Asn1005Tyr) c.305A>T c.154A>T (p.Asn52Tyr) c.156A>T n.3057A>T c.2884A>T (p.Asn962Tyr) c.2374A>T (p.Asn792Tyr) c.814A>T (p.Asn272Tyr) c.805A>T (p.Asn269Tyr) n.3043A>T | |
2 | g.15402226T>C | CA345882039 | NBAS | c.1110A>G n.3026A>G c.3013A>G (p.Asn1005Asp) c.305A>G c.154A>G (p.Asn52Asp) c.156A>G n.3057A>G c.2884A>G (p.Asn962Asp) c.2374A>G (p.Asn792Asp) c.814A>G (p.Asn272Asp) c.805A>G (p.Asn269Asp) n.3043A>G | |
2 | g.15402226T>G | CA345882042 | NBAS | c.1110A>C n.3026A>C c.3013A>C (p.Asn1005His) c.305A>C c.154A>C (p.Asn52His) c.156A>C n.3057A>C c.2884A>C (p.Asn962His) c.2374A>C (p.Asn792His) c.814A>C (p.Asn272His) c.805A>C (p.Asn269His) n.3043A>C | |
2 | g.15402227T>A | CA424868950 | NBAS | c.1109A>T n.3025A>T c.3012A>T (p.Arg1004=) c.304A>T c.153A>T (p.Arg51=) c.155A>T n.3056A>T c.2883A>T (p.Arg961=) c.2373A>T (p.Arg791=) c.813A>T (p.Arg271=) c.804A>T (p.Arg268=) n.3042A>T | |
2 | g.15402227T>C | CA424868952 | NBAS | c.1109A>G n.3025A>G c.3012A>G (p.Arg1004=) c.304A>G c.153A>G (p.Arg51=) c.155A>G n.3056A>G c.2883A>G (p.Arg961=) c.2373A>G (p.Arg791=) c.813A>G (p.Arg271=) c.804A>G (p.Arg268=) n.3042A>G | |
2 | g.15402227T>G | CA424868951 | NBAS | c.1109A>C n.3025A>C c.3012A>C (p.Arg1004=) c.304A>C c.153A>C (p.Arg51=) c.155A>C n.3056A>C c.2883A>C (p.Arg961=) c.2373A>C (p.Arg791=) c.813A>C (p.Arg271=) c.804A>C (p.Arg268=) n.3042A>C | ClinVar dbSNP gnomAD v4 |
2 | g.15402228C>A | CA345882046 | NBAS | c.1108G>T n.3024G>T c.3011G>T (p.Arg1004Leu) c.303G>T c.152G>T (p.Arg51Leu) c.154G>T n.3055G>T c.2882G>T (p.Arg961Leu) c.2372G>T (p.Arg791Leu) c.812G>T (p.Arg271Leu) c.803G>T (p.Arg268Leu) n.3041G>T | |
2 | g.15402228C= | CA2490879607 | NBAS | c.1108G= n.3024G= c.3011G= (p.Arg1004=) c.303G= c.152G= (p.Arg51=) c.154G= n.3055G= c.2882G= (p.Arg961=) c.2372G= (p.Arg791=) c.812G= (p.Arg271=) c.803G= (p.Arg268=) n.3041G= | |
2 | g.15402228C>G | CA345882044 | NBAS | c.1108G>C n.3024G>C c.3011G>C (p.Arg1004Pro) c.303G>C c.152G>C (p.Arg51Pro) c.154G>C n.3055G>C c.2882G>C (p.Arg961Pro) c.2372G>C (p.Arg791Pro) c.812G>C (p.Arg271Pro) c.803G>C (p.Arg268Pro) n.3041G>C | |
2 | g.15402228C>T | CA1536193 | NBAS | c.1108G>A n.3024G>A c.3011G>A (p.Arg1004Gln) c.303G>A c.152G>A (p.Arg51Gln) c.154G>A n.3055G>A c.2882G>A (p.Arg961Gln) c.2372G>A (p.Arg791Gln) c.812G>A (p.Arg271Gln) c.803G>A (p.Arg268Gln) n.3041G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402229G>A | CA1536194 | NBAS | c.1107C>T n.3023C>T c.3010C>T (p.Arg1004Ter) c.302C>T c.151C>T (p.Arg51Ter) c.153C>T n.3054C>T c.2881C>T (p.Arg961Ter) c.2371C>T (p.Arg791Ter) c.811C>T (p.Arg271Ter) c.802C>T (p.Arg268Ter) n.3040C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402229G>C | CA345882048 | NBAS | c.1107C>G n.3023C>G c.3010C>G (p.Arg1004Gly) c.302C>G c.151C>G (p.Arg51Gly) c.153C>G n.3054C>G c.2881C>G (p.Arg961Gly) c.2371C>G (p.Arg791Gly) c.811C>G (p.Arg271Gly) c.802C>G (p.Arg268Gly) n.3040C>G | dbSNP gnomAD v4 |
2 | g.15402229G= | CA2490879608 | NBAS | c.1107C= n.3023C= c.3010C= (p.Arg1004=) c.302C= c.151C= (p.Arg51=) c.153C= n.3054C= c.2881C= (p.Arg961=) c.2371C= (p.Arg791=) c.811C= (p.Arg271=) c.802C= (p.Arg268=) n.3040C= | |
2 | g.15402229G>T | CA424868953 | NBAS | c.1107C>A n.3023C>A c.3010C>A (p.Arg1004=) c.302C>A c.151C>A (p.Arg51=) c.153C>A n.3054C>A c.2881C>A (p.Arg961=) c.2371C>A (p.Arg791=) c.811C>A (p.Arg271=) c.802C>A (p.Arg268=) n.3040C>A | |
2 | g.15402230T>A | CA345882050 | NBAS | c.1106A>T n.3022A>T c.3009A>T (p.Glu1003Asp) c.301A>T c.150A>T (p.Glu50Asp) c.152A>T n.3053A>T c.2880A>T (p.Glu960Asp) c.2370A>T (p.Glu790Asp) c.810A>T (p.Glu270Asp) c.801A>T (p.Glu267Asp) n.3039A>T | |
2 | g.15402230T>C | CA424868954 | NBAS | c.1106A>G n.3022A>G c.3009A>G (p.Glu1003=) c.301A>G c.150A>G (p.Glu50=) c.152A>G n.3053A>G c.2880A>G (p.Glu960=) c.2370A>G (p.Glu790=) c.810A>G (p.Glu270=) c.801A>G (p.Glu267=) n.3039A>G | ClinVar gnomAD v4 |
2 | g.15402230T>G | CA345882052 | NBAS | c.1106A>C n.3022A>C c.3009A>C (p.Glu1003Asp) c.301A>C c.150A>C (p.Glu50Asp) c.152A>C n.3053A>C c.2880A>C (p.Glu960Asp) c.2370A>C (p.Glu790Asp) c.810A>C (p.Glu270Asp) c.801A>C (p.Glu267Asp) n.3039A>C | |
2 | g.15402231T>A | CA345882053 | NBAS | c.1105A>T n.3021A>T c.3008A>T (p.Glu1003Val) c.300A>T c.149A>T (p.Glu50Val) c.151A>T n.3052A>T c.2879A>T (p.Glu960Val) c.2369A>T (p.Glu790Val) c.809A>T (p.Glu270Val) c.800A>T (p.Glu267Val) n.3038A>T | |
2 | g.15402231T>C | CA345882055 | NBAS | c.1105A>G n.3021A>G c.3008A>G (p.Glu1003Gly) c.300A>G c.149A>G (p.Glu50Gly) c.151A>G n.3052A>G c.2879A>G (p.Glu960Gly) c.2369A>G (p.Glu790Gly) c.809A>G (p.Glu270Gly) c.800A>G (p.Glu267Gly) n.3038A>G | |
2 | g.15402231T>G | CA345882057 | NBAS | c.1105A>C n.3021A>C c.3008A>C (p.Glu1003Ala) c.300A>C c.149A>C (p.Glu50Ala) c.151A>C n.3052A>C c.2879A>C (p.Glu960Ala) c.2369A>C (p.Glu790Ala) c.809A>C (p.Glu270Ala) c.800A>C (p.Glu267Ala) n.3038A>C | |
2 | g.15402232C>A | CA345882058 | NBAS | c.1104G>T n.3020G>T c.3007G>T (p.Glu1003Ter) c.299G>T c.148G>T (p.Glu50Ter) c.150G>T n.3051G>T c.2878G>T (p.Glu960Ter) c.2368G>T (p.Glu790Ter) c.808G>T (p.Glu270Ter) c.799G>T (p.Glu267Ter) n.3037G>T | |
2 | g.15402232C>G | CA345882059 | NBAS | c.1104G>C n.3020G>C c.3007G>C (p.Glu1003Gln) c.299G>C c.148G>C (p.Glu50Gln) c.150G>C n.3051G>C c.2878G>C (p.Glu960Gln) c.2368G>C (p.Glu790Gln) c.808G>C (p.Glu270Gln) c.799G>C (p.Glu267Gln) n.3037G>C | |
2 | g.15402232C>T | CA345882060 | NBAS | c.1104G>A n.3020G>A c.3007G>A (p.Glu1003Lys) c.299G>A c.148G>A (p.Glu50Lys) c.150G>A n.3051G>A c.2878G>A (p.Glu960Lys) c.2368G>A (p.Glu790Lys) c.808G>A (p.Glu270Lys) c.799G>A (p.Glu267Lys) n.3037G>A | |
2 | g.15402233A= | CA2490879609 | NBAS | c.1103T= n.3019T= c.3006T= (p.Cys1002=) c.298T= c.147T= (p.Cys49=) c.149T= n.3050T= c.2877T= (p.Cys959=) c.2367T= (p.Cys789=) c.807T= (p.Cys269=) c.798T= (p.Cys266=) n.3036T= | |
2 | g.15402233A>C | CA345882065 | NBAS | c.1103T>G n.3019T>G c.3006T>G (p.Cys1002Trp) c.298T>G c.147T>G (p.Cys49Trp) c.149T>G n.3050T>G c.2877T>G (p.Cys959Trp) c.2367T>G (p.Cys789Trp) c.807T>G (p.Cys269Trp) c.798T>G (p.Cys266Trp) n.3036T>G | |
2 | g.15402233A>G | CA1536195 | NBAS | c.1103T>C n.3019T>C c.3006T>C (p.Cys1002=) c.298T>C c.147T>C (p.Cys49=) c.149T>C n.3050T>C c.2877T>C (p.Cys959=) c.2367T>C (p.Cys789=) c.807T>C (p.Cys269=) c.798T>C (p.Cys266=) n.3036T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15402233A>T | CA345882068 | NBAS | c.1103T>A n.3019T>A c.3006T>A (p.Cys1002Ter) c.298T>A c.147T>A (p.Cys49Ter) c.149T>A n.3050T>A c.2877T>A (p.Cys959Ter) c.2367T>A (p.Cys789Ter) c.807T>A (p.Cys269Ter) c.798T>A (p.Cys266Ter) n.3036T>A | |
2 | g.15402234C>A | CA345882070 | NBAS | c.1102G>T n.3018G>T c.3005G>T (p.Cys1002Phe) c.297G>T c.146G>T (p.Cys49Phe) c.148G>T n.3049G>T c.2876G>T (p.Cys959Phe) c.2366G>T (p.Cys789Phe) c.806G>T (p.Cys269Phe) c.797G>T (p.Cys266Phe) n.3035G>T | |
2 | g.15402234C>G | CA345882072 | NBAS | c.1102G>C n.3018G>C c.3005G>C (p.Cys1002Ser) c.297G>C c.146G>C (p.Cys49Ser) c.148G>C n.3049G>C c.2876G>C (p.Cys959Ser) c.2366G>C (p.Cys789Ser) c.806G>C (p.Cys269Ser) c.797G>C (p.Cys266Ser) n.3035G>C | |
2 | g.15402234C>T | CA345882077 | NBAS | c.1102G>A n.3018G>A c.3005G>A (p.Cys1002Tyr) c.297G>A c.146G>A (p.Cys49Tyr) c.148G>A n.3049G>A c.2876G>A (p.Cys959Tyr) c.2366G>A (p.Cys789Tyr) c.806G>A (p.Cys269Tyr) c.797G>A (p.Cys266Tyr) n.3035G>A | gnomAD v4 |
2 | g.15402235A>C | CA345882082 | NBAS | c.1101T>G n.3017T>G c.3004T>G (p.Cys1002Gly) c.296T>G c.145T>G (p.Cys49Gly) c.147T>G n.3048T>G c.2875T>G (p.Cys959Gly) c.2365T>G (p.Cys789Gly) c.805T>G (p.Cys269Gly) c.796T>G (p.Cys266Gly) n.3034T>G | |
2 | g.15402235A>G | CA345882079 | NBAS | c.1101T>C n.3017T>C c.3004T>C (p.Cys1002Arg) c.296T>C c.145T>C (p.Cys49Arg) c.147T>C n.3048T>C c.2875T>C (p.Cys959Arg) c.2365T>C (p.Cys789Arg) c.805T>C (p.Cys269Arg) c.796T>C (p.Cys266Arg) n.3034T>C | |
2 | g.15402235A>T | CA345882080 | NBAS | c.1101T>A n.3017T>A c.3004T>A (p.Cys1002Ser) c.296T>A c.145T>A (p.Cys49Ser) c.147T>A n.3048T>A c.2875T>A (p.Cys959Ser) c.2365T>A (p.Cys789Ser) c.805T>A (p.Cys269Ser) c.796T>A (p.Cys266Ser) n.3034T>A | |
2 | g.15402236G>A | CA424868955 | NBAS | c.1100C>T n.3016C>T c.3003C>T (p.Thr1001=) c.295C>T c.144C>T (p.Thr48=) c.146C>T n.3047C>T c.2874C>T (p.Thr958=) c.2364C>T (p.Thr788=) c.804C>T (p.Thr268=) c.795C>T (p.Thr265=) n.3033C>T | |
2 | g.15402236G>C | CA424868956 | NBAS | c.1100C>G n.3016C>G c.3003C>G (p.Thr1001=) c.295C>G c.144C>G (p.Thr48=) c.146C>G n.3047C>G c.2874C>G (p.Thr958=) c.2364C>G (p.Thr788=) c.804C>G (p.Thr268=) c.795C>G (p.Thr265=) n.3033C>G | |
2 | g.15402236G>T | CA424868957 | NBAS | c.1100C>A n.3016C>A c.3003C>A (p.Thr1001=) c.295C>A c.144C>A (p.Thr48=) c.146C>A n.3047C>A c.2874C>A (p.Thr958=) c.2364C>A (p.Thr788=) c.804C>A (p.Thr268=) c.795C>A (p.Thr265=) n.3033C>A | |
2 | g.15402237G>A | CA345882083 | NBAS | c.1099C>T n.3015C>T c.3002C>T (p.Thr1001Ile) c.294C>T c.143C>T (p.Thr48Ile) c.145C>T n.3046C>T c.2873C>T (p.Thr958Ile) c.2363C>T (p.Thr788Ile) c.803C>T (p.Thr268Ile) c.794C>T (p.Thr265Ile) n.3032C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15402237G>C | CA345882085 | NBAS | c.1099C>G n.3015C>G c.3002C>G (p.Thr1001Ser) c.294C>G c.143C>G (p.Thr48Ser) c.145C>G n.3046C>G c.2873C>G (p.Thr958Ser) c.2363C>G (p.Thr788Ser) c.803C>G (p.Thr268Ser) c.794C>G (p.Thr265Ser) n.3032C>G | |
2 | g.15402237G= | CA2490879610 | NBAS | c.1099C= n.3015C= c.3002C= (p.Thr1001=) c.294C= c.143C= (p.Thr48=) c.145C= n.3046C= c.2873C= (p.Thr958=) c.2363C= (p.Thr788=) c.803C= (p.Thr268=) c.794C= (p.Thr265=) n.3032C= | |
2 | g.15402237G>T | CA345882090 | NBAS | c.1099C>A n.3015C>A c.3002C>A (p.Thr1001Asn) c.294C>A c.143C>A (p.Thr48Asn) c.145C>A n.3046C>A c.2873C>A (p.Thr958Asn) c.2363C>A (p.Thr788Asn) c.803C>A (p.Thr268Asn) c.794C>A (p.Thr265Asn) n.3032C>A | |
2 | g.15402238T>A | CA345882093 | NBAS | c.1098A>T n.3014A>T c.3001A>T (p.Thr1001Ser) c.293A>T c.142A>T (p.Thr48Ser) c.144A>T n.3045A>T c.2872A>T (p.Thr958Ser) c.2362A>T (p.Thr788Ser) c.802A>T (p.Thr268Ser) c.793A>T (p.Thr265Ser) n.3031A>T | |
2 | g.15402238T>C | CA345882094 | NBAS | c.1098A>G n.3014A>G c.3001A>G (p.Thr1001Ala) c.293A>G c.142A>G (p.Thr48Ala) c.144A>G n.3045A>G c.2872A>G (p.Thr958Ala) c.2362A>G (p.Thr788Ala) c.802A>G (p.Thr268Ala) c.793A>G (p.Thr265Ala) n.3031A>G | gnomAD v4 |
2 | g.15402238T>G | CA345882095 | NBAS | c.1098A>C n.3014A>C c.3001A>C (p.Thr1001Pro) c.293A>C c.142A>C (p.Thr48Pro) c.144A>C n.3045A>C c.2872A>C (p.Thr958Pro) c.2362A>C (p.Thr788Pro) c.802A>C (p.Thr268Pro) c.793A>C (p.Thr265Pro) n.3031A>C | |
2 | g.15402239_15402249dup | CA531030362 | NBAS | c.1088_1098dup n.3004_3014dup c.2991_3001dup (p.Thr1001SerfsTer19) c.283_293dup c.132_142dup (p.Thr48SerfsTer19) c.134_144dup n.3035_3045dup c.2862_2872dup (p.Thr958SerfsTer19) c.2352_2362dup (p.Thr788SerfsTer19) c.792_802dup (p.Thr268SerfsTer19) c.783_793dup (p.Thr265SerfsTer19) n.3021_3031dup | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15402239A>C | CA345882098 | NBAS | c.1097T>G n.3013T>G c.3000T>G (p.Tyr1000Ter) c.292T>G c.141T>G (p.Tyr47Ter) c.143T>G n.3044T>G c.2871T>G (p.Tyr957Ter) c.2361T>G (p.Tyr787Ter) c.801T>G (p.Tyr267Ter) c.792T>G (p.Tyr264Ter) n.3030T>G | |
2 | g.15402239A>G | CA424868958 | NBAS | c.1097T>C n.3013T>C c.3000T>C (p.Tyr1000=) c.292T>C c.141T>C (p.Tyr47=) c.143T>C n.3044T>C c.2871T>C (p.Tyr957=) c.2361T>C (p.Tyr787=) c.801T>C (p.Tyr267=) c.792T>C (p.Tyr264=) n.3030T>C | gnomAD v4 |
2 | g.15402239A>T | CA345882100 | NBAS | c.1097T>A n.3013T>A c.3000T>A (p.Tyr1000Ter) c.292T>A c.141T>A (p.Tyr47Ter) c.143T>A n.3044T>A c.2871T>A (p.Tyr957Ter) c.2361T>A (p.Tyr787Ter) c.801T>A (p.Tyr267Ter) c.792T>A (p.Tyr264Ter) n.3030T>A | |
2 | g.15402240T>A | CA345882104 | NBAS | c.1096A>T n.3012A>T c.2999A>T (p.Tyr1000Phe) c.291A>T c.140A>T (p.Tyr47Phe) c.142A>T n.3043A>T c.2870A>T (p.Tyr957Phe) c.2360A>T (p.Tyr787Phe) c.800A>T (p.Tyr267Phe) c.791A>T (p.Tyr264Phe) n.3029A>T | |
2 | g.15402240T>C | CA1536196 | NBAS | c.1096A>G n.3012A>G c.2999A>G (p.Tyr1000Cys) c.291A>G c.140A>G (p.Tyr47Cys) c.142A>G n.3043A>G c.2870A>G (p.Tyr957Cys) c.2360A>G (p.Tyr787Cys) c.800A>G (p.Tyr267Cys) c.791A>G (p.Tyr264Cys) n.3029A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402240T>G | CA345882111 | NBAS | c.1096A>C n.3012A>C c.2999A>C (p.Tyr1000Ser) c.291A>C c.140A>C (p.Tyr47Ser) c.142A>C n.3043A>C c.2870A>C (p.Tyr957Ser) c.2360A>C (p.Tyr787Ser) c.800A>C (p.Tyr267Ser) c.791A>C (p.Tyr264Ser) n.3029A>C | |
2 | g.15402240T= | CA2490879611 | NBAS | c.1096A= n.3012A= c.2999A= (p.Tyr1000=) c.291A= c.140A= (p.Tyr47=) c.142A= n.3043A= c.2870A= (p.Tyr957=) c.2360A= (p.Tyr787=) c.800A= (p.Tyr267=) c.791A= (p.Tyr264=) n.3029A= | |
2 | g.15402241A= | CA2490879612 | NBAS | c.1095T= n.3011T= c.2998T= (p.Tyr1000=) c.290T= c.139T= (p.Tyr47=) c.141T= n.3042T= c.2869T= (p.Tyr957=) c.2359T= (p.Tyr787=) c.799T= (p.Tyr267=) c.790T= (p.Tyr264=) n.3028T= | |
2 | g.15402241A>C | CA345882126 | NBAS | c.1095T>G n.3011T>G c.2998T>G (p.Tyr1000Asp) c.290T>G c.139T>G (p.Tyr47Asp) c.141T>G n.3042T>G c.2869T>G (p.Tyr957Asp) c.2359T>G (p.Tyr787Asp) c.799T>G (p.Tyr267Asp) c.790T>G (p.Tyr264Asp) n.3028T>G | |
2 | g.15402241A>G | CA345882123 | NBAS | c.1095T>C n.3011T>C c.2998T>C (p.Tyr1000His) c.290T>C c.139T>C (p.Tyr47His) c.141T>C n.3042T>C c.2869T>C (p.Tyr957His) c.2359T>C (p.Tyr787His) c.799T>C (p.Tyr267His) c.790T>C (p.Tyr264His) n.3028T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15402241A>T | CA345882113 | NBAS | c.1095T>A n.3011T>A c.2998T>A (p.Tyr1000Asn) c.290T>A c.139T>A (p.Tyr47Asn) c.141T>A n.3042T>A c.2869T>A (p.Tyr957Asn) c.2359T>A (p.Tyr787Asn) c.799T>A (p.Tyr267Asn) c.790T>A (p.Tyr264Asn) n.3028T>A | |
2 | g.15402242G>A | CA424868959 | NBAS | c.1094C>T n.3010C>T c.2997C>T (p.Ile999=) c.289C>T c.138C>T (p.Ile46=) c.140C>T n.3041C>T c.2868C>T (p.Ile956=) c.2358C>T (p.Ile786=) c.798C>T (p.Ile266=) c.789C>T (p.Ile263=) n.3027C>T | |
2 | g.15402242G>C | CA1536198 | NBAS | c.1094C>G n.3010C>G c.2997C>G (p.Ile999Met) c.289C>G c.138C>G (p.Ile46Met) c.140C>G n.3041C>G c.2868C>G (p.Ile956Met) c.2358C>G (p.Ile786Met) c.798C>G (p.Ile266Met) c.789C>G (p.Ile263Met) n.3027C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402242G= | CA2490879613 | NBAS | c.1094C= n.3010C= c.2997C= (p.Ile999=) c.289C= c.138C= (p.Ile46=) c.140C= n.3041C= c.2868C= (p.Ile956=) c.2358C= (p.Ile786=) c.798C= (p.Ile266=) c.789C= (p.Ile263=) n.3027C= | |
2 | g.15402242G>T | CA424868960 | NBAS | c.1094C>A n.3010C>A c.2997C>A (p.Ile999=) c.289C>A c.138C>A (p.Ile46=) c.140C>A n.3041C>A c.2868C>A (p.Ile956=) c.2358C>A (p.Ile786=) c.798C>A (p.Ile266=) c.789C>A (p.Ile263=) n.3027C>A | ClinVar dbSNP |
2 | g.15402242_15402244delinsGAT | CA2490879614 | NBAS | c.1092_1094delinsATC n.3008_3010delinsATC c.2995_2997delinsATC (p.Ile999=) c.287_289delinsATC c.136_138delinsATC (p.Ile46=) c.138_140delinsATC n.3039_3041delinsATC c.2866_2868delinsATC (p.Ile956=) c.2356_2358delinsATC (p.Ile786=) c.796_798delinsATC (p.Ile266=) c.787_789delinsATC (p.Ile263=) n.3025_3027delinsATC | |
2 | g.15402243A>C | CA345882131 | NBAS | c.1093T>G n.3009T>G c.2996T>G (p.Ile999Ser) c.288T>G c.137T>G (p.Ile46Ser) c.139T>G n.3040T>G c.2867T>G (p.Ile956Ser) c.2357T>G (p.Ile786Ser) c.797T>G (p.Ile266Ser) c.788T>G (p.Ile263Ser) n.3026T>G | |
2 | g.15402243A>G | CA345882133 | NBAS | c.1093T>C n.3009T>C c.2996T>C (p.Ile999Thr) c.288T>C c.137T>C (p.Ile46Thr) c.139T>C n.3040T>C c.2867T>C (p.Ile956Thr) c.2357T>C (p.Ile786Thr) c.797T>C (p.Ile266Thr) c.788T>C (p.Ile263Thr) n.3026T>C | |
2 | g.15402243A>T | CA345882134 | NBAS | c.1093T>A n.3009T>A c.2996T>A (p.Ile999Asn) c.288T>A c.137T>A (p.Ile46Asn) c.139T>A n.3040T>A c.2867T>A (p.Ile956Asn) c.2357T>A (p.Ile786Asn) c.797T>A (p.Ile266Asn) c.788T>A (p.Ile263Asn) n.3026T>A | |
2 | g.15402243_15402244del | CA1536197 | NBAS | c.1092_1093del n.3008_3009del c.2995_2996del (p.Ile999LeufsTer4) c.287_288del c.136_137del (p.Ile46LeufsTer4) c.138_139del n.3039_3040del c.2866_2867del (p.Ile956LeufsTer4) c.2356_2357del (p.Ile786LeufsTer4) c.796_797del (p.Ile266LeufsTer4) c.787_788del (p.Ile263LeufsTer4) n.3025_3026del | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15402244T>A | CA345882136 | NBAS | c.1092A>T n.3008A>T c.2995A>T (p.Ile999Phe) c.287A>T c.136A>T (p.Ile46Phe) c.138A>T n.3039A>T c.2866A>T (p.Ile956Phe) c.2356A>T (p.Ile786Phe) c.796A>T (p.Ile266Phe) c.787A>T (p.Ile263Phe) n.3025A>T | |
2 | g.15402244T>C | CA345882137 | NBAS | c.1092A>G n.3008A>G c.2995A>G (p.Ile999Val) c.287A>G c.136A>G (p.Ile46Val) c.138A>G n.3039A>G c.2866A>G (p.Ile956Val) c.2356A>G (p.Ile786Val) c.796A>G (p.Ile266Val) c.787A>G (p.Ile263Val) n.3025A>G | |
2 | g.15402244T>G | CA345882138 | NBAS | c.1092A>C n.3008A>C c.2995A>C (p.Ile999Leu) c.287A>C c.136A>C (p.Ile46Leu) c.138A>C n.3039A>C c.2866A>C (p.Ile956Leu) c.2356A>C (p.Ile786Leu) c.796A>C (p.Ile266Leu) c.787A>C (p.Ile263Leu) n.3025A>C | COSMIC |
2 | g.15402245G>A | CA424868961 | NBAS | c.1091C>T n.3007C>T c.2994C>T (p.Cys998=) c.286C>T c.135C>T (p.Cys45=) c.137C>T n.3038C>T c.2865C>T (p.Cys955=) c.2355C>T (p.Cys785=) c.795C>T (p.Cys265=) c.786C>T (p.Cys262=) n.3024C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15402245G>C | CA345882139 | NBAS | c.1091C>G n.3007C>G c.2994C>G (p.Cys998Trp) c.286C>G c.135C>G (p.Cys45Trp) c.137C>G n.3038C>G c.2865C>G (p.Cys955Trp) c.2355C>G (p.Cys785Trp) c.795C>G (p.Cys265Trp) c.786C>G (p.Cys262Trp) n.3024C>G | |
2 | g.15402245G= | CA2490879615 | NBAS | c.1091C= n.3007C= c.2994C= (p.Cys998=) c.286C= c.135C= (p.Cys45=) c.137C= n.3038C= c.2865C= (p.Cys955=) c.2355C= (p.Cys785=) c.795C= (p.Cys265=) c.786C= (p.Cys262=) n.3024C= | |
2 | g.15402245G>T | CA345882141 | NBAS | c.1091C>A n.3007C>A c.2994C>A (p.Cys998Ter) c.286C>A c.135C>A (p.Cys45Ter) c.137C>A n.3038C>A c.2865C>A (p.Cys955Ter) c.2355C>A (p.Cys785Ter) c.795C>A (p.Cys265Ter) c.786C>A (p.Cys262Ter) n.3024C>A | |
2 | g.15402246C>A | CA345882154 | NBAS | c.1090G>T n.3006G>T c.2993G>T (p.Cys998Phe) c.285G>T c.134G>T (p.Cys45Phe) c.136G>T n.3037G>T c.2864G>T (p.Cys955Phe) c.2354G>T (p.Cys785Phe) c.794G>T (p.Cys265Phe) c.785G>T (p.Cys262Phe) n.3023G>T | |
2 | g.15402246C= | CA2490879616 | NBAS | c.1090G= n.3006G= c.2993G= (p.Cys998=) c.285G= c.134G= (p.Cys45=) c.136G= n.3037G= c.2864G= (p.Cys955=) c.2354G= (p.Cys785=) c.794G= (p.Cys265=) c.785G= (p.Cys262=) n.3023G= | |
2 | g.15402246C>G | CA345882156 | NBAS | c.1090G>C n.3006G>C c.2993G>C (p.Cys998Ser) c.285G>C c.134G>C (p.Cys45Ser) c.136G>C n.3037G>C c.2864G>C (p.Cys955Ser) c.2354G>C (p.Cys785Ser) c.794G>C (p.Cys265Ser) c.785G>C (p.Cys262Ser) n.3023G>C | |
2 | g.15402246C>T | CA42621737 | NBAS | c.1090G>A n.3006G>A c.2993G>A (p.Cys998Tyr) c.285G>A c.134G>A (p.Cys45Tyr) c.136G>A n.3037G>A c.2864G>A (p.Cys955Tyr) c.2354G>A (p.Cys785Tyr) c.794G>A (p.Cys265Tyr) c.785G>A (p.Cys262Tyr) n.3023G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15402247_15402250del | CA2657911718 | NBAS | c.1087_1090del n.3003_3006del c.2990_2993del (p.Glu997AlafsTer18) c.282_285del c.131_134del (p.Glu44AlafsTer18) c.133_136del n.3034_3037del c.2861_2864del (p.Glu954AlafsTer18) c.2351_2354del (p.Glu784AlafsTer18) c.791_794del (p.Glu264AlafsTer18) c.782_785del (p.Glu261AlafsTer18) n.3020_3023del | gnomAD v4 |
2 | g.15402247A= | CA2490879617 | NBAS | c.1089T= n.3005T= c.2992T= (p.Cys998=) c.284T= c.133T= (p.Cys45=) c.135T= n.3036T= c.2863T= (p.Cys955=) c.2353T= (p.Cys785=) c.793T= (p.Cys265=) c.784T= (p.Cys262=) n.3022T= | |
2 | g.15402247A>C | CA345882164 | NBAS | c.1089T>G n.3005T>G c.2992T>G (p.Cys998Gly) c.284T>G c.133T>G (p.Cys45Gly) c.135T>G n.3036T>G c.2863T>G (p.Cys955Gly) c.2353T>G (p.Cys785Gly) c.793T>G (p.Cys265Gly) c.784T>G (p.Cys262Gly) n.3022T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402247A>G | CA345882158 | NBAS | c.1089T>C n.3005T>C c.2992T>C (p.Cys998Arg) c.284T>C c.133T>C (p.Cys45Arg) c.135T>C n.3036T>C c.2863T>C (p.Cys955Arg) c.2353T>C (p.Cys785Arg) c.793T>C (p.Cys265Arg) c.784T>C (p.Cys262Arg) n.3022T>C | |
2 | g.15402247A>T | CA345882161 | NBAS | c.1089T>A n.3005T>A c.2992T>A (p.Cys998Ser) c.284T>A c.133T>A (p.Cys45Ser) c.135T>A n.3036T>A c.2863T>A (p.Cys955Ser) c.2353T>A (p.Cys785Ser) c.793T>A (p.Cys265Ser) c.784T>A (p.Cys262Ser) n.3022T>A | |
2 | g.15402248C>A | CA345882167 | NBAS | c.1088G>T n.3004G>T c.2991G>T (p.Glu997Asp) c.283G>T c.132G>T (p.Glu44Asp) c.134G>T n.3035G>T c.2862G>T (p.Glu954Asp) c.2352G>T (p.Glu784Asp) c.792G>T (p.Glu264Asp) c.783G>T (p.Glu261Asp) n.3021G>T | |
2 | g.15402248C= | CA2490879618 | NBAS | c.1088G= n.3004G= c.2991G= (p.Glu997=) c.283G= c.132G= (p.Glu44=) c.134G= n.3035G= c.2862G= (p.Glu954=) c.2352G= (p.Glu784=) c.792G= (p.Glu264=) c.783G= (p.Glu261=) n.3021G= | |
2 | g.15402248C>G | CA345882168 | NBAS | c.1088G>C n.3004G>C c.2991G>C (p.Glu997Asp) c.283G>C c.132G>C (p.Glu44Asp) c.134G>C n.3035G>C c.2862G>C (p.Glu954Asp) c.2352G>C (p.Glu784Asp) c.792G>C (p.Glu264Asp) c.783G>C (p.Glu261Asp) n.3021G>C | |
2 | g.15402248C>T | CA424868962 | NBAS | c.1088G>A n.3004G>A c.2991G>A (p.Glu997=) c.283G>A c.132G>A (p.Glu44=) c.134G>A n.3035G>A c.2862G>A (p.Glu954=) c.2352G>A (p.Glu784=) c.792G>A (p.Glu264=) c.783G>A (p.Glu261=) n.3021G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15402249T>A | CA345882172 | NBAS | c.1087A>T n.3003A>T c.2990A>T (p.Glu997Val) c.282A>T c.131A>T (p.Glu44Val) c.133A>T n.3034A>T c.2861A>T (p.Glu954Val) c.2351A>T (p.Glu784Val) c.791A>T (p.Glu264Val) c.782A>T (p.Glu261Val) n.3020A>T | gnomAD v4 |
2 | g.15402249T>C | CA345882178 | NBAS | c.1087A>G n.3003A>G c.2990A>G (p.Glu997Gly) c.282A>G c.131A>G (p.Glu44Gly) c.133A>G n.3034A>G c.2861A>G (p.Glu954Gly) c.2351A>G (p.Glu784Gly) c.791A>G (p.Glu264Gly) c.782A>G (p.Glu261Gly) n.3020A>G | |
2 | g.15402249T>G | CA1536199 | NBAS | c.1087A>C n.3003A>C c.2990A>C (p.Glu997Ala) c.282A>C c.131A>C (p.Glu44Ala) c.133A>C n.3034A>C c.2861A>C (p.Glu954Ala) c.2351A>C (p.Glu784Ala) c.791A>C (p.Glu264Ala) c.782A>C (p.Glu261Ala) n.3020A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402249T= | CA2490879619 | NBAS | c.1087A= n.3003A= c.2990A= (p.Glu997=) c.282A= c.131A= (p.Glu44=) c.133A= n.3034A= c.2861A= (p.Glu954=) c.2351A= (p.Glu784=) c.791A= (p.Glu264=) c.782A= (p.Glu261=) n.3020A= | |
2 | g.15402250C>A | CA345882182 | NBAS | c.1086G>T n.3002G>T c.2989G>T (p.Glu997Ter) c.281G>T c.130G>T (p.Glu44Ter) c.132G>T n.3033G>T c.2860G>T (p.Glu954Ter) c.2350G>T (p.Glu784Ter) c.790G>T (p.Glu264Ter) c.781G>T (p.Glu261Ter) n.3019G>T | |
2 | g.15402250C= | CA2490879620 | NBAS | c.1086G= n.3002G= c.2989G= (p.Glu997=) c.281G= c.130G= (p.Glu44=) c.132G= n.3033G= c.2860G= (p.Glu954=) c.2350G= (p.Glu784=) c.790G= (p.Glu264=) c.781G= (p.Glu261=) n.3019G= | |
2 | g.15402250C>G | CA1536200 | NBAS | c.1086G>C n.3002G>C c.2989G>C (p.Glu997Gln) c.281G>C c.130G>C (p.Glu44Gln) c.132G>C n.3033G>C c.2860G>C (p.Glu954Gln) c.2350G>C (p.Glu784Gln) c.790G>C (p.Glu264Gln) c.781G>C (p.Glu261Gln) n.3019G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402250C>T | CA345882188 | NBAS | c.1086G>A n.3002G>A c.2989G>A (p.Glu997Lys) c.281G>A c.130G>A (p.Glu44Lys) c.132G>A n.3033G>A c.2860G>A (p.Glu954Lys) c.2350G>A (p.Glu784Lys) c.790G>A (p.Glu264Lys) c.781G>A (p.Glu261Lys) n.3019G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.15402251T>A | CA424868963 | NBAS | c.1085A>T n.3001A>T c.2988A>T (p.Leu996=) c.280A>T c.129A>T (p.Leu43=) c.131A>T n.3032A>T c.2859A>T (p.Leu953=) c.2349A>T (p.Leu783=) c.789A>T (p.Leu263=) c.780A>T (p.Leu260=) n.3018A>T | |
2 | g.15402251T>C | CA1536201 | NBAS | c.1085A>G n.3001A>G c.2988A>G (p.Leu996=) c.280A>G c.129A>G (p.Leu43=) c.131A>G n.3032A>G c.2859A>G (p.Leu953=) c.2349A>G (p.Leu783=) c.789A>G (p.Leu263=) c.780A>G (p.Leu260=) n.3018A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15402251T>G | CA424868964 | NBAS | c.1085A>C n.3001A>C c.2988A>C (p.Leu996=) c.280A>C c.129A>C (p.Leu43=) c.131A>C n.3032A>C c.2859A>C (p.Leu953=) c.2349A>C (p.Leu783=) c.789A>C (p.Leu263=) c.780A>C (p.Leu260=) n.3018A>C | |
2 | g.15402251T= | CA2490879621 | NBAS | c.1085A= n.3001A= c.2988A= (p.Leu996=) c.280A= c.129A= (p.Leu43=) c.131A= n.3032A= c.2859A= (p.Leu953=) c.2349A= (p.Leu783=) c.789A= (p.Leu263=) c.780A= (p.Leu260=) n.3018A= | |
2 | g.15402252A>C | CA345882189 | NBAS | c.1084T>G n.3000T>G c.2987T>G (p.Leu996Arg) c.279T>G c.128T>G (p.Leu43Arg) c.130T>G n.3031T>G c.2858T>G (p.Leu953Arg) c.2348T>G (p.Leu783Arg) c.788T>G (p.Leu263Arg) c.779T>G (p.Leu260Arg) n.3017T>G | |
2 | g.15402252A>G | CA345882190 | NBAS | c.1084T>C n.3000T>C c.2987T>C (p.Leu996Pro) c.279T>C c.128T>C (p.Leu43Pro) c.130T>C n.3031T>C c.2858T>C (p.Leu953Pro) c.2348T>C (p.Leu783Pro) c.788T>C (p.Leu263Pro) c.779T>C (p.Leu260Pro) n.3017T>C | |
2 | g.15402252A>T | CA345882191 | NBAS | c.1084T>A n.3000T>A c.2987T>A (p.Leu996Gln) c.279T>A c.128T>A (p.Leu43Gln) c.130T>A n.3031T>A c.2858T>A (p.Leu953Gln) c.2348T>A (p.Leu783Gln) c.788T>A (p.Leu263Gln) c.779T>A (p.Leu260Gln) n.3017T>A | |
2 | g.15402253G>A | CA424868965 | NBAS | c.1083C>T n.2999C>T c.2986C>T (p.Leu996=) c.278C>T c.127C>T (p.Leu43=) c.129C>T n.3030C>T c.2857C>T (p.Leu953=) c.2347C>T (p.Leu783=) c.787C>T (p.Leu263=) c.778C>T (p.Leu260=) n.3016C>T | dbSNP |
2 | g.15402253G>C | CA345882193 | NBAS | c.1083C>G n.2999C>G c.2986C>G (p.Leu996Val) c.278C>G c.127C>G (p.Leu43Val) c.129C>G n.3030C>G c.2857C>G (p.Leu953Val) c.2347C>G (p.Leu783Val) c.787C>G (p.Leu263Val) c.778C>G (p.Leu260Val) n.3016C>G | |
2 | g.15402253G= | CA2490879622 | NBAS | c.1083C= n.2999C= c.2986C= (p.Leu996=) c.278C= c.127C= (p.Leu43=) c.129C= n.3030C= c.2857C= (p.Leu953=) c.2347C= (p.Leu783=) c.787C= (p.Leu263=) c.778C= (p.Leu260=) n.3016C= | |
2 | g.15402253G>T | CA345882199 | NBAS | c.1083C>A n.2999C>A c.2986C>A (p.Leu996Ile) c.278C>A c.127C>A (p.Leu43Ile) c.129C>A n.3030C>A c.2857C>A (p.Leu953Ile) c.2347C>A (p.Leu783Ile) c.787C>A (p.Leu263Ile) c.778C>A (p.Leu260Ile) n.3016C>A | gnomAD v4 |
2 | g.15402254T>A | CA424868966 | NBAS | c.1082A>T n.2998A>T c.2985A>T (p.Ala995=) c.277A>T c.126A>T (p.Ala42=) c.128A>T n.3029A>T c.2856A>T (p.Ala952=) c.2346A>T (p.Ala782=) c.786A>T (p.Ala262=) c.777A>T (p.Ala259=) n.3015A>T | |
2 | g.15402254T>C | CA424868967 | NBAS | c.1082A>G n.2998A>G c.2985A>G (p.Ala995=) c.277A>G c.126A>G (p.Ala42=) c.128A>G n.3029A>G c.2856A>G (p.Ala952=) c.2346A>G (p.Ala782=) c.786A>G (p.Ala262=) c.777A>G (p.Ala259=) n.3015A>G | |
2 | g.15402254T>G | CA424868968 | NBAS | c.1082A>C n.2998A>C c.2985A>C (p.Ala995=) c.277A>C c.126A>C (p.Ala42=) c.128A>C n.3029A>C c.2856A>C (p.Ala952=) c.2346A>C (p.Ala782=) c.786A>C (p.Ala262=) c.777A>C (p.Ala259=) n.3015A>C | |
2 | g.15402255G>A | CA345882202 | NBAS | c.1081C>T n.2997C>T c.2984C>T (p.Ala995Val) c.276C>T c.125C>T (p.Ala42Val) c.127C>T n.3028C>T c.2855C>T (p.Ala952Val) c.2345C>T (p.Ala782Val) c.785C>T (p.Ala262Val) c.776C>T (p.Ala259Val) n.3014C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15402255G>C | CA345882204 | NBAS | c.1081C>G n.2997C>G c.2984C>G (p.Ala995Gly) c.276C>G c.125C>G (p.Ala42Gly) c.127C>G n.3028C>G c.2855C>G (p.Ala952Gly) c.2345C>G (p.Ala782Gly) c.785C>G (p.Ala262Gly) c.776C>G (p.Ala259Gly) n.3014C>G | |
2 | g.15402255G= | CA2490879623 | NBAS | c.1081C= n.2997C= c.2984C= (p.Ala995=) c.276C= c.125C= (p.Ala42=) c.127C= n.3028C= c.2855C= (p.Ala952=) c.2345C= (p.Ala782=) c.785C= (p.Ala262=) c.776C= (p.Ala259=) n.3014C= | |
2 | g.15402255G>T | CA345882203 | NBAS | c.1081C>A n.2997C>A c.2984C>A (p.Ala995Glu) c.276C>A c.125C>A (p.Ala42Glu) c.127C>A n.3028C>A c.2855C>A (p.Ala952Glu) c.2345C>A (p.Ala782Glu) c.785C>A (p.Ala262Glu) c.776C>A (p.Ala259Glu) n.3014C>A | |
2 | g.15402256C>A | CA345882205 | NBAS | c.1080G>T n.2996G>T c.2983G>T (p.Ala995Ser) c.275G>T c.124G>T (p.Ala42Ser) c.126G>T n.3027G>T c.2854G>T (p.Ala952Ser) c.2344G>T (p.Ala782Ser) c.784G>T (p.Ala262Ser) c.775G>T (p.Ala259Ser) n.3013G>T | COSMIC |
2 | g.15402256C>G | CA345882207 | NBAS | c.1080G>C n.2996G>C c.2983G>C (p.Ala995Pro) c.275G>C c.124G>C (p.Ala42Pro) c.126G>C n.3027G>C c.2854G>C (p.Ala952Pro) c.2344G>C (p.Ala782Pro) c.784G>C (p.Ala262Pro) c.775G>C (p.Ala259Pro) n.3013G>C | |
2 | g.15402256C>T | CA345882210 | NBAS | c.1080G>A n.2996G>A c.2983G>A (p.Ala995Thr) c.275G>A c.124G>A (p.Ala42Thr) c.126G>A n.3027G>A c.2854G>A (p.Ala952Thr) c.2344G>A (p.Ala782Thr) c.784G>A (p.Ala262Thr) c.775G>A (p.Ala259Thr) n.3013G>A | |
2 | g.15402257T>A | CA424868970 | NBAS | c.1079A>T n.2995A>T c.2982A>T (p.Ile994=) c.274A>T c.123A>T (p.Ile41=) c.125A>T n.3026A>T c.2853A>T (p.Ile951=) c.2343A>T (p.Ile781=) c.783A>T (p.Ile261=) c.774A>T (p.Ile258=) n.3012A>T | |
2 | g.15402257T>C | CA345882212 | NBAS | c.1079A>G n.2995A>G c.2982A>G (p.Ile994Met) c.274A>G c.123A>G (p.Ile41Met) c.125A>G n.3026A>G c.2853A>G (p.Ile951Met) c.2343A>G (p.Ile781Met) c.783A>G (p.Ile261Met) c.774A>G (p.Ile258Met) n.3012A>G | |
2 | g.15402257T>G | CA424868969 | NBAS | c.1079A>C n.2995A>C c.2982A>C (p.Ile994=) c.274A>C c.123A>C (p.Ile41=) c.125A>C n.3026A>C c.2853A>C (p.Ile951=) c.2343A>C (p.Ile781=) c.783A>C (p.Ile261=) c.774A>C (p.Ile258=) n.3012A>C | |
2 | g.15402258A>C | CA345882219 | NBAS | c.1078T>G n.2994T>G c.2981T>G (p.Ile994Arg) c.273T>G c.122T>G (p.Ile41Arg) c.124T>G n.3025T>G c.2852T>G (p.Ile951Arg) c.2342T>G (p.Ile781Arg) c.782T>G (p.Ile261Arg) c.773T>G (p.Ile258Arg) n.3011T>G | |
2 | g.15402258A>G | CA345882221 | NBAS | c.1078T>C n.2994T>C c.2981T>C (p.Ile994Thr) c.273T>C c.122T>C (p.Ile41Thr) c.124T>C n.3025T>C c.2852T>C (p.Ile951Thr) c.2342T>C (p.Ile781Thr) c.782T>C (p.Ile261Thr) c.773T>C (p.Ile258Thr) n.3011T>C | |
2 | g.15402258A>T | CA345882224 | NBAS | c.1078T>A n.2994T>A c.2981T>A (p.Ile994Lys) c.273T>A c.122T>A (p.Ile41Lys) c.124T>A n.3025T>A c.2852T>A (p.Ile951Lys) c.2342T>A (p.Ile781Lys) c.782T>A (p.Ile261Lys) c.773T>A (p.Ile258Lys) n.3011T>A | |
2 | g.15402259T>A | CA345882228 | NBAS | c.1077A>T n.2993A>T c.2980A>T (p.Ile994Leu) c.272A>T c.121A>T (p.Ile41Leu) c.123A>T n.3024A>T c.2851A>T (p.Ile951Leu) c.2341A>T (p.Ile781Leu) c.781A>T (p.Ile261Leu) c.772A>T (p.Ile258Leu) n.3010A>T | gnomAD v4 |
2 | g.15402259T>C | CA1536202 | NBAS | c.1077A>G n.2993A>G c.2980A>G (p.Ile994Val) c.272A>G c.121A>G (p.Ile41Val) c.123A>G n.3024A>G c.2851A>G (p.Ile951Val) c.2341A>G (p.Ile781Val) c.781A>G (p.Ile261Val) c.772A>G (p.Ile258Val) n.3010A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402259T>G | CA345882232 | NBAS | c.1077A>C n.2993A>C c.2980A>C (p.Ile994Leu) c.272A>C c.121A>C (p.Ile41Leu) c.123A>C n.3024A>C c.2851A>C (p.Ile951Leu) c.2341A>C (p.Ile781Leu) c.781A>C (p.Ile261Leu) c.772A>C (p.Ile258Leu) n.3010A>C | gnomAD v4 |
2 | g.15402259T= | CA2490879624 | NBAS | c.1077A= n.2993A= c.2980A= (p.Ile994=) c.272A= c.121A= (p.Ile41=) c.123A= n.3024A= c.2851A= (p.Ile951=) c.2341A= (p.Ile781=) c.781A= (p.Ile261=) c.772A= (p.Ile258=) n.3010A= | |
2 | g.15402260T>A | CA424868973 | NBAS | c.1076A>T n.2992A>T c.2979A>T (p.Ala993=) c.271A>T c.120A>T (p.Ala40=) c.122A>T n.3023A>T c.2850A>T (p.Ala950=) c.2340A>T (p.Ala780=) c.780A>T (p.Ala260=) c.771A>T (p.Ala257=) n.3009A>T | |
2 | g.15402260T>C | CA424868971 | NBAS | c.1076A>G n.2992A>G c.2979A>G (p.Ala993=) c.271A>G c.120A>G (p.Ala40=) c.122A>G n.3023A>G c.2850A>G (p.Ala950=) c.2340A>G (p.Ala780=) c.780A>G (p.Ala260=) c.771A>G (p.Ala257=) n.3009A>G | |
2 | g.15402260T>G | CA424868972 | NBAS | c.1076A>C n.2992A>C c.2979A>C (p.Ala993=) c.271A>C c.120A>C (p.Ala40=) c.122A>C n.3023A>C c.2850A>C (p.Ala950=) c.2340A>C (p.Ala780=) c.780A>C (p.Ala260=) c.771A>C (p.Ala257=) n.3009A>C | dbSNP gnomAD v2 |
2 | g.15402260T= | CA2490879625 | NBAS | c.1076A= n.2992A= c.2979A= (p.Ala993=) c.271A= c.120A= (p.Ala40=) c.122A= n.3023A= c.2850A= (p.Ala950=) c.2340A= (p.Ala780=) c.780A= (p.Ala260=) c.771A= (p.Ala257=) n.3009A= | |
2 | g.15402261G>A | CA345882235 | NBAS | c.1075C>T n.2991C>T c.2978C>T (p.Ala993Val) c.270C>T c.119C>T (p.Ala40Val) c.121C>T n.3022C>T c.2849C>T (p.Ala950Val) c.2339C>T (p.Ala780Val) c.779C>T (p.Ala260Val) c.770C>T (p.Ala257Val) n.3008C>T | |
2 | g.15402261G>C | CA345882237 | NBAS | c.1075C>G n.2991C>G c.2978C>G (p.Ala993Gly) c.270C>G c.119C>G (p.Ala40Gly) c.121C>G n.3022C>G c.2849C>G (p.Ala950Gly) c.2339C>G (p.Ala780Gly) c.779C>G (p.Ala260Gly) c.770C>G (p.Ala257Gly) n.3008C>G | |
2 | g.15402261G>T | CA345882239 | NBAS | c.1075C>A n.2991C>A c.2978C>A (p.Ala993Glu) c.270C>A c.119C>A (p.Ala40Glu) c.121C>A n.3022C>A c.2849C>A (p.Ala950Glu) c.2339C>A (p.Ala780Glu) c.779C>A (p.Ala260Glu) c.770C>A (p.Ala257Glu) n.3008C>A | |
2 | g.15402262C>A | CA345882242 | NBAS | c.1074G>T n.2990G>T c.2977G>T (p.Ala993Ser) c.269G>T c.118G>T (p.Ala40Ser) c.120G>T n.3021G>T c.2848G>T (p.Ala950Ser) c.2338G>T (p.Ala780Ser) c.778G>T (p.Ala260Ser) c.769G>T (p.Ala257Ser) n.3007G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15402262C= | CA2490879626 | NBAS | c.1074G= n.2990G= c.2977G= (p.Ala993=) c.269G= c.118G= (p.Ala40=) c.120G= n.3021G= c.2848G= (p.Ala950=) c.2338G= (p.Ala780=) c.778G= (p.Ala260=) c.769G= (p.Ala257=) n.3007G= | |
2 | g.15402262C>G | CA345882246 | NBAS | c.1074G>C n.2990G>C c.2977G>C (p.Ala993Pro) c.269G>C c.118G>C (p.Ala40Pro) c.120G>C n.3021G>C c.2848G>C (p.Ala950Pro) c.2338G>C (p.Ala780Pro) c.778G>C (p.Ala260Pro) c.769G>C (p.Ala257Pro) n.3007G>C | |
2 | g.15402262C>T | CA345882244 | NBAS | c.1074G>A n.2990G>A c.2977G>A (p.Ala993Thr) c.269G>A c.118G>A (p.Ala40Thr) c.120G>A n.3021G>A c.2848G>A (p.Ala950Thr) c.2338G>A (p.Ala780Thr) c.778G>A (p.Ala260Thr) c.769G>A (p.Ala257Thr) n.3007G>A | gnomAD v4 |
2 | g.15402263C>A | CA345882249 | NBAS | c.1073G>T n.2989G>T c.2976G>T (p.Met992Ile) c.268G>T c.117G>T (p.Met39Ile) c.119G>T n.3020G>T c.2847G>T (p.Met949Ile) c.2337G>T (p.Met779Ile) c.777G>T (p.Met259Ile) c.768G>T (p.Met256Ile) n.3006G>T | |
2 | g.15402263C>G | CA345882252 | NBAS | c.1073G>C n.2989G>C c.2976G>C (p.Met992Ile) c.268G>C c.117G>C (p.Met39Ile) c.119G>C n.3020G>C c.2847G>C (p.Met949Ile) c.2337G>C (p.Met779Ile) c.777G>C (p.Met259Ile) c.768G>C (p.Met256Ile) n.3006G>C | |
2 | g.15402263C>T | CA345882255 | NBAS | c.1073G>A n.2989G>A c.2976G>A (p.Met992Ile) c.268G>A c.117G>A (p.Met39Ile) c.119G>A n.3020G>A c.2847G>A (p.Met949Ile) c.2337G>A (p.Met779Ile) c.777G>A (p.Met259Ile) c.768G>A (p.Met256Ile) n.3006G>A | |
2 | g.15402264A>C | CA345882265 | NBAS | c.1072T>G n.2988T>G c.2975T>G (p.Met992Arg) c.267T>G c.116T>G (p.Met39Arg) c.118T>G n.3019T>G c.2846T>G (p.Met949Arg) c.2336T>G (p.Met779Arg) c.776T>G (p.Met259Arg) c.767T>G (p.Met256Arg) n.3005T>G | |
2 | g.15402264A>G | CA345882266 | NBAS | c.1072T>C n.2988T>C c.2975T>C (p.Met992Thr) c.267T>C c.116T>C (p.Met39Thr) c.118T>C n.3019T>C c.2846T>C (p.Met949Thr) c.2336T>C (p.Met779Thr) c.776T>C (p.Met259Thr) c.767T>C (p.Met256Thr) n.3005T>C | |
2 | g.15402264A>T | CA345882268 | NBAS | c.1072T>A n.2988T>A c.2975T>A (p.Met992Lys) c.267T>A c.116T>A (p.Met39Lys) c.118T>A n.3019T>A c.2846T>A (p.Met949Lys) c.2336T>A (p.Met779Lys) c.776T>A (p.Met259Lys) c.767T>A (p.Met256Lys) n.3005T>A | |
2 | g.15402265T>A | CA345882269 | NBAS | c.1071A>T n.2987A>T c.2974A>T (p.Met992Leu) c.266A>T c.115A>T (p.Met39Leu) c.117A>T n.3018A>T c.2845A>T (p.Met949Leu) c.2335A>T (p.Met779Leu) c.775A>T (p.Met259Leu) c.766A>T (p.Met256Leu) n.3004A>T | |
2 | g.15402265T>C | CA345882271 | NBAS | c.1071A>G n.2987A>G c.2974A>G (p.Met992Val) c.266A>G c.115A>G (p.Met39Val) c.117A>G n.3018A>G c.2845A>G (p.Met949Val) c.2335A>G (p.Met779Val) c.775A>G (p.Met259Val) c.766A>G (p.Met256Val) n.3004A>G | |
2 | g.15402265T>G | CA345882274 | NBAS | c.1071A>C n.2987A>C c.2974A>C (p.Met992Leu) c.266A>C c.115A>C (p.Met39Leu) c.117A>C n.3018A>C c.2845A>C (p.Met949Leu) c.2335A>C (p.Met779Leu) c.775A>C (p.Met259Leu) c.766A>C (p.Met256Leu) n.3004A>C | |
2 | g.15402266C>A | CA424868974 | NBAS | c.1070G>T n.2986G>T c.2973G>T (p.Leu991=) c.265G>T c.114G>T (p.Leu38=) c.116G>T n.3017G>T c.2844G>T (p.Leu948=) c.2334G>T (p.Leu778=) c.774G>T (p.Leu258=) c.765G>T (p.Leu255=) n.3003G>T | |
2 | g.15402266C>G | CA424868975 | NBAS | c.1070G>C n.2986G>C c.2973G>C (p.Leu991=) c.265G>C c.114G>C (p.Leu38=) c.116G>C n.3017G>C c.2844G>C (p.Leu948=) c.2334G>C (p.Leu778=) c.774G>C (p.Leu258=) c.765G>C (p.Leu255=) n.3003G>C | |
2 | g.15402266C>T | CA424868976 | NBAS | c.1070G>A n.2986G>A c.2973G>A (p.Leu991=) c.265G>A c.114G>A (p.Leu38=) c.116G>A n.3017G>A c.2844G>A (p.Leu948=) c.2334G>A (p.Leu778=) c.774G>A (p.Leu258=) c.765G>A (p.Leu255=) n.3003G>A | |
2 | g.15402267A>C | CA345882280 | NBAS | c.1069T>G n.2985T>G c.2972T>G (p.Leu991Arg) c.264T>G c.113T>G (p.Leu38Arg) c.115T>G n.3016T>G c.2843T>G (p.Leu948Arg) c.2333T>G (p.Leu778Arg) c.773T>G (p.Leu258Arg) c.764T>G (p.Leu255Arg) n.3002T>G | |
2 | g.15402267A>G | CA345882279 | NBAS | c.1069T>C n.2985T>C c.2972T>C (p.Leu991Pro) c.264T>C c.113T>C (p.Leu38Pro) c.115T>C n.3016T>C c.2843T>C (p.Leu948Pro) c.2333T>C (p.Leu778Pro) c.773T>C (p.Leu258Pro) c.764T>C (p.Leu255Pro) n.3002T>C | |
2 | g.15402267A>T | CA345882277 | NBAS | c.1069T>A n.2985T>A c.2972T>A (p.Leu991Gln) c.264T>A c.113T>A (p.Leu38Gln) c.115T>A n.3016T>A c.2843T>A (p.Leu948Gln) c.2333T>A (p.Leu778Gln) c.773T>A (p.Leu258Gln) c.764T>A (p.Leu255Gln) n.3002T>A | |
2 | g.15402268G>A | CA424868977 | NBAS | c.1068C>T n.2984C>T c.2971C>T (p.Leu991=) c.263C>T c.112C>T (p.Leu38=) c.114C>T n.3015C>T c.2842C>T (p.Leu948=) c.2332C>T (p.Leu778=) c.772C>T (p.Leu258=) c.763C>T (p.Leu255=) n.3001C>T | |
2 | g.15402268G>C | CA345882281 | NBAS | c.1068C>G n.2984C>G c.2971C>G (p.Leu991Val) c.263C>G c.112C>G (p.Leu38Val) c.114C>G n.3015C>G c.2842C>G (p.Leu948Val) c.2332C>G (p.Leu778Val) c.772C>G (p.Leu258Val) c.763C>G (p.Leu255Val) n.3001C>G | gnomAD v4 |
2 | g.15402268G>T | CA345882282 | NBAS | c.1068C>A n.2984C>A c.2971C>A (p.Leu991Met) c.263C>A c.112C>A (p.Leu38Met) c.114C>A n.3015C>A c.2842C>A (p.Leu948Met) c.2332C>A (p.Leu778Met) c.772C>A (p.Leu258Met) c.763C>A (p.Leu255Met) n.3001C>A | |
2 | g.15402269T>A | CA345882283 | NBAS | c.1067A>T n.2983A>T c.2970A>T (p.Gln990His) c.262A>T c.111A>T (p.Gln37His) c.113A>T n.3014A>T c.2841A>T (p.Gln947His) c.2331A>T (p.Gln777His) c.771A>T (p.Gln257His) c.762A>T (p.Gln254His) n.3000A>T | |
2 | g.15402269T>C | CA424868978 | NBAS | c.1067A>G n.2983A>G c.2970A>G (p.Gln990=) c.262A>G c.111A>G (p.Gln37=) c.113A>G n.3014A>G c.2841A>G (p.Gln947=) c.2331A>G (p.Gln777=) c.771A>G (p.Gln257=) c.762A>G (p.Gln254=) n.3000A>G | |
2 | g.15402269T>G | CA345882284 | NBAS | c.1067A>C n.2983A>C c.2970A>C (p.Gln990His) c.262A>C c.111A>C (p.Gln37His) c.113A>C n.3014A>C c.2841A>C (p.Gln947His) c.2331A>C (p.Gln777His) c.771A>C (p.Gln257His) c.762A>C (p.Gln254His) n.3000A>C | |
2 | g.15402270T>A | CA345882285 | NBAS | c.1066A>T n.2982A>T c.2969A>T (p.Gln990Leu) c.261A>T c.110A>T (p.Gln37Leu) c.112A>T n.3013A>T c.2840A>T (p.Gln947Leu) c.2330A>T (p.Gln777Leu) c.770A>T (p.Gln257Leu) c.761A>T (p.Gln254Leu) n.2999A>T | |
2 | g.15402270T>C | CA345882286 | NBAS | c.1066A>G n.2982A>G c.2969A>G (p.Gln990Arg) c.261A>G c.110A>G (p.Gln37Arg) c.112A>G n.3013A>G c.2840A>G (p.Gln947Arg) c.2330A>G (p.Gln777Arg) c.770A>G (p.Gln257Arg) c.761A>G (p.Gln254Arg) n.2999A>G | COSMIC |
2 | g.15402270T>G | CA345882287 | NBAS | c.1066A>C n.2982A>C c.2969A>C (p.Gln990Pro) c.261A>C c.110A>C (p.Gln37Pro) c.112A>C n.3013A>C c.2840A>C (p.Gln947Pro) c.2330A>C (p.Gln777Pro) c.770A>C (p.Gln257Pro) c.761A>C (p.Gln254Pro) n.2999A>C | |
2 | g.15402271G>A | CA345882288 | NBAS | c.1065C>T n.2981C>T c.2968C>T (p.Gln990Ter) c.260C>T c.109C>T (p.Gln37Ter) c.111C>T n.3012C>T c.2839C>T (p.Gln947Ter) c.2329C>T (p.Gln777Ter) c.769C>T (p.Gln257Ter) c.760C>T (p.Gln254Ter) n.2998C>T | |
2 | g.15402271G>C | CA345882289 | NBAS | c.1065C>G n.2981C>G c.2968C>G (p.Gln990Glu) c.260C>G c.109C>G (p.Gln37Glu) c.111C>G n.3012C>G c.2839C>G (p.Gln947Glu) c.2329C>G (p.Gln777Glu) c.769C>G (p.Gln257Glu) c.760C>G (p.Gln254Glu) n.2998C>G | |
2 | g.15402271G>T | CA345882290 | NBAS | c.1065C>A n.2981C>A c.2968C>A (p.Gln990Lys) c.260C>A c.109C>A (p.Gln37Lys) c.111C>A n.3012C>A c.2839C>A (p.Gln947Lys) c.2329C>A (p.Gln777Lys) c.769C>A (p.Gln257Lys) c.760C>A (p.Gln254Lys) n.2998C>A | |
2 | g.15402272G>A | CA424868979 | NBAS | c.1064C>T n.2980C>T c.2967C>T (p.Asp989=) c.259C>T c.108C>T (p.Asp36=) c.110C>T n.3011C>T c.2838C>T (p.Asp946=) c.2328C>T (p.Asp776=) c.768C>T (p.Asp256=) c.759C>T (p.Asp253=) n.2997C>T | gnomAD v4 |
2 | g.15402272G>C | CA345882291 | NBAS | c.1064C>G n.2980C>G c.2967C>G (p.Asp989Glu) c.259C>G c.108C>G (p.Asp36Glu) c.110C>G n.3011C>G c.2838C>G (p.Asp946Glu) c.2328C>G (p.Asp776Glu) c.768C>G (p.Asp256Glu) c.759C>G (p.Asp253Glu) n.2997C>G | |
2 | g.15402272G>T | CA345882292 | NBAS | c.1064C>A n.2980C>A c.2967C>A (p.Asp989Glu) c.259C>A c.108C>A (p.Asp36Glu) c.110C>A n.3011C>A c.2838C>A (p.Asp946Glu) c.2328C>A (p.Asp776Glu) c.768C>A (p.Asp256Glu) c.759C>A (p.Asp253Glu) n.2997C>A | |
2 | g.15402273T>A | CA345882301 | NBAS | c.1063A>T n.2979A>T c.2966A>T (p.Asp989Val) c.258A>T c.107A>T (p.Asp36Val) c.109A>T n.3010A>T c.2837A>T (p.Asp946Val) c.2327A>T (p.Asp776Val) c.767A>T (p.Asp256Val) c.758A>T (p.Asp253Val) n.2996A>T | |
2 | g.15402273T>C | CA345882298 | NBAS | c.1063A>G n.2979A>G c.2966A>G (p.Asp989Gly) c.258A>G c.107A>G (p.Asp36Gly) c.109A>G n.3010A>G c.2837A>G (p.Asp946Gly) c.2327A>G (p.Asp776Gly) c.767A>G (p.Asp256Gly) c.758A>G (p.Asp253Gly) n.2996A>G | |
2 | g.15402273T>G | CA345882293 | NBAS | c.1063A>C n.2979A>C c.2966A>C (p.Asp989Ala) c.258A>C c.107A>C (p.Asp36Ala) c.109A>C n.3010A>C c.2837A>C (p.Asp946Ala) c.2327A>C (p.Asp776Ala) c.767A>C (p.Asp256Ala) c.758A>C (p.Asp253Ala) n.2996A>C | |
2 | g.15402274C>A | CA345882302 | NBAS | c.1062G>T n.2978G>T c.2965G>T (p.Asp989Tyr) c.257G>T c.106G>T (p.Asp36Tyr) c.108G>T n.3009G>T c.2836G>T (p.Asp946Tyr) c.2326G>T (p.Asp776Tyr) c.766G>T (p.Asp256Tyr) c.757G>T (p.Asp253Tyr) n.2995G>T | |
2 | g.15402274C>G | CA345882303 | NBAS | c.1062G>C n.2978G>C c.2965G>C (p.Asp989His) c.257G>C c.106G>C (p.Asp36His) c.108G>C n.3009G>C c.2836G>C (p.Asp946His) c.2326G>C (p.Asp776His) c.766G>C (p.Asp256His) c.757G>C (p.Asp253His) n.2995G>C | |
2 | g.15402274C>T | CA345882304 | NBAS | c.1062G>A n.2978G>A c.2965G>A (p.Asp989Asn) c.257G>A c.106G>A (p.Asp36Asn) c.108G>A n.3009G>A c.2836G>A (p.Asp946Asn) c.2326G>A (p.Asp776Asn) c.766G>A (p.Asp256Asn) c.757G>A (p.Asp253Asn) n.2995G>A | |
2 | g.15402275C>A | CA345882308 | NBAS | c.1061G>T n.2977G>T c.2964G>T (p.Gln988His) c.256G>T c.105G>T (p.Gln35His) c.107G>T n.3008G>T c.2835G>T (p.Gln945His) c.2325G>T (p.Gln775His) c.765G>T (p.Gln255His) c.756G>T (p.Gln252His) n.2994G>T | COSMIC |
2 | g.15402275C>G | CA345882311 | NBAS | c.1061G>C n.2977G>C c.2964G>C (p.Gln988His) c.256G>C c.105G>C (p.Gln35His) c.107G>C n.3008G>C c.2835G>C (p.Gln945His) c.2325G>C (p.Gln775His) c.765G>C (p.Gln255His) c.756G>C (p.Gln252His) n.2994G>C | |
2 | g.15402275C>T | CA424868980 | NBAS | c.1061G>A n.2977G>A c.2964G>A (p.Gln988=) c.256G>A c.105G>A (p.Gln35=) c.107G>A n.3008G>A c.2835G>A (p.Gln945=) c.2325G>A (p.Gln775=) c.765G>A (p.Gln255=) c.756G>A (p.Gln252=) n.2994G>A | gnomAD v4 |
2 | g.15402276T>A | CA345882324 | NBAS | c.1060A>T n.2976A>T c.2963A>T (p.Gln988Leu) c.255A>T c.104A>T (p.Gln35Leu) c.106A>T n.3007A>T c.2834A>T (p.Gln945Leu) c.2324A>T (p.Gln775Leu) c.764A>T (p.Gln255Leu) c.755A>T (p.Gln252Leu) n.2993A>T | |
2 | g.15402276T>C | CA345882338 | NBAS | c.1060A>G n.2976A>G c.2963A>G (p.Gln988Arg) c.255A>G c.104A>G (p.Gln35Arg) c.106A>G n.3007A>G c.2834A>G (p.Gln945Arg) c.2324A>G (p.Gln775Arg) c.764A>G (p.Gln255Arg) c.755A>G (p.Gln252Arg) n.2993A>G | gnomAD v4 |
2 | g.15402276T>G | CA345882348 | NBAS | c.1060A>C n.2976A>C c.2963A>C (p.Gln988Pro) c.255A>C c.104A>C (p.Gln35Pro) c.106A>C n.3007A>C c.2834A>C (p.Gln945Pro) c.2324A>C (p.Gln775Pro) c.764A>C (p.Gln255Pro) c.755A>C (p.Gln252Pro) n.2993A>C | gnomAD v4 |
2 | g.15402277G>A | CA345882350 | NBAS | c.1059C>T n.2975C>T c.2962C>T (p.Gln988Ter) c.254C>T c.103C>T (p.Gln35Ter) c.105C>T n.3006C>T c.2833C>T (p.Gln945Ter) c.2323C>T (p.Gln775Ter) c.763C>T (p.Gln255Ter) c.754C>T (p.Gln252Ter) n.2992C>T | |
2 | g.15402277G>C | CA345882352 | NBAS | c.1059C>G n.2975C>G c.2962C>G (p.Gln988Glu) c.254C>G c.103C>G (p.Gln35Glu) c.105C>G n.3006C>G c.2833C>G (p.Gln945Glu) c.2323C>G (p.Gln775Glu) c.763C>G (p.Gln255Glu) c.754C>G (p.Gln252Glu) n.2992C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.15402277G= | CA2490879627 | NBAS | c.1059C= n.2975C= c.2962C= (p.Gln988=) c.254C= c.103C= (p.Gln35=) c.105C= n.3006C= c.2833C= (p.Gln945=) c.2323C= (p.Gln775=) c.763C= (p.Gln255=) c.754C= (p.Gln252=) n.2992C= | |
2 | g.15402277G>T | CA345882358 | NBAS | c.1059C>A n.2975C>A c.2962C>A (p.Gln988Lys) c.254C>A c.103C>A (p.Gln35Lys) c.105C>A n.3006C>A c.2833C>A (p.Gln945Lys) c.2323C>A (p.Gln775Lys) c.763C>A (p.Gln255Lys) c.754C>A (p.Gln252Lys) n.2992C>A | |
2 | g.15402278A>C | CA345882360 | NBAS | c.1058T>G n.2974T>G c.2961T>G (p.Asp987Glu) c.253T>G c.102T>G (p.Asp34Glu) c.104T>G n.3005T>G c.2832T>G (p.Asp944Glu) c.2322T>G (p.Asp774Glu) c.762T>G (p.Asp254Glu) c.753T>G (p.Asp251Glu) n.2991T>G | |
2 | g.15402278A>G | CA424868981 | NBAS | c.1058T>C n.2974T>C c.2961T>C (p.Asp987=) c.253T>C c.102T>C (p.Asp34=) c.104T>C n.3005T>C c.2832T>C (p.Asp944=) c.2322T>C (p.Asp774=) c.762T>C (p.Asp254=) c.753T>C (p.Asp251=) n.2991T>C | |
2 | g.15402278A>T | CA345882363 | NBAS | c.1058T>A n.2974T>A c.2961T>A (p.Asp987Glu) c.253T>A c.102T>A (p.Asp34Glu) c.104T>A n.3005T>A c.2832T>A (p.Asp944Glu) c.2322T>A (p.Asp774Glu) c.762T>A (p.Asp254Glu) c.753T>A (p.Asp251Glu) n.2991T>A | |
2 | g.15402279T>A | CA345882371 | NBAS | c.1057A>T n.2973A>T c.2960A>T (p.Asp987Val) c.252A>T c.101A>T (p.Asp34Val) c.103A>T n.3004A>T c.2831A>T (p.Asp944Val) c.2321A>T (p.Asp774Val) c.761A>T (p.Asp254Val) c.752A>T (p.Asp251Val) n.2990A>T | |
2 | g.15402279T>C | CA345882374 | NBAS | c.1057A>G n.2973A>G c.2960A>G (p.Asp987Gly) c.252A>G c.101A>G (p.Asp34Gly) c.103A>G n.3004A>G c.2831A>G (p.Asp944Gly) c.2321A>G (p.Asp774Gly) c.761A>G (p.Asp254Gly) c.752A>G (p.Asp251Gly) n.2990A>G | |
2 | g.15402279T>G | CA1536203 | NBAS | c.1057A>C n.2973A>C c.2960A>C (p.Asp987Ala) c.252A>C c.101A>C (p.Asp34Ala) c.103A>C n.3004A>C c.2831A>C (p.Asp944Ala) c.2321A>C (p.Asp774Ala) c.761A>C (p.Asp254Ala) c.752A>C (p.Asp251Ala) n.2990A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402279T= | CA2490879628 | NBAS | c.1057A= n.2973A= c.2960A= (p.Asp987=) c.252A= c.101A= (p.Asp34=) c.103A= n.3004A= c.2831A= (p.Asp944=) c.2321A= (p.Asp774=) c.761A= (p.Asp254=) c.752A= (p.Asp251=) n.2990A= | |
2 | g.15402280C>A | CA345882385 | NBAS | c.1056G>T n.2972G>T c.2959G>T (p.Asp987Tyr) c.251G>T c.100G>T (p.Asp34Tyr) c.102G>T n.3003G>T c.2830G>T (p.Asp944Tyr) c.2320G>T (p.Asp774Tyr) c.760G>T (p.Asp254Tyr) c.751G>T (p.Asp251Tyr) n.2989G>T | gnomAD v4 |
2 | g.15402280C= | CA2490879629 | NBAS | c.1056G= n.2972G= c.2959G= (p.Asp987=) c.251G= c.100G= (p.Asp34=) c.102G= n.3003G= c.2830G= (p.Asp944=) c.2320G= (p.Asp774=) c.760G= (p.Asp254=) c.751G= (p.Asp251=) n.2989G= | |
2 | g.15402280C>G | CA345882383 | NBAS | c.1056G>C n.2972G>C c.2959G>C (p.Asp987His) c.251G>C c.100G>C (p.Asp34His) c.102G>C n.3003G>C c.2830G>C (p.Asp944His) c.2320G>C (p.Asp774His) c.760G>C (p.Asp254His) c.751G>C (p.Asp251His) n.2989G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402280C>T | CA1536204 | NBAS | c.1056G>A n.2972G>A c.2959G>A (p.Asp987Asn) c.251G>A c.100G>A (p.Asp34Asn) c.102G>A n.3003G>A c.2830G>A (p.Asp944Asn) c.2320G>A (p.Asp774Asn) c.760G>A (p.Asp254Asn) c.751G>A (p.Asp251Asn) n.2989G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.15402281A>C | CA424868982 | NBAS | c.1055T>G n.2971T>G c.2958T>G (p.Pro986=) c.250T>G c.99T>G (p.Pro33=) c.101T>G n.3002T>G c.2829T>G (p.Pro943=) c.2319T>G (p.Pro773=) c.759T>G (p.Pro253=) c.750T>G (p.Pro250=) n.2988T>G | |
2 | g.15402281A>G | CA424868983 | NBAS | c.1055T>C n.2971T>C c.2958T>C (p.Pro986=) c.250T>C c.99T>C (p.Pro33=) c.101T>C n.3002T>C c.2829T>C (p.Pro943=) c.2319T>C (p.Pro773=) c.759T>C (p.Pro253=) c.750T>C (p.Pro250=) n.2988T>C | |
2 | g.15402281A>T | CA424868984 | NBAS | c.1055T>A n.2971T>A c.2958T>A (p.Pro986=) c.250T>A c.99T>A (p.Pro33=) c.101T>A n.3002T>A c.2829T>A (p.Pro943=) c.2319T>A (p.Pro773=) c.759T>A (p.Pro253=) c.750T>A (p.Pro250=) n.2988T>A | |
2 | g.15402282G>A | CA345882390 | NBAS | c.1054C>T n.2970C>T c.2957C>T (p.Pro986Leu) c.249C>T c.98C>T (p.Pro33Leu) c.100C>T n.3001C>T c.2828C>T (p.Pro943Leu) c.2318C>T (p.Pro773Leu) c.758C>T (p.Pro253Leu) c.749C>T (p.Pro250Leu) n.2987C>T | |
2 | g.15402282G>C | CA345882395 | NBAS | c.1054C>G n.2970C>G c.2957C>G (p.Pro986Arg) c.249C>G c.98C>G (p.Pro33Arg) c.100C>G n.3001C>G c.2828C>G (p.Pro943Arg) c.2318C>G (p.Pro773Arg) c.758C>G (p.Pro253Arg) c.749C>G (p.Pro250Arg) n.2987C>G | |
2 | g.15402282G>T | CA345882392 | NBAS | c.1054C>A n.2970C>A c.2957C>A (p.Pro986His) c.249C>A c.98C>A (p.Pro33His) c.100C>A n.3001C>A c.2828C>A (p.Pro943His) c.2318C>A (p.Pro773His) c.758C>A (p.Pro253His) c.749C>A (p.Pro250His) n.2987C>A | |
2 | g.15402283G>A | CA345882398 | NBAS | c.1053C>T n.2969C>T c.2956C>T (p.Pro986Ser) c.248C>T c.97C>T (p.Pro33Ser) c.99C>T n.3000C>T c.2827C>T (p.Pro943Ser) c.2317C>T (p.Pro773Ser) c.757C>T (p.Pro253Ser) c.748C>T (p.Pro250Ser) n.2986C>T | gnomAD v4 COSMIC |
2 | g.15402283G>C | CA345882399 | NBAS | c.1053C>G n.2969C>G c.2956C>G (p.Pro986Ala) c.248C>G c.97C>G (p.Pro33Ala) c.99C>G n.3000C>G c.2827C>G (p.Pro943Ala) c.2317C>G (p.Pro773Ala) c.757C>G (p.Pro253Ala) c.748C>G (p.Pro250Ala) n.2986C>G | |
2 | g.15402283G>T | CA345882402 | NBAS | c.1053C>A n.2969C>A c.2956C>A (p.Pro986Thr) c.248C>A c.97C>A (p.Pro33Thr) c.99C>A n.3000C>A c.2827C>A (p.Pro943Thr) c.2317C>A (p.Pro773Thr) c.757C>A (p.Pro253Thr) c.748C>A (p.Pro250Thr) n.2986C>A | ClinVar dbSNP gnomAD v4 |
2 | g.15402284A>C | CA345882405 | NBAS | c.1052T>G n.2968T>G c.2955T>G (p.Ile985Met) c.247T>G c.96T>G (p.Ile32Met) c.98T>G n.2999T>G c.2826T>G (p.Ile942Met) c.2316T>G (p.Ile772Met) c.756T>G (p.Ile252Met) c.747T>G (p.Ile249Met) n.2985T>G | |
2 | g.15402284A>G | CA424868985 | NBAS | c.1052T>C n.2968T>C c.2955T>C (p.Ile985=) c.247T>C c.96T>C (p.Ile32=) c.98T>C n.2999T>C c.2826T>C (p.Ile942=) c.2316T>C (p.Ile772=) c.756T>C (p.Ile252=) c.747T>C (p.Ile249=) n.2985T>C | |
2 | g.15402284A>T | CA424868986 | NBAS | c.1052T>A n.2968T>A c.2955T>A (p.Ile985=) c.247T>A c.96T>A (p.Ile32=) c.98T>A n.2999T>A c.2826T>A (p.Ile942=) c.2316T>A (p.Ile772=) c.756T>A (p.Ile252=) c.747T>A (p.Ile249=) n.2985T>A | |
2 | g.15402285A= | CA2490879630 | NBAS | c.1051T= n.2967T= c.2954T= (p.Ile985=) c.246T= c.95T= (p.Ile32=) c.97T= n.2998T= c.2825T= (p.Ile942=) c.2315T= (p.Ile772=) c.755T= (p.Ile252=) c.746T= (p.Ile249=) n.2984T= | |
2 | g.15402285A>C | CA345882408 | NBAS | c.1051T>G n.2967T>G c.2954T>G (p.Ile985Ser) c.246T>G c.95T>G (p.Ile32Ser) c.97T>G n.2998T>G c.2825T>G (p.Ile942Ser) c.2315T>G (p.Ile772Ser) c.755T>G (p.Ile252Ser) c.746T>G (p.Ile249Ser) n.2984T>G | |
2 | g.15402285A>G | CA42621762 | NBAS | c.1051T>C n.2967T>C c.2954T>C (p.Ile985Thr) c.246T>C c.95T>C (p.Ile32Thr) c.97T>C n.2998T>C c.2825T>C (p.Ile942Thr) c.2315T>C (p.Ile772Thr) c.755T>C (p.Ile252Thr) c.746T>C (p.Ile249Thr) n.2984T>C | dbSNP COSMIC |
2 | g.15402285A>T | CA345882415 | NBAS | c.1051T>A n.2967T>A c.2954T>A (p.Ile985Asn) c.246T>A c.95T>A (p.Ile32Asn) c.97T>A n.2998T>A c.2825T>A (p.Ile942Asn) c.2315T>A (p.Ile772Asn) c.755T>A (p.Ile252Asn) c.746T>A (p.Ile249Asn) n.2984T>A | |
2 | g.15402286T>A | CA345882423 | NBAS | c.1050A>T n.2966A>T c.2953A>T (p.Ile985Phe) c.245A>T c.94A>T (p.Ile32Phe) c.96A>T n.2997A>T c.2824A>T (p.Ile942Phe) c.2314A>T (p.Ile772Phe) c.754A>T (p.Ile252Phe) c.745A>T (p.Ile249Phe) n.2983A>T | gnomAD v4 |
2 | g.15402286T>C | CA345882425 | NBAS | c.1050A>G n.2966A>G c.2953A>G (p.Ile985Val) c.245A>G c.94A>G (p.Ile32Val) c.96A>G n.2997A>G c.2824A>G (p.Ile942Val) c.2314A>G (p.Ile772Val) c.754A>G (p.Ile252Val) c.745A>G (p.Ile249Val) n.2983A>G | |
2 | g.15402286T>G | CA345882428 | NBAS | c.1050A>C n.2966A>C c.2953A>C (p.Ile985Leu) c.245A>C c.94A>C (p.Ile32Leu) c.96A>C n.2997A>C c.2824A>C (p.Ile942Leu) c.2314A>C (p.Ile772Leu) c.754A>C (p.Ile252Leu) c.745A>C (p.Ile249Leu) n.2983A>C | |
2 | g.15402287A>C | CA345882431 | NBAS | c.1049T>G n.2965T>G c.2952T>G (p.Ile984Met) c.244T>G c.93T>G (p.Ile31Met) c.95T>G n.2996T>G c.2823T>G (p.Ile941Met) c.2313T>G (p.Ile771Met) c.753T>G (p.Ile251Met) c.744T>G (p.Ile248Met) n.2982T>G | |
2 | g.15402287A>G | CA424868987 | NBAS | c.1049T>C n.2965T>C c.2952T>C (p.Ile984=) c.244T>C c.93T>C (p.Ile31=) c.95T>C n.2996T>C c.2823T>C (p.Ile941=) c.2313T>C (p.Ile771=) c.753T>C (p.Ile251=) c.744T>C (p.Ile248=) n.2982T>C | |
2 | g.15402287A>T | CA424868988 | NBAS | c.1049T>A n.2965T>A c.2952T>A (p.Ile984=) c.244T>A c.93T>A (p.Ile31=) c.95T>A n.2996T>A c.2823T>A (p.Ile941=) c.2313T>A (p.Ile771=) c.753T>A (p.Ile251=) c.744T>A (p.Ile248=) n.2982T>A | |
2 | g.15402288A= | CA2490879632 | NBAS | c.1048T= n.2964T= c.2951T= (p.Ile984=) c.243T= c.92T= (p.Ile31=) c.94T= n.2995T= c.2822T= (p.Ile941=) c.2312T= (p.Ile771=) c.752T= (p.Ile251=) c.743T= (p.Ile248=) n.2981T= | |
2 | g.15402288A>C | CA42621763 | NBAS | c.1048T>G n.2964T>G c.2951T>G (p.Ile984Ser) c.243T>G c.92T>G (p.Ile31Ser) c.94T>G n.2995T>G c.2822T>G (p.Ile941Ser) c.2312T>G (p.Ile771Ser) c.752T>G (p.Ile251Ser) c.743T>G (p.Ile248Ser) n.2981T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402288A>G | CA345882435 | NBAS | c.1048T>C n.2964T>C c.2951T>C (p.Ile984Thr) c.243T>C c.92T>C (p.Ile31Thr) c.94T>C n.2995T>C c.2822T>C (p.Ile941Thr) c.2312T>C (p.Ile771Thr) c.752T>C (p.Ile251Thr) c.743T>C (p.Ile248Thr) n.2981T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402288A>T | CA345882433 | NBAS | c.1048T>A n.2964T>A c.2951T>A (p.Ile984Asn) c.243T>A c.92T>A (p.Ile31Asn) c.94T>A n.2995T>A c.2822T>A (p.Ile941Asn) c.2312T>A (p.Ile771Asn) c.752T>A (p.Ile251Asn) c.743T>A (p.Ile248Asn) n.2981T>A | |
2 | g.15402288_15402289delinsAT | CA2490879631 | NBAS | c.1047_1048delinsAT n.2963_2964delinsAT c.2950_2951delinsAT (p.Ile984=) c.242_243delinsAT c.91_92delinsAT (p.Ile31=) c.93_94delinsAT n.2994_2995delinsAT c.2821_2822delinsAT (p.Ile941=) c.2311_2312delinsAT (p.Ile771=) c.751_752delinsAT (p.Ile251=) c.742_743delinsAT (p.Ile248=) n.2980_2981delinsAT | |
2 | g.15402289T>A | CA345882439 | NBAS | c.1047A>T n.2963A>T c.2950A>T (p.Ile984Phe) c.242A>T c.91A>T (p.Ile31Phe) c.93A>T n.2994A>T c.2821A>T (p.Ile941Phe) c.2311A>T (p.Ile771Phe) c.751A>T (p.Ile251Phe) c.742A>T (p.Ile248Phe) n.2980A>T | |
2 | g.15402289T>C | CA345882442 | NBAS | c.1047A>G n.2963A>G c.2950A>G (p.Ile984Val) c.242A>G c.91A>G (p.Ile31Val) c.93A>G n.2994A>G c.2821A>G (p.Ile941Val) c.2311A>G (p.Ile771Val) c.751A>G (p.Ile251Val) c.742A>G (p.Ile248Val) n.2980A>G | gnomAD v4 COSMIC |
2 | g.15402289T>G | CA345882444 | NBAS | c.1047A>C n.2963A>C c.2950A>C (p.Ile984Leu) c.242A>C c.91A>C (p.Ile31Leu) c.93A>C n.2994A>C c.2821A>C (p.Ile941Leu) c.2311A>C (p.Ile771Leu) c.751A>C (p.Ile251Leu) c.742A>C (p.Ile248Leu) n.2980A>C | |
2 | g.15402294dup | CA759056093 | NBAS | c.1047dup n.2963dup c.2950dup (p.Ile984AsnfsTer4) c.242dup c.91dup (p.Ile31AsnfsTer4) c.93dup n.2994dup c.2821dup (p.Ile941AsnfsTer4) c.2311dup (p.Ile771AsnfsTer4) c.751dup (p.Ile251AsnfsTer4) c.742dup (p.Ile248AsnfsTer4) n.2980dup | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15402294del | CA1536205 | NBAS | c.1047del n.2963del c.2950del (p.Ile984LeufsTer8) c.242del c.91del (p.Ile31LeufsTer8) c.93del n.2994del c.2821del (p.Ile941LeufsTer8) c.2311del (p.Ile771LeufsTer8) c.751del (p.Ile251LeufsTer8) c.742del (p.Ile248LeufsTer8) n.2980del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402290T>A | CA345882451 | NBAS | c.1046A>T n.2962A>T c.2949A>T (p.Lys983Asn) c.241A>T c.90A>T (p.Lys30Asn) c.92A>T n.2993A>T c.2820A>T (p.Lys940Asn) c.2310A>T (p.Lys770Asn) c.750A>T (p.Lys250Asn) c.741A>T (p.Lys247Asn) n.2979A>T | |
2 | g.15402290T>C | CA424868989 | NBAS | c.1046A>G n.2962A>G c.2949A>G (p.Lys983=) c.241A>G c.90A>G (p.Lys30=) c.92A>G n.2993A>G c.2820A>G (p.Lys940=) c.2310A>G (p.Lys770=) c.750A>G (p.Lys250=) c.741A>G (p.Lys247=) n.2979A>G | |
2 | g.15402290T>G | CA345882453 | NBAS | c.1046A>C n.2962A>C c.2949A>C (p.Lys983Asn) c.241A>C c.90A>C (p.Lys30Asn) c.92A>C n.2993A>C c.2820A>C (p.Lys940Asn) c.2310A>C (p.Lys770Asn) c.750A>C (p.Lys250Asn) c.741A>C (p.Lys247Asn) n.2979A>C | |
2 | g.15402291T>A | CA345882454 | NBAS | c.1045A>T n.2961A>T c.2948A>T (p.Lys983Ile) c.240A>T c.89A>T (p.Lys30Ile) c.91A>T n.2992A>T c.2819A>T (p.Lys940Ile) c.2309A>T (p.Lys770Ile) c.749A>T (p.Lys250Ile) c.740A>T (p.Lys247Ile) n.2978A>T | |
2 | g.15402291T>C | CA345882455 | NBAS | c.1045A>G n.2961A>G c.2948A>G (p.Lys983Arg) c.240A>G c.89A>G (p.Lys30Arg) c.91A>G n.2992A>G c.2819A>G (p.Lys940Arg) c.2309A>G (p.Lys770Arg) c.749A>G (p.Lys250Arg) c.740A>G (p.Lys247Arg) n.2978A>G | |
2 | g.15402291T>G | CA345882456 | NBAS | c.1045A>C n.2961A>C c.2948A>C (p.Lys983Thr) c.240A>C c.89A>C (p.Lys30Thr) c.91A>C n.2992A>C c.2819A>C (p.Lys940Thr) c.2309A>C (p.Lys770Thr) c.749A>C (p.Lys250Thr) c.740A>C (p.Lys247Thr) n.2978A>C | |
2 | g.15402292T>A | CA345882457 | NBAS | c.1044A>T n.2960A>T c.2947A>T (p.Lys983Ter) c.239A>T c.88A>T (p.Lys30Ter) c.90A>T n.2991A>T c.2818A>T (p.Lys940Ter) c.2308A>T (p.Lys770Ter) c.748A>T (p.Lys250Ter) c.739A>T (p.Lys247Ter) n.2977A>T | |
2 | g.15402292T>C | CA345882459 | NBAS | c.1044A>G n.2960A>G c.2947A>G (p.Lys983Glu) c.239A>G c.88A>G (p.Lys30Glu) c.90A>G n.2991A>G c.2818A>G (p.Lys940Glu) c.2308A>G (p.Lys770Glu) c.748A>G (p.Lys250Glu) c.739A>G (p.Lys247Glu) n.2977A>G | |
2 | g.15402292T>G | CA345882461 | NBAS | c.1044A>C n.2960A>C c.2947A>C (p.Lys983Gln) c.239A>C c.88A>C (p.Lys30Gln) c.90A>C n.2991A>C c.2818A>C (p.Lys940Gln) c.2308A>C (p.Lys770Gln) c.748A>C (p.Lys250Gln) c.739A>C (p.Lys247Gln) n.2977A>C | |
2 | g.15402293T>A | CA345882463 | NBAS | c.1043A>T n.2959A>T c.2946A>T (p.Gln982His) c.238A>T c.87A>T (p.Gln29His) c.89A>T n.2990A>T c.2817A>T (p.Gln939His) c.2307A>T (p.Gln769His) c.747A>T (p.Gln249His) c.738A>T (p.Gln246His) n.2976A>T | |
2 | g.15402293T>C | CA424868990 | NBAS | c.1043A>G n.2959A>G c.2946A>G (p.Gln982=) c.238A>G c.87A>G (p.Gln29=) c.89A>G n.2990A>G c.2817A>G (p.Gln939=) c.2307A>G (p.Gln769=) c.747A>G (p.Gln249=) c.738A>G (p.Gln246=) n.2976A>G | |
2 | g.15402293T>G | CA345882465 | NBAS | c.1043A>C n.2959A>C c.2946A>C (p.Gln982His) c.238A>C c.87A>C (p.Gln29His) c.89A>C n.2990A>C c.2817A>C (p.Gln939His) c.2307A>C (p.Gln769His) c.747A>C (p.Gln249His) c.738A>C (p.Gln246His) n.2976A>C | |
2 | g.15402294T>A | CA345882468 | NBAS | c.1042A>T n.2958A>T c.2945A>T (p.Gln982Leu) c.237A>T c.86A>T (p.Gln29Leu) c.88A>T n.2989A>T c.2816A>T (p.Gln939Leu) c.2306A>T (p.Gln769Leu) c.746A>T (p.Gln249Leu) c.737A>T (p.Gln246Leu) n.2975A>T | |
2 | g.15402294T>C | CA345882469 | NBAS | c.1042A>G n.2958A>G c.2945A>G (p.Gln982Arg) c.237A>G c.86A>G (p.Gln29Arg) c.88A>G n.2989A>G c.2816A>G (p.Gln939Arg) c.2306A>G (p.Gln769Arg) c.746A>G (p.Gln249Arg) c.737A>G (p.Gln246Arg) n.2975A>G | |
2 | g.15402294T>G | CA345882471 | NBAS | c.1042A>C n.2958A>C c.2945A>C (p.Gln982Pro) c.237A>C c.86A>C (p.Gln29Pro) c.88A>C n.2989A>C c.2816A>C (p.Gln939Pro) c.2306A>C (p.Gln769Pro) c.746A>C (p.Gln249Pro) c.737A>C (p.Gln246Pro) n.2975A>C | |
2 | g.15402295G>A | CA345882475 | NBAS | c.1041C>T n.2957C>T c.2944C>T (p.Gln982Ter) c.236C>T c.85C>T (p.Gln29Ter) c.87C>T n.2988C>T c.2815C>T (p.Gln939Ter) c.2305C>T (p.Gln769Ter) c.745C>T (p.Gln249Ter) c.736C>T (p.Gln246Ter) n.2974C>T | |
2 | g.15402295G>C | CA345882476 | NBAS | c.1041C>G n.2957C>G c.2944C>G (p.Gln982Glu) c.236C>G c.85C>G (p.Gln29Glu) c.87C>G n.2988C>G c.2815C>G (p.Gln939Glu) c.2305C>G (p.Gln769Glu) c.745C>G (p.Gln249Glu) c.736C>G (p.Gln246Glu) n.2974C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.15402295G= | CA2490879633 | NBAS | c.1041C= n.2957C= c.2944C= (p.Gln982=) c.236C= c.85C= (p.Gln29=) c.87C= n.2988C= c.2815C= (p.Gln939=) c.2305C= (p.Gln769=) c.745C= (p.Gln249=) c.736C= (p.Gln246=) n.2974C= | |
2 | g.15402295G>T | CA345882478 | NBAS | c.1041C>A n.2957C>A c.2944C>A (p.Gln982Lys) c.236C>A c.85C>A (p.Gln29Lys) c.87C>A n.2988C>A c.2815C>A (p.Gln939Lys) c.2305C>A (p.Gln769Lys) c.745C>A (p.Gln249Lys) c.736C>A (p.Gln246Lys) n.2974C>A | |
2 | g.15402296C>A | CA345882484 | NBAS | c.1040G>T n.2956G>T c.2943G>T (p.Gln981His) c.235G>T c.84G>T (p.Gln28His) c.86G>T n.2987G>T c.2814G>T (p.Gln938His) c.2304G>T (p.Gln768His) c.744G>T (p.Gln248His) c.735G>T (p.Gln245His) n.2973G>T | |
2 | g.15402296C>G | CA345882481 | NBAS | c.1040G>C n.2956G>C c.2943G>C (p.Gln981His) c.235G>C c.84G>C (p.Gln28His) c.86G>C n.2987G>C c.2814G>C (p.Gln938His) c.2304G>C (p.Gln768His) c.744G>C (p.Gln248His) c.735G>C (p.Gln245His) n.2973G>C | |
2 | g.15402296C>T | CA424868991 | NBAS | c.1040G>A n.2956G>A c.2943G>A (p.Gln981=) c.235G>A c.84G>A (p.Gln28=) c.86G>A n.2987G>A c.2814G>A (p.Gln938=) c.2304G>A (p.Gln768=) c.744G>A (p.Gln248=) c.735G>A (p.Gln245=) n.2973G>A | |
2 | g.15402297T>A | CA345882485 | NBAS | c.1039A>T n.2955A>T c.2942A>T (p.Gln981Leu) c.234A>T c.83A>T (p.Gln28Leu) c.85A>T n.2986A>T c.2813A>T (p.Gln938Leu) c.2303A>T (p.Gln768Leu) c.743A>T (p.Gln248Leu) c.734A>T (p.Gln245Leu) n.2972A>T | |
2 | g.15402297T>C | CA345882487 | NBAS | c.1039A>G n.2955A>G c.2942A>G (p.Gln981Arg) c.234A>G c.83A>G (p.Gln28Arg) c.85A>G n.2986A>G c.2813A>G (p.Gln938Arg) c.2303A>G (p.Gln768Arg) c.743A>G (p.Gln248Arg) c.734A>G (p.Gln245Arg) n.2972A>G | |
2 | g.15402297T>G | CA345882490 | NBAS | c.1039A>C n.2955A>C c.2942A>C (p.Gln981Pro) c.234A>C c.83A>C (p.Gln28Pro) c.85A>C n.2986A>C c.2813A>C (p.Gln938Pro) c.2303A>C (p.Gln768Pro) c.743A>C (p.Gln248Pro) c.734A>C (p.Gln245Pro) n.2972A>C | |
2 | g.15402298G>A | CA345882493 | NBAS | c.1038C>T n.2954C>T c.2941C>T (p.Gln981Ter) c.233C>T c.82C>T (p.Gln28Ter) c.84C>T n.2985C>T c.2812C>T (p.Gln938Ter) c.2302C>T (p.Gln768Ter) c.742C>T (p.Gln248Ter) c.733C>T (p.Gln245Ter) n.2971C>T | gnomAD v4 |
2 | g.15402298G>C | CA345882495 | NBAS | c.1038C>G n.2954C>G c.2941C>G (p.Gln981Glu) c.233C>G c.82C>G (p.Gln28Glu) c.84C>G n.2985C>G c.2812C>G (p.Gln938Glu) c.2302C>G (p.Gln768Glu) c.742C>G (p.Gln248Glu) c.733C>G (p.Gln245Glu) n.2971C>G | |
2 | g.15402298G>T | CA345882497 | NBAS | c.1038C>A n.2954C>A c.2941C>A (p.Gln981Lys) c.233C>A c.82C>A (p.Gln28Lys) c.84C>A n.2985C>A c.2812C>A (p.Gln938Lys) c.2302C>A (p.Gln768Lys) c.742C>A (p.Gln248Lys) c.733C>A (p.Gln245Lys) n.2971C>A | |
2 | g.15402299C>A | CA424868992 | NBAS | c.1037G>T n.2953G>T c.2940G>T (p.Leu980=) c.232G>T c.81G>T (p.Leu27=) c.83G>T n.2984G>T c.2811G>T (p.Leu937=) c.2301G>T (p.Leu767=) c.741G>T (p.Leu247=) c.732G>T (p.Leu244=) n.2970G>T | |
2 | g.15402299C= | CA2490879634 | NBAS | c.1037G= n.2953G= c.2940G= (p.Leu980=) c.232G= c.81G= (p.Leu27=) c.83G= n.2984G= c.2811G= (p.Leu937=) c.2301G= (p.Leu767=) c.741G= (p.Leu247=) c.732G= (p.Leu244=) n.2970G= | |
2 | g.15402299C>G | CA424868993 | NBAS | c.1037G>C n.2953G>C c.2940G>C (p.Leu980=) c.232G>C c.81G>C (p.Leu27=) c.83G>C n.2984G>C c.2811G>C (p.Leu937=) c.2301G>C (p.Leu767=) c.741G>C (p.Leu247=) c.732G>C (p.Leu244=) n.2970G>C | dbSNP gnomAD v4 |
2 | g.15402299C>T | CA424868994 | NBAS | c.1037G>A n.2953G>A c.2940G>A (p.Leu980=) c.232G>A c.81G>A (p.Leu27=) c.83G>A n.2984G>A c.2811G>A (p.Leu937=) c.2301G>A (p.Leu767=) c.741G>A (p.Leu247=) c.732G>A (p.Leu244=) n.2970G>A | |
2 | g.15402300A= | CA2490879635 | NBAS | c.1036T= n.2952T= c.2939T= (p.Leu980=) c.231T= c.80T= (p.Leu27=) c.82T= n.2983T= c.2810T= (p.Leu937=) c.2300T= (p.Leu767=) c.740T= (p.Leu247=) c.731T= (p.Leu244=) n.2969T= | |
2 | g.15402300A>C | CA345882500 | NBAS | c.1036T>G n.2952T>G c.2939T>G (p.Leu980Arg) c.231T>G c.80T>G (p.Leu27Arg) c.82T>G n.2983T>G c.2810T>G (p.Leu937Arg) c.2300T>G (p.Leu767Arg) c.740T>G (p.Leu247Arg) c.731T>G (p.Leu244Arg) n.2969T>G | |
2 | g.15402300A>G | CA345882505 | NBAS | c.1036T>C n.2952T>C c.2939T>C (p.Leu980Pro) c.231T>C c.80T>C (p.Leu27Pro) c.82T>C n.2983T>C c.2810T>C (p.Leu937Pro) c.2300T>C (p.Leu767Pro) c.740T>C (p.Leu247Pro) c.731T>C (p.Leu244Pro) n.2969T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.15402300A>T | CA345882503 | NBAS | c.1036T>A n.2952T>A c.2939T>A (p.Leu980Gln) c.231T>A c.80T>A (p.Leu27Gln) c.82T>A n.2983T>A c.2810T>A (p.Leu937Gln) c.2300T>A (p.Leu767Gln) c.740T>A (p.Leu247Gln) c.731T>A (p.Leu244Gln) n.2969T>A | gnomAD v4 |
2 | g.15402301G>A | CA424868995 | NBAS | c.1035C>T n.2951C>T c.2938C>T (p.Leu980=) c.230C>T c.79C>T (p.Leu27=) c.81C>T n.2982C>T c.2809C>T (p.Leu937=) c.2299C>T (p.Leu767=) c.739C>T (p.Leu247=) c.730C>T (p.Leu244=) n.2968C>T | gnomAD v4 |
2 | g.15402301G>C | CA345882509 | NBAS | c.1035C>G n.2951C>G c.2938C>G (p.Leu980Val) c.230C>G c.79C>G (p.Leu27Val) c.81C>G n.2982C>G c.2809C>G (p.Leu937Val) c.2299C>G (p.Leu767Val) c.739C>G (p.Leu247Val) c.730C>G (p.Leu244Val) n.2968C>G | |
2 | g.15402301G>T | CA345882512 | NBAS | c.1035C>A n.2951C>A c.2938C>A (p.Leu980Met) c.230C>A c.79C>A (p.Leu27Met) c.81C>A n.2982C>A c.2809C>A (p.Leu937Met) c.2299C>A (p.Leu767Met) c.739C>A (p.Leu247Met) c.730C>A (p.Leu244Met) n.2968C>A | |
2 | g.15402302C>A | CA345882514 | NBAS | c.1035-1G>T n.2951-1G>T c.2938-1G>T (n.2938-1G>T) c.230-1G>T c.79-1G>T (n.79-1G>T) c.81-1G>T n.2982-1G>T c.2809-1G>T (n.2809-1G>T) c.2299-1G>T (n.2299-1G>T) c.739-1G>T (n.739-1G>T) c.730-1G>T (n.730-1G>T) n.2968-1G>T | |
2 | g.15402302C= | CA2490879636 | NBAS | c.1035-1G= n.2951-1G= c.2938-1G= (n.2938-1G=) c.230-1G= c.79-1G= (n.79-1G=) c.81-1G= n.2982-1G= c.2809-1G= (n.2809-1G=) c.2299-1G= (n.2299-1G=) c.739-1G= (n.739-1G=) c.730-1G= (n.730-1G=) n.2968-1G= | |
2 | g.15402302C>G | CA1536206 | NBAS | c.1035-1G>C n.2951-1G>C c.2938-1G>C (n.2938-1G>C) c.230-1G>C c.79-1G>C (n.79-1G>C) c.81-1G>C n.2982-1G>C c.2809-1G>C (n.2809-1G>C) c.2299-1G>C (n.2299-1G>C) c.739-1G>C (n.739-1G>C) c.730-1G>C (n.730-1G>C) n.2968-1G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.15402302C>T | CA345882519 | NBAS | c.1035-1G>A n.2951-1G>A c.2938-1G>A (n.2938-1G>A) c.230-1G>A c.79-1G>A (n.79-1G>A) c.81-1G>A n.2982-1G>A c.2809-1G>A (n.2809-1G>A) c.2299-1G>A (n.2299-1G>A) c.739-1G>A (n.739-1G>A) c.730-1G>A (n.730-1G>A) n.2968-1G>A | |
2 | g.15402303T>A | CA345882523 | NBAS | c.1035-2A>T n.2951-2A>T c.2938-2A>T (n.2938-2A>T) c.230-2A>T c.79-2A>T (n.79-2A>T) c.81-2A>T n.2982-2A>T c.2809-2A>T (n.2809-2A>T) c.2299-2A>T (n.2299-2A>T) c.739-2A>T (n.739-2A>T) c.730-2A>T (n.730-2A>T) n.2968-2A>T | |
2 | g.15402303T>C | CA345882525 | NBAS | c.1035-2A>G n.2951-2A>G c.2938-2A>G (n.2938-2A>G) c.230-2A>G c.79-2A>G (n.79-2A>G) c.81-2A>G n.2982-2A>G c.2809-2A>G (n.2809-2A>G) c.2299-2A>G (n.2299-2A>G) c.739-2A>G (n.739-2A>G) c.730-2A>G (n.730-2A>G) n.2968-2A>G | gnomAD v4 |
2 | g.15402303T>G | CA345882536 | NBAS | c.1035-2A>C n.2951-2A>C c.2938-2A>C (n.2938-2A>C) c.230-2A>C c.79-2A>C (n.79-2A>C) c.81-2A>C n.2982-2A>C c.2809-2A>C (n.2809-2A>C) c.2299-2A>C (n.2299-2A>C) c.739-2A>C (n.739-2A>C) c.730-2A>C (n.730-2A>C) n.2968-2A>C | |
2 | g.15402305C>A | CA2657911719 | NBAS | c.1035-4G>T n.2951-4G>T c.2938-4G>T (n.2938-4G>T) c.230-4G>T c.79-4G>T (n.79-4G>T) c.81-4G>T n.2982-4G>T c.2809-4G>T (n.2809-4G>T) c.2299-4G>T (n.2299-4G>T) c.739-4G>T (n.739-4G>T) c.730-4G>T (n.730-4G>T) n.2968-4G>T | gnomAD v4 |
2 | g.15402306A= | CA2490879637 | NBAS | c.1035-5T= n.2951-5T= c.2938-5T= (n.2938-5T=) c.230-5T= c.79-5T= (n.79-5T=) c.81-5T= n.2982-5T= c.2809-5T= (n.2809-5T=) c.2299-5T= (n.2299-5T=) c.739-5T= (n.739-5T=) c.730-5T= (n.730-5T=) n.2968-5T= | |
2 | g.15402306A>G | CA2490879638 | NBAS | c.1035-5T>C n.2951-5T>C c.2938-5T>C (n.2938-5T>C) c.230-5T>C c.79-5T>C (n.79-5T>C) c.81-5T>C n.2982-5T>C c.2809-5T>C (n.2809-5T>C) c.2299-5T>C (n.2299-5T>C) c.739-5T>C (n.739-5T>C) c.730-5T>C (n.730-5T>C) n.2968-5T>C | dbSNP |
2 | g.15402307G>A | CA645537397 | NBAS | c.1035-6C>T n.2951-6C>T c.2938-6C>T (n.2938-6C>T) c.230-6C>T c.79-6C>T (n.79-6C>T) c.81-6C>T n.2982-6C>T c.2809-6C>T (n.2809-6C>T) c.2299-6C>T (n.2299-6C>T) c.739-6C>T (n.739-6C>T) c.730-6C>T (n.730-6C>T) n.2968-6C>T | COSMIC |
2 | g.15402307G>T | CA2500790198 | NBAS | c.1035-6C>A n.2951-6C>A c.2938-6C>A (n.2938-6C>A) c.230-6C>A c.79-6C>A (n.79-6C>A) c.81-6C>A n.2982-6C>A c.2809-6C>A (n.2809-6C>A) c.2299-6C>A (n.2299-6C>A) c.739-6C>A (n.739-6C>A) c.730-6C>A (n.730-6C>A) n.2968-6C>A | |
2 | g.15402307_15402308delinsGA | CA2490879639 | NBAS | c.1035-7_1035-6delinsTC n.2951-7_2951-6delinsTC c.2938-7_2938-6delinsTC (n.2938-7_2938-6delinsTC) c.230-7_230-6delinsTC c.79-7_79-6delinsTC (n.79-7_79-6delinsTC) c.81-7_81-6delinsTC n.2982-7_2982-6delinsTC c.2809-7_2809-6delinsTC (n.2809-7_2809-6delinsTC) c.2299-7_2299-6delinsTC (n.2299-7_2299-6delinsTC) c.739-7_739-6delinsTC (n.739-7_739-6delinsTC) c.730-7_730-6delinsTC (n.730-7_730-6delinsTC) n.2968-7_2968-6delinsTC |