Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.90404409C>A | CA390690167 | CALM1 | c.316C>A (p.Leu106Ile) c.208C>A (p.Leu70Ile) c.319C>A (p.Leu107Ile) c.188C>A (p.Thr63Asn) c.209C>A (p.Thr70Asn) n.2446C>A n.368C>A n.242C>A c.166-48C>A (n.166-48C>A) | |
14 | g.90404409C>G | CA390690168 | CALM1 | c.316C>G (p.Leu106Val) c.208C>G (p.Leu70Val) c.319C>G (p.Leu107Val) c.188C>G (p.Thr63Ser) c.209C>G (p.Thr70Ser) n.2446C>G n.368C>G n.242C>G c.166-48C>G (n.166-48C>G) | |
14 | g.90404409C>T | CA487760106 | CALM1 | c.316C>T (p.Leu106=) c.208C>T (p.Leu70=) c.319C>T (p.Leu107=) c.188C>T (p.Thr63Ile) c.209C>T (p.Thr70Ile) n.2446C>T n.368C>T n.242C>T c.166-48C>T (n.166-48C>T) | |
14 | g.90404409_90404410delinsAA | CA2579771514 | CALM1 | c.316_317delinsAA (p.Leu106Lys) c.208_209delinsAA (p.Leu70Lys) c.319_320delinsAA (p.Leu107Lys) c.188_189delinsAA (p.Thr63Lys) c.209_210delinsAA (p.Thr70Lys) n.2446_2447delinsAA n.368_369delinsAA n.242_243delinsAA c.166-48_166-47delinsAA (n.166-48_166-47delinsAA) | |
14 | g.90404409_90404410delinsAC | CA2579770749 | CALM1 | c.316_317delinsAC (p.Leu106Thr) c.208_209delinsAC (p.Leu70Thr) c.319_320delinsAC (p.Leu107Thr) c.188_189delinsAC (p.Thr63Asn) c.209_210delinsAC (p.Thr70Asn) n.2446_2447delinsAC n.368_369delinsAC n.242_243delinsAC c.166-48_166-47delinsAC (n.166-48_166-47delinsAC) | |
14 | g.90404409_90404410delinsTA | CA2579771888 | CALM1 | c.316_317delinsTA (p.Leu106Ter) c.208_209delinsTA (p.Leu70Ter) c.319_320delinsTA (p.Leu107Ter) c.188_189delinsTA (p.Thr63Ile) c.209_210delinsTA (p.Thr70Ile) n.2446_2447delinsTA n.368_369delinsTA n.242_243delinsTA c.166-48_166-47delinsTA (n.166-48_166-47delinsTA) | |
14 | g.90404409_90404410delinsTC | CA2579772284 | CALM1 | c.316_317delinsTC (p.Leu106Ser) c.208_209delinsTC (p.Leu70Ser) c.319_320delinsTC (p.Leu107Ser) c.188_189delinsTC (p.Thr63Ile) c.209_210delinsTC (p.Thr70Ile) n.2446_2447delinsTC n.368_369delinsTC n.242_243delinsTC c.166-48_166-47delinsTC (n.166-48_166-47delinsTC) | |
14 | g.90404409_90404410delinsTG | CA2579771167 | CALM1 | c.316_317delinsTG (p.Leu106Ter) c.208_209delinsTG (p.Leu70Ter) c.319_320delinsTG (p.Leu107Ter) c.188_189delinsTG (p.Thr63Met) c.209_210delinsTG (p.Thr70Met) n.2446_2447delinsTG n.368_369delinsTG n.242_243delinsTG c.166-48_166-47delinsTG (n.166-48_166-47delinsTG) | |
14 | g.90404409_90404411delinsAAT | CA2579773644 | CALM1 | c.316_318delinsAAT (p.Leu106Asn) c.208_210delinsAAT (p.Leu70Asn) c.319_321delinsAAT (p.Leu107Asn) c.188_190delinsAAT (p.Thr63_Thr64delinsLysSer) c.209_211delinsAAT (p.Thr70_Thr71delinsLysSer) n.2446_2448delinsAAT n.368_370delinsAAT n.242_244delinsAAT c.166-48_166-46delinsAAT (n.166-48_166-46delinsAAT) | |
14 | g.90404409_90404411delinsATG | CA2579770200 | CALM1 | c.316_318delinsATG (p.Leu106Met) c.208_210delinsATG (p.Leu70Met) c.319_321delinsATG (p.Leu107Met) c.188_190delinsATG (p.Thr63_Thr64delinsAsnAla) c.209_211delinsATG (p.Thr70_Thr71delinsAsnAla) n.2446_2448delinsATG n.368_370delinsATG n.242_244delinsATG c.166-48_166-46delinsATG (n.166-48_166-46delinsATG) | |
14 | g.90404409_90404411delinsATT | CA2579771668 | CALM1 | c.316_318delinsATT (p.Leu106Ile) c.208_210delinsATT (p.Leu70Ile) c.319_321delinsATT (p.Leu107Ile) c.188_190delinsATT (p.Thr63_Thr64delinsAsnSer) c.209_211delinsATT (p.Thr70_Thr71delinsAsnSer) n.2446_2448delinsATT n.368_370delinsATT n.242_244delinsATT c.166-48_166-46delinsATT (n.166-48_166-46delinsATT) | |
14 | g.90404409_90404411delinsGAT | CA2579772452 | CALM1 | c.316_318delinsGAT (p.Leu106Asp) c.208_210delinsGAT (p.Leu70Asp) c.319_321delinsGAT (p.Leu107Asp) c.188_190delinsGAT (p.Thr63_Thr64delinsArgSer) c.209_211delinsGAT (p.Thr70_Thr71delinsArgSer) n.2446_2448delinsGAT n.368_370delinsGAT n.242_244delinsGAT c.166-48_166-46delinsGAT (n.166-48_166-46delinsGAT) | |
14 | g.90404409_90404411delinsTCG | CA2579770783 | CALM1 | c.316_318delinsTCG (p.Leu106Ser) c.208_210delinsTCG (p.Leu70Ser) c.319_321delinsTCG (p.Leu107Ser) c.188_190delinsTCG (p.Thr63_Thr64delinsIleAla) c.209_211delinsTCG (p.Thr70_Thr71delinsIleAla) n.2446_2448delinsTCG n.368_370delinsTCG n.242_244delinsTCG c.166-48_166-46delinsTCG (n.166-48_166-46delinsTCG) | |
14 | g.90404409_90404411delinsTGG | CA2579771539 | CALM1 | c.316_318delinsTGG (p.Leu106Trp) c.208_210delinsTGG (p.Leu70Trp) c.319_321delinsTGG (p.Leu107Trp) c.188_190delinsTGG (p.Thr63_Thr64delinsMetAla) c.209_211delinsTGG (p.Thr70_Thr71delinsMetAla) n.2446_2448delinsTGG n.368_370delinsTGG n.242_244delinsTGG c.166-48_166-46delinsTGG (n.166-48_166-46delinsTGG) | |
14 | g.90404409_90404411delinsTGT | CA2579769989 | CALM1 | c.316_318delinsTGT (p.Leu106Cys) c.208_210delinsTGT (p.Leu70Cys) c.319_321delinsTGT (p.Leu107Cys) c.188_190delinsTGT (p.Thr63_Thr64delinsMetSer) c.209_211delinsTGT (p.Thr70_Thr71delinsMetSer) n.2446_2448delinsTGT n.368_370delinsTGT n.242_244delinsTGT c.166-48_166-46delinsTGT (n.166-48_166-46delinsTGT) | |
14 | g.90404409_90404411delinsTTG | CA2579770242 | CALM1 | c.316_318delinsTTG (p.Leu106=) c.208_210delinsTTG (p.Leu70=) c.319_321delinsTTG (p.Leu107=) c.188_190delinsTTG (p.Thr63_Thr64delinsIleAla) c.209_211delinsTTG (p.Thr70_Thr71delinsIleAla) n.2446_2448delinsTTG n.368_370delinsTTG n.242_244delinsTTG c.166-48_166-46delinsTTG (n.166-48_166-46delinsTTG) | |
14 | g.90404409_90404411delinsTTT | CA2579772052 | CALM1 | c.316_318delinsTTT (p.Leu106Phe) c.208_210delinsTTT (p.Leu70Phe) c.319_321delinsTTT (p.Leu107Phe) c.188_190delinsTTT (p.Thr63_Thr64delinsIleSer) c.209_211delinsTTT (p.Thr70_Thr71delinsIleSer) n.2446_2448delinsTTT n.368_370delinsTTT n.242_244delinsTTT c.166-48_166-46delinsTTT (n.166-48_166-46delinsTTT) | |
14 | g.90404410T>A | CA390690169 | CALM1 | c.317T>A (p.Leu106Gln) c.209T>A (p.Leu70Gln) c.320T>A (p.Leu107Gln) c.189T>A (p.Thr63=) c.210T>A (p.Thr70=) n.2447T>A n.369T>A n.243T>A c.166-47T>A (n.166-47T>A) | |
14 | g.90404410T>C | CA390690170 | CALM1 | c.317T>C (p.Leu106Pro) c.209T>C (p.Leu70Pro) c.320T>C (p.Leu107Pro) c.189T>C (p.Thr63=) c.210T>C (p.Thr70=) n.2447T>C n.369T>C n.243T>C c.166-47T>C (n.166-47T>C) | |
14 | g.90404410T>G | CA390690171 | CALM1 | c.317T>G (p.Leu106Arg) c.209T>G (p.Leu70Arg) c.320T>G (p.Leu107Arg) c.189T>G (p.Thr63=) c.210T>G (p.Thr70=) n.2447T>G n.369T>G n.243T>G c.166-47T>G (n.166-47T>G) | |
14 | g.90404410_90404411delinsAC | CA2579771688 | CALM1 | c.317_318delinsAC (p.Leu106His) c.209_210delinsAC (p.Leu70His) c.320_321delinsAC (p.Leu107His) c.189_190delinsAC (p.Thr64Pro) c.210_211delinsAC (p.Thr71Pro) n.2447_2448delinsAC n.369_370delinsAC n.243_244delinsAC c.166-47_166-46delinsAC (n.166-47_166-46delinsAC) | |
14 | g.90404410_90404411delinsAG | CA2579772069 | CALM1 | c.317_318delinsAG (p.Leu106Gln) c.209_210delinsAG (p.Leu70Gln) c.320_321delinsAG (p.Leu107Gln) c.189_190delinsAG (p.Thr64Ala) c.210_211delinsAG (p.Thr71Ala) n.2447_2448delinsAG n.369_370delinsAG n.243_244delinsAG c.166-47_166-46delinsAG (n.166-47_166-46delinsAG) | |
14 | g.90404410_90404411delinsAT | CA2579770631 | CALM1 | c.317_318delinsAT (p.Leu106His) c.209_210delinsAT (p.Leu70His) c.320_321delinsAT (p.Leu107His) c.189_190delinsAT (p.Thr64Ser) c.210_211delinsAT (p.Thr71Ser) n.2447_2448delinsAT n.369_370delinsAT n.243_244delinsAT c.166-47_166-46delinsAT (n.166-47_166-46delinsAT) | |
14 | g.90404410_90404411delinsCG | CA2579772151 | CALM1 | c.317_318delinsCG (p.Leu106Pro) c.209_210delinsCG (p.Leu70Pro) c.320_321delinsCG (p.Leu107Pro) c.189_190delinsCG (p.Thr64Ala) c.210_211delinsCG (p.Thr71Ala) n.2447_2448delinsCG n.369_370delinsCG n.243_244delinsCG c.166-47_166-46delinsCG (n.166-47_166-46delinsCG) | |
14 | g.90404410_90404411delinsCT | CA2579773927 | CALM1 | c.317_318delinsCT (p.Leu106Pro) c.209_210delinsCT (p.Leu70Pro) c.320_321delinsCT (p.Leu107Pro) c.189_190delinsCT (p.Thr64Ser) c.210_211delinsCT (p.Thr71Ser) n.2447_2448delinsCT n.369_370delinsCT n.243_244delinsCT c.166-47_166-46delinsCT (n.166-47_166-46delinsCT) | |
14 | g.90404410_90404411delinsGG | CA2579773749 | CALM1 | c.317_318delinsGG (p.Leu106Arg) c.209_210delinsGG (p.Leu70Arg) c.320_321delinsGG (p.Leu107Arg) c.189_190delinsGG (p.Thr64Ala) c.210_211delinsGG (p.Thr71Ala) n.2447_2448delinsGG n.369_370delinsGG n.243_244delinsGG c.166-47_166-46delinsGG (n.166-47_166-46delinsGG) | |
14 | g.90404410_90404411delinsGT | CA2579769926 | CALM1 | c.317_318delinsGT (p.Leu106Arg) c.209_210delinsGT (p.Leu70Arg) c.320_321delinsGT (p.Leu107Arg) c.189_190delinsGT (p.Thr64Ser) c.210_211delinsGT (p.Thr71Ser) n.2447_2448delinsGT n.369_370delinsGT n.243_244delinsGT c.166-47_166-46delinsGT (n.166-47_166-46delinsGT) | |
14 | g.90404411A= | CA2154484092 | CALM1 | c.318A= (p.Leu106=) c.210A= (p.Leu70=) c.321A= (p.Leu107=) c.190A= (p.Thr64=) c.211A= (p.Thr71=) n.2448A= n.370A= n.244A= c.166-46A= (n.166-46A=) | |
14 | g.90404411A>C | CA487760112 | CALM1 | c.318A>C (p.Leu106=) c.210A>C (p.Leu70=) c.321A>C (p.Leu107=) c.190A>C (p.Thr64Pro) c.211A>C (p.Thr71Pro) n.2448A>C n.370A>C n.244A>C c.166-46A>C (n.166-46A>C) | |
14 | g.90404411A>G | CA487760114 | CALM1 | c.318A>G (p.Leu106=) c.210A>G (p.Leu70=) c.321A>G (p.Leu107=) c.190A>G (p.Thr64Ala) c.211A>G (p.Thr71Ala) n.2448A>G n.370A>G n.244A>G c.166-46A>G (n.166-46A>G) | ClinVar |
14 | g.90404411A>T | CA487760116 | CALM1 | c.318A>T (p.Leu106=) c.210A>T (p.Leu70=) c.321A>T (p.Leu107=) c.190A>T (p.Thr64Ser) c.211A>T (p.Thr71Ser) n.2448A>T n.370A>T n.244A>T c.166-46A>T (n.166-46A>T) | dbSNP |
14 | g.90404412C>A | CA390690172 | CALM1 | c.319C>A (p.Arg107Ser) c.211C>A (p.Arg71Ser) c.322C>A (p.Arg108Ser) c.191C>A (p.Thr64Lys) c.212C>A (p.Thr71Lys) n.2449C>A n.371C>A n.245C>A c.166-45C>A (n.166-45C>A) | |
14 | g.90404412C= | CA2154484097 | CALM1 | c.319C= (p.Arg107=) c.211C= (p.Arg71=) c.322C= (p.Arg108=) c.191C= (p.Thr64=) c.212C= (p.Thr71=) n.2449C= n.371C= n.245C= c.166-45C= (n.166-45C=) | |
14 | g.90404412C>G | CA390690173 | CALM1 | c.319C>G (p.Arg107Gly) c.211C>G (p.Arg71Gly) c.322C>G (p.Arg108Gly) c.191C>G (p.Thr64Arg) c.212C>G (p.Thr71Arg) n.2449C>G n.371C>G n.245C>G c.166-45C>G (n.166-45C>G) | |
14 | g.90404412C>T | CA7305796 | CALM1 | c.319C>T (p.Arg107Cys) c.211C>T (p.Arg71Cys) c.322C>T (p.Arg108Cys) c.191C>T (p.Thr64Met) c.212C>T (p.Thr71Met) n.2449C>T n.371C>T n.245C>T c.166-45C>T (n.166-45C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.90404412_90404413delinsAA | CA2579773956 | CALM1 | c.319_320delinsAA (p.Arg107Asn) c.211_212delinsAA (p.Arg71Asn) c.322_323delinsAA (p.Arg108Asn) c.191_192delinsAA (p.Thr64Lys) c.212_213delinsAA (p.Thr71Lys) n.2449_2450delinsAA n.371_372delinsAA n.245_246delinsAA c.166-45_166-44delinsAA (n.166-45_166-44delinsAA) | |
14 | g.90404412_90404413delinsAC | CA2579770363 | CALM1 | c.319_320delinsAC (p.Arg107Thr) c.211_212delinsAC (p.Arg71Thr) c.322_323delinsAC (p.Arg108Thr) c.191_192delinsAC (p.Thr64Asn) c.212_213delinsAC (p.Thr71Asn) n.2449_2450delinsAC n.371_372delinsAC n.245_246delinsAC c.166-45_166-44delinsAC (n.166-45_166-44delinsAC) | |
14 | g.90404412_90404413delinsAT | CA2579771719 | CALM1 | c.319_320delinsAT (p.Arg107Ile) c.211_212delinsAT (p.Arg71Ile) c.322_323delinsAT (p.Arg108Ile) c.191_192delinsAT (p.Thr64Asn) c.212_213delinsAT (p.Thr71Asn) n.2449_2450delinsAT n.371_372delinsAT n.245_246delinsAT c.166-45_166-44delinsAT (n.166-45_166-44delinsAT) | |
14 | g.90404412_90404413delinsGA | CA2579773584 | CALM1 | c.319_320delinsGA (p.Arg107Asp) c.211_212delinsGA (p.Arg71Asp) c.322_323delinsGA (p.Arg108Asp) c.191_192delinsGA (p.Thr64Arg) c.212_213delinsGA (p.Thr71Arg) n.2449_2450delinsGA n.371_372delinsGA n.245_246delinsGA c.166-45_166-44delinsGA (n.166-45_166-44delinsGA) | |
14 | g.90404412_90404413delinsGC | CA2579773879 | CALM1 | c.319_320delinsGC (p.Arg107Ala) c.211_212delinsGC (p.Arg71Ala) c.322_323delinsGC (p.Arg108Ala) c.191_192delinsGC (p.Thr64Ser) c.212_213delinsGC (p.Thr71Ser) n.2449_2450delinsGC n.371_372delinsGC n.245_246delinsGC c.166-45_166-44delinsGC (n.166-45_166-44delinsGC) | |
14 | g.90404412_90404413delinsGT | CA2579773758 | CALM1 | c.319_320delinsGT (p.Arg107Val) c.211_212delinsGT (p.Arg71Val) c.322_323delinsGT (p.Arg108Val) c.191_192delinsGT (p.Thr64Ser) c.212_213delinsGT (p.Thr71Ser) n.2449_2450delinsGT n.371_372delinsGT n.245_246delinsGT c.166-45_166-44delinsGT (n.166-45_166-44delinsGT) | |
14 | g.90404412_90404413delinsTA | CA2579771995 | CALM1 | c.319_320delinsTA (p.Arg107Tyr) c.211_212delinsTA (p.Arg71Tyr) c.322_323delinsTA (p.Arg108Tyr) c.191_192delinsTA (p.Thr64Ile) c.212_213delinsTA (p.Thr71Ile) n.2449_2450delinsTA n.371_372delinsTA n.245_246delinsTA c.166-45_166-44delinsTA (n.166-45_166-44delinsTA) | |
14 | g.90404412_90404413delinsTC | CA2579769995 | CALM1 | c.319_320delinsTC (p.Arg107Ser) c.211_212delinsTC (p.Arg71Ser) c.322_323delinsTC (p.Arg108Ser) c.191_192delinsTC (p.Thr64Ile) c.212_213delinsTC (p.Thr71Ile) n.2449_2450delinsTC n.371_372delinsTC n.245_246delinsTC c.166-45_166-44delinsTC (n.166-45_166-44delinsTC) | |
14 | g.90404412_90404413delinsTT | CA2579771706 | CALM1 | c.319_320delinsTT (p.Arg107Phe) c.211_212delinsTT (p.Arg71Phe) c.322_323delinsTT (p.Arg108Phe) c.191_192delinsTT (p.Thr64Ile) c.212_213delinsTT (p.Thr71Ile) n.2449_2450delinsTT n.371_372delinsTT n.245_246delinsTT c.166-45_166-44delinsTT (n.166-45_166-44delinsTT) | |
14 | g.90404412_90404414delinsAAG | CA2579771603 | CALM1 | c.319_321delinsAAG (p.Arg107Lys) c.211_213delinsAAG (p.Arg71Lys) c.322_324delinsAAG (p.Arg108Lys) c.191_193delinsAAG (p.Thr64_Ser65delinsLysAla) c.212_214delinsAAG (p.Thr71_Ser72delinsLysAla) n.2449_2451delinsAAG n.371_373delinsAAG n.245_247delinsAAG c.166-45_166-43delinsAAG (n.166-45_166-43delinsAAG) | |
14 | g.90404412_90404414delinsAGA | CA2579770984 | CALM1 | c.319_321delinsAGA (p.Arg107=) c.211_213delinsAGA (p.Arg71=) c.322_324delinsAGA (p.Arg108=) c.191_193delinsAGA (p.Thr64_Ser65delinsLysThr) c.212_214delinsAGA (p.Thr71_Ser72delinsLysThr) n.2449_2451delinsAGA n.371_373delinsAGA n.245_247delinsAGA c.166-45_166-43delinsAGA (n.166-45_166-43delinsAGA) | |
14 | g.90404412_90404414delinsAGC | CA2579772432 | CALM1 | c.319_321delinsAGC (p.Arg107Ser) c.211_213delinsAGC (p.Arg71Ser) c.322_324delinsAGC (p.Arg108Ser) c.191_193delinsAGC (p.Thr64_Ser65delinsLysPro) c.212_214delinsAGC (p.Thr71_Ser72delinsLysPro) n.2449_2451delinsAGC n.371_373delinsAGC n.245_247delinsAGC c.166-45_166-43delinsAGC (n.166-45_166-43delinsAGC) | |
14 | g.90404412_90404414delinsAGG | CA2579770433 | CALM1 | c.319_321delinsAGG (p.Arg107=) c.211_213delinsAGG (p.Arg71=) c.322_324delinsAGG (p.Arg108=) c.191_193delinsAGG (p.Thr64_Ser65delinsLysAla) c.212_214delinsAGG (p.Thr71_Ser72delinsLysAla) n.2449_2451delinsAGG n.371_373delinsAGG n.245_247delinsAGG c.166-45_166-43delinsAGG (n.166-45_166-43delinsAGG) | |
14 | g.90404412_90404414delinsATG | CA2579771349 | CALM1 | c.319_321delinsATG (p.Arg107Met) c.211_213delinsATG (p.Arg71Met) c.322_324delinsATG (p.Arg108Met) c.191_193delinsATG (p.Thr64_Ser65delinsAsnAla) c.212_214delinsATG (p.Thr71_Ser72delinsAsnAla) n.2449_2451delinsATG n.371_373delinsATG n.245_247delinsATG c.166-45_166-43delinsATG (n.166-45_166-43delinsATG) | |
14 | g.90404412_90404414delinsGAG | CA2579774260 | CALM1 | c.319_321delinsGAG (p.Arg107Glu) c.211_213delinsGAG (p.Arg71Glu) c.322_324delinsGAG (p.Arg108Glu) c.191_193delinsGAG (p.Thr64_Ser65delinsArgAla) c.212_214delinsGAG (p.Thr71_Ser72delinsArgAla) n.2449_2451delinsGAG n.371_373delinsGAG n.245_247delinsGAG c.166-45_166-43delinsGAG (n.166-45_166-43delinsGAG) | |
14 | g.90404412_90404414delinsGGG | CA2579772421 | CALM1 | c.319_321delinsGGG (p.Arg107Gly) c.211_213delinsGGG (p.Arg71Gly) c.322_324delinsGGG (p.Arg108Gly) c.191_193delinsGGG (p.Thr64_Ser65delinsArgAla) c.212_214delinsGGG (p.Thr71_Ser72delinsArgAla) n.2449_2451delinsGGG n.371_373delinsGGG n.245_247delinsGGG c.166-45_166-43delinsGGG (n.166-45_166-43delinsGGG) | |
14 | g.90404412_90404414delinsTAG | CA2579771377 | CALM1 | c.319_321delinsTAG (p.Arg107Ter) c.211_213delinsTAG (p.Arg71Ter) c.322_324delinsTAG (p.Arg108Ter) c.191_193delinsTAG (p.Thr64_Ser65delinsIleAla) c.212_214delinsTAG (p.Thr71_Ser72delinsIleAla) n.2449_2451delinsTAG n.371_373delinsTAG n.245_247delinsTAG c.166-45_166-43delinsTAG (n.166-45_166-43delinsTAG) | |
14 | g.90404412_90404414delinsTGA | CA2579770044 | CALM1 | c.319_321delinsTGA (p.Arg107Ter) c.211_213delinsTGA (p.Arg71Ter) c.322_324delinsTGA (p.Arg108Ter) c.191_193delinsTGA (p.Thr64_Ser65delinsMetThr) c.212_214delinsTGA (p.Thr71_Ser72delinsMetThr) n.2449_2451delinsTGA n.371_373delinsTGA n.245_247delinsTGA c.166-45_166-43delinsTGA (n.166-45_166-43delinsTGA) | |
14 | g.90404412_90404414delinsTGC | CA2579771469 | CALM1 | c.319_321delinsTGC (p.Arg107Cys) c.211_213delinsTGC (p.Arg71Cys) c.322_324delinsTGC (p.Arg108Cys) c.191_193delinsTGC (p.Thr64_Ser65delinsMetPro) c.212_214delinsTGC (p.Thr71_Ser72delinsMetPro) n.2449_2451delinsTGC n.371_373delinsTGC n.245_247delinsTGC c.166-45_166-43delinsTGC (n.166-45_166-43delinsTGC) | |
14 | g.90404412_90404414delinsTGG | CA2579770519 | CALM1 | c.319_321delinsTGG (p.Arg107Trp) c.211_213delinsTGG (p.Arg71Trp) c.322_324delinsTGG (p.Arg108Trp) c.191_193delinsTGG (p.Thr64_Ser65delinsMetAla) c.212_214delinsTGG (p.Thr71_Ser72delinsMetAla) n.2449_2451delinsTGG n.371_373delinsTGG n.245_247delinsTGG c.166-45_166-43delinsTGG (n.166-45_166-43delinsTGG) | |
14 | g.90404412_90404414delinsTTG | CA2579773951 | CALM1 | c.319_321delinsTTG (p.Arg107Leu) c.211_213delinsTTG (p.Arg71Leu) c.322_324delinsTTG (p.Arg108Leu) c.191_193delinsTTG (p.Thr64_Ser65delinsIleAla) c.212_214delinsTTG (p.Thr71_Ser72delinsIleAla) n.2449_2451delinsTTG n.371_373delinsTTG n.245_247delinsTTG c.166-45_166-43delinsTTG (n.166-45_166-43delinsTTG) | |
14 | g.90404412_90404413insA | CA2536575193 | CALM1 | c.319_320insA (p.Arg107GlnfsTer14) c.211_212insA (p.Arg71GlnfsTer14) c.322_323insA (p.Arg108GlnfsTer14) c.191_192insA (p.Ser65ValfsTer4) c.212_213insA (p.Ser72ValfsTer4) n.2449_2450insA n.371_372insA n.245_246insA c.166-45_166-44insA (n.166-45_166-44insA) | |
14 | g.90404413G>A | CA390690176 | CALM1 | c.320G>A (p.Arg107His) c.212G>A (p.Arg71His) c.323G>A (p.Arg108His) c.192G>A (p.Thr64=) c.213G>A (p.Thr71=) n.2450G>A n.372G>A n.246G>A c.166-44G>A (n.166-44G>A) | COSMIC |
14 | g.90404413G>C | CA390690175 | CALM1 | c.320G>C (p.Arg107Pro) c.212G>C (p.Arg71Pro) c.323G>C (p.Arg108Pro) c.192G>C (p.Thr64=) c.213G>C (p.Thr71=) n.2450G>C n.372G>C n.246G>C c.166-44G>C (n.166-44G>C) | |
14 | g.90404413G>T | CA390690174 | CALM1 | c.320G>T (p.Arg107Leu) c.212G>T (p.Arg71Leu) c.323G>T (p.Arg108Leu) c.192G>T (p.Thr64=) c.213G>T (p.Thr71=) n.2450G>T n.372G>T n.246G>T c.166-44G>T (n.166-44G>T) | |
14 | g.90404413_90404414delinsAA | CA2579772233 | CALM1 | c.320_321delinsAA (p.Arg107Gln) c.212_213delinsAA (p.Arg71Gln) c.323_324delinsAA (p.Arg108Gln) c.192_193delinsAA (p.Ser65Thr) c.213_214delinsAA (p.Ser72Thr) n.2450_2451delinsAA n.372_373delinsAA n.246_247delinsAA c.166-44_166-43delinsAA (n.166-44_166-43delinsAA) | |
14 | g.90404413_90404414delinsAC | CA2579772648 | CALM1 | c.320_321delinsAC (p.Arg107His) c.212_213delinsAC (p.Arg71His) c.323_324delinsAC (p.Arg108His) c.192_193delinsAC (p.Ser65Pro) c.213_214delinsAC (p.Ser72Pro) n.2450_2451delinsAC n.372_373delinsAC n.246_247delinsAC c.166-44_166-43delinsAC (n.166-44_166-43delinsAC) | |
14 | g.90404413_90404414delinsAG | CA2579771243 | CALM1 | c.320_321delinsAG (p.Arg107Gln) c.212_213delinsAG (p.Arg71Gln) c.323_324delinsAG (p.Arg108Gln) c.192_193delinsAG (p.Ser65Ala) c.213_214delinsAG (p.Ser72Ala) n.2450_2451delinsAG n.372_373delinsAG n.246_247delinsAG c.166-44_166-43delinsAG (n.166-44_166-43delinsAG) | |
14 | g.90404413_90404414delinsCG | CA2579772031 | CALM1 | c.320_321delinsCG (p.Arg107Pro) c.212_213delinsCG (p.Arg71Pro) c.323_324delinsCG (p.Arg108Pro) c.192_193delinsCG (p.Ser65Ala) c.213_214delinsCG (p.Ser72Ala) n.2450_2451delinsCG n.372_373delinsCG n.246_247delinsCG c.166-44_166-43delinsCG (n.166-44_166-43delinsCG) | |
14 | g.90404413_90404414delinsTA | CA2579770080 | CALM1 | c.320_321delinsTA (p.Arg107Leu) c.212_213delinsTA (p.Arg71Leu) c.323_324delinsTA (p.Arg108Leu) c.192_193delinsTA (p.Ser65Thr) c.213_214delinsTA (p.Ser72Thr) n.2450_2451delinsTA n.372_373delinsTA n.246_247delinsTA c.166-44_166-43delinsTA (n.166-44_166-43delinsTA) | |
14 | g.90404413_90404414delinsTC | CA2579770052 | CALM1 | c.320_321delinsTC (p.Arg107Leu) c.212_213delinsTC (p.Arg71Leu) c.323_324delinsTC (p.Arg108Leu) c.192_193delinsTC (p.Ser65Pro) c.213_214delinsTC (p.Ser72Pro) n.2450_2451delinsTC n.372_373delinsTC n.246_247delinsTC c.166-44_166-43delinsTC (n.166-44_166-43delinsTC) | |
14 | g.90404413_90404414delinsTG | CA2579773691 | CALM1 | c.320_321delinsTG (p.Arg107Leu) c.212_213delinsTG (p.Arg71Leu) c.323_324delinsTG (p.Arg108Leu) c.192_193delinsTG (p.Ser65Ala) c.213_214delinsTG (p.Ser72Ala) n.2450_2451delinsTG n.372_373delinsTG n.246_247delinsTG c.166-44_166-43delinsTG (n.166-44_166-43delinsTG) | |
14 | g.90404414T>A | CA487760124 | CALM1 | c.321T>A (p.Arg107=) c.213T>A (p.Arg71=) c.324T>A (p.Arg108=) c.193T>A (p.Ser65Thr) c.214T>A (p.Ser72Thr) n.2451T>A n.373T>A n.247T>A c.166-43T>A (n.166-43T>A) | |
14 | g.90404414T>C | CA487760125 | CALM1 | c.321T>C (p.Arg107=) c.213T>C (p.Arg71=) c.324T>C (p.Arg108=) c.193T>C (p.Ser65Pro) c.214T>C (p.Ser72Pro) n.2451T>C n.373T>C n.247T>C c.166-43T>C (n.166-43T>C) | dbSNP |
14 | g.90404414T>G | CA487760127 | CALM1 | c.321T>G (p.Arg107=) c.213T>G (p.Arg71=) c.324T>G (p.Arg108=) c.193T>G (p.Ser65Ala) c.214T>G (p.Ser72Ala) n.2451T>G n.373T>G n.247T>G c.166-43T>G (n.166-43T>G) | |
14 | g.90404414T= | CA2154484102 | CALM1 | c.321T= (p.Arg107=) c.213T= (p.Arg71=) c.324T= (p.Arg108=) c.193T= (p.Ser65=) c.214T= (p.Ser72=) n.2451T= n.373T= n.247T= c.166-43T= (n.166-43T=) | |
14 | g.90404415C>A | CA390690177 | CALM1 | c.322C>A (p.His108Asn) c.214C>A (p.His72Asn) c.325C>A (p.His109Asn) c.194C>A (p.Ser65Ter) c.215C>A (p.Ser72Ter) n.2452C>A n.374C>A n.248C>A c.166-42C>A (n.166-42C>A) | |
14 | g.90404415C>G | CA390690178 | CALM1 | c.322C>G (p.His108Asp) c.214C>G (p.His72Asp) c.325C>G (p.His109Asp) c.194C>G (p.Ser65Ter) c.215C>G (p.Ser72Ter) n.2452C>G n.374C>G n.248C>G c.166-42C>G (n.166-42C>G) | ClinVar dbSNP |
14 | g.90404415C>T | CA390690179 | CALM1 | c.322C>T (p.His108Tyr) c.214C>T (p.His72Tyr) c.325C>T (p.His109Tyr) c.194C>T (p.Ser65Leu) c.215C>T (p.Ser72Leu) n.2452C>T n.374C>T n.248C>T c.166-42C>T (n.166-42C>T) | |
14 | g.90404415_90404416delinsAG | CA2579774205 | CALM1 | c.322_323delinsAG (p.His108Ser) c.214_215delinsAG (p.His72Ser) c.325_326delinsAG (p.His109Ser) c.194_195delinsAG (p.Ser65Ter) c.215_216delinsAG (p.Ser72Ter) n.2452_2453delinsAG n.374_375delinsAG n.248_249delinsAG c.166-42_166-41delinsAG (n.166-42_166-41delinsAG) | |
14 | g.90404415_90404416delinsAT | CA2579770042 | CALM1 | c.322_323delinsAT (p.His108Ile) c.214_215delinsAT (p.His72Ile) c.325_326delinsAT (p.His109Ile) c.194_195delinsAT (p.Ser65Tyr) c.215_216delinsAT (p.Ser72Tyr) n.2452_2453delinsAT n.374_375delinsAT n.248_249delinsAT c.166-42_166-41delinsAT (n.166-42_166-41delinsAT) | |
14 | g.90404415_90404416delinsGC | CA2579770062 | CALM1 | c.322_323delinsGC (p.His108Ala) c.214_215delinsGC (p.His72Ala) c.325_326delinsGC (p.His109Ala) c.194_195delinsGC (p.Ser65Cys) c.215_216delinsGC (p.Ser72Cys) n.2452_2453delinsGC n.374_375delinsGC n.248_249delinsGC c.166-42_166-41delinsGC (n.166-42_166-41delinsGC) | |
14 | g.90404415_90404416delinsGG | CA2579772211 | CALM1 | c.322_323delinsGG (p.His108Gly) c.214_215delinsGG (p.His72Gly) c.325_326delinsGG (p.His109Gly) c.194_195delinsGG (p.Ser65Trp) c.215_216delinsGG (p.Ser72Trp) n.2452_2453delinsGG n.374_375delinsGG n.248_249delinsGG c.166-42_166-41delinsGG (n.166-42_166-41delinsGG) | |
14 | g.90404415_90404416delinsTC | CA2579771283 | CALM1 | c.322_323delinsTC (p.His108Ser) c.214_215delinsTC (p.His72Ser) c.325_326delinsTC (p.His109Ser) c.194_195delinsTC (p.Ser65Phe) c.215_216delinsTC (p.Ser72Phe) n.2452_2453delinsTC n.374_375delinsTC n.248_249delinsTC c.166-42_166-41delinsTC (n.166-42_166-41delinsTC) | |
14 | g.90404415_90404416delinsTG | CA2579773482 | CALM1 | c.322_323delinsTG (p.His108Cys) c.214_215delinsTG (p.His72Cys) c.325_326delinsTG (p.His109Cys) c.194_195delinsTG (p.Ser65Leu) c.215_216delinsTG (p.Ser72Leu) n.2452_2453delinsTG n.374_375delinsTG n.248_249delinsTG c.166-42_166-41delinsTG (n.166-42_166-41delinsTG) | |
14 | g.90404415_90404416delinsTT | CA2579773655 | CALM1 | c.322_323delinsTT (p.His108Phe) c.214_215delinsTT (p.His72Phe) c.325_326delinsTT (p.His109Phe) c.194_195delinsTT (p.Ser65Phe) c.215_216delinsTT (p.Ser72Phe) n.2452_2453delinsTT n.374_375delinsTT n.248_249delinsTT c.166-42_166-41delinsTT (n.166-42_166-41delinsTT) | |
14 | g.90404415_90404417delinsAAG | CA2579771634 | CALM1 | c.322_324delinsAAG (p.His108Lys) c.214_216delinsAAG (p.His72Lys) c.325_327delinsAAG (p.His109Lys) c.194_196delinsAAG (p.Ser65Ter) c.215_217delinsAAG (p.Ser72Ter) n.2452_2454delinsAAG n.374_376delinsAAG n.248_250delinsAAG c.166-42_166-40delinsAAG (n.166-42_166-40delinsAAG) | |
14 | g.90404415_90404417delinsAAT | CA2579771336 | CALM1 | c.322_324delinsAAT (p.His108Asn) c.214_216delinsAAT (p.His72Asn) c.325_327delinsAAT (p.His109Asn) c.194_196delinsAAT (p.Ser65Ter) c.215_217delinsAAT (p.Ser72Ter) n.2452_2454delinsAAT n.374_376delinsAAT n.248_250delinsAAT c.166-42_166-40delinsAAT (n.166-42_166-40delinsAAT) | |
14 | g.90404415_90404417delinsAGG | CA2579771557 | CALM1 | c.322_324delinsAGG (p.His108Arg) c.214_216delinsAGG (p.His72Arg) c.325_327delinsAGG (p.His109Arg) c.194_196delinsAGG (p.Ser65Ter) c.215_217delinsAGG (p.Ser72Ter) n.2452_2454delinsAGG n.374_376delinsAGG n.248_250delinsAGG c.166-42_166-40delinsAGG (n.166-42_166-40delinsAGG) | |
14 | g.90404415_90404417delinsATG | CA2579773534 | CALM1 | c.322_324delinsATG (p.His108Met) c.214_216delinsATG (p.His72Met) c.325_327delinsATG (p.His109Met) c.194_196delinsATG (p.Ser65_Arg66delinsTyrGly) c.215_217delinsATG (p.Ser72_Arg73delinsTyrGly) n.2452_2454delinsATG n.374_376delinsATG n.248_250delinsATG c.166-42_166-40delinsATG (n.166-42_166-40delinsATG) | |
14 | g.90404415_90404417delinsATT | CA2579770874 | CALM1 | c.322_324delinsATT (p.His108Ile) c.214_216delinsATT (p.His72Ile) c.325_327delinsATT (p.His109Ile) c.194_196delinsATT (p.Ser65_Arg66delinsTyrCys) c.215_217delinsATT (p.Ser72_Arg73delinsTyrCys) n.2452_2454delinsATT n.374_376delinsATT n.248_250delinsATT c.166-42_166-40delinsATT (n.166-42_166-40delinsATT) | |
14 | g.90404415_90404417delinsGAG | CA2579771047 | CALM1 | c.322_324delinsGAG (p.His108Glu) c.214_216delinsGAG (p.His72Glu) c.325_327delinsGAG (p.His109Glu) c.194_196delinsGAG (p.Ser65Ter) c.215_217delinsGAG (p.Ser72Ter) n.2452_2454delinsGAG n.374_376delinsGAG n.248_250delinsGAG c.166-42_166-40delinsGAG (n.166-42_166-40delinsGAG) | |
14 | g.90404415_90404417delinsGAT | CA2579771684 | CALM1 | c.322_324delinsGAT (p.His108Asp) c.214_216delinsGAT (p.His72Asp) c.325_327delinsGAT (p.His109Asp) c.194_196delinsGAT (p.Ser65Ter) c.215_217delinsGAT (p.Ser72Ter) n.2452_2454delinsGAT n.374_376delinsGAT n.248_250delinsGAT c.166-42_166-40delinsGAT (n.166-42_166-40delinsGAT) | |
14 | g.90404415_90404417delinsGCT | CA2579774326 | CALM1 | c.322_324delinsGCT (p.His108Ala) c.214_216delinsGCT (p.His72Ala) c.325_327delinsGCT (p.His109Ala) c.194_196delinsGCT (p.Ser65_Arg66delinsCysCys) c.215_217delinsGCT (p.Ser72_Arg73delinsCysCys) n.2452_2454delinsGCT n.374_376delinsGCT n.248_250delinsGCT c.166-42_166-40delinsGCT (n.166-42_166-40delinsGCT) | |
14 | g.90404415_90404417delinsGGG | CA2579770534 | CALM1 | c.322_324delinsGGG (p.His108Gly) c.214_216delinsGGG (p.His72Gly) c.325_327delinsGGG (p.His109Gly) c.194_196delinsGGG (p.Ser65_Arg66delinsTrpGly) c.215_217delinsGGG (p.Ser72_Arg73delinsTrpGly) n.2452_2454delinsGGG n.374_376delinsGGG n.248_250delinsGGG c.166-42_166-40delinsGGG (n.166-42_166-40delinsGGG) | |
14 | g.90404415_90404417delinsGGT | CA2579771276 | CALM1 | c.322_324delinsGGT (p.His108Gly) c.214_216delinsGGT (p.His72Gly) c.325_327delinsGGT (p.His109Gly) c.194_196delinsGGT (p.Ser65_Arg66delinsTrpCys) c.215_217delinsGGT (p.Ser72_Arg73delinsTrpCys) n.2452_2454delinsGGT n.374_376delinsGGT n.248_250delinsGGT c.166-42_166-40delinsGGT (n.166-42_166-40delinsGGT) | |
14 | g.90404415_90404417delinsGTT | CA2579772154 | CALM1 | c.322_324delinsGTT (p.His108Val) c.214_216delinsGTT (p.His72Val) c.325_327delinsGTT (p.His109Val) c.194_196delinsGTT (p.Ser65_Arg66delinsCysCys) c.215_217delinsGTT (p.Ser72_Arg73delinsCysCys) n.2452_2454delinsGTT n.374_376delinsGTT n.248_250delinsGTT c.166-42_166-40delinsGTT (n.166-42_166-40delinsGTT) | |
14 | g.90404415_90404417delinsTAA | CA2579773056 | CALM1 | c.322_324delinsTAA (p.His108Ter) c.214_216delinsTAA (p.His72Ter) c.325_327delinsTAA (p.His109Ter) c.194_196delinsTAA (p.Ser65_Arg66delinsLeuSer) c.215_217delinsTAA (p.Ser72_Arg73delinsLeuSer) n.2452_2454delinsTAA n.374_376delinsTAA n.248_250delinsTAA c.166-42_166-40delinsTAA (n.166-42_166-40delinsTAA) | |
14 | g.90404415_90404417delinsTAG | CA2579770600 | CALM1 | c.322_324delinsTAG (p.His108Ter) c.214_216delinsTAG (p.His72Ter) c.325_327delinsTAG (p.His109Ter) c.194_196delinsTAG (p.Ser65_Arg66delinsLeuGly) c.215_217delinsTAG (p.Ser72_Arg73delinsLeuGly) n.2452_2454delinsTAG n.374_376delinsTAG n.248_250delinsTAG c.166-42_166-40delinsTAG (n.166-42_166-40delinsTAG) | |
14 | g.90404415_90404417delinsTAT | CA2579772111 | CALM1 | c.322_324delinsTAT (p.His108Tyr) c.214_216delinsTAT (p.His72Tyr) c.325_327delinsTAT (p.His109Tyr) c.194_196delinsTAT (p.Ser65_Arg66delinsLeuCys) c.215_217delinsTAT (p.Ser72_Arg73delinsLeuCys) n.2452_2454delinsTAT n.374_376delinsTAT n.248_250delinsTAT c.166-42_166-40delinsTAT (n.166-42_166-40delinsTAT) | |
14 | g.90404415_90404417delinsTCG | CA2579772296 | CALM1 | c.322_324delinsTCG (p.His108Ser) c.214_216delinsTCG (p.His72Ser) c.325_327delinsTCG (p.His109Ser) c.194_196delinsTCG (p.Ser65_Arg66delinsPheGly) c.215_217delinsTCG (p.Ser72_Arg73delinsPheGly) n.2452_2454delinsTCG n.374_376delinsTCG n.248_250delinsTCG c.166-42_166-40delinsTCG (n.166-42_166-40delinsTCG) | |
14 | g.90404415_90404417delinsTCT | CA2579770726 | CALM1 | c.322_324delinsTCT (p.His108Ser) c.214_216delinsTCT (p.His72Ser) c.325_327delinsTCT (p.His109Ser) c.194_196delinsTCT (p.Ser65_Arg66delinsPheCys) c.215_217delinsTCT (p.Ser72_Arg73delinsPheCys) n.2452_2454delinsTCT n.374_376delinsTCT n.248_250delinsTCT c.166-42_166-40delinsTCT (n.166-42_166-40delinsTCT) | |
14 | g.90404415_90404417delinsTGT | CA2579772560 | CALM1 | c.322_324delinsTGT (p.His108Cys) c.214_216delinsTGT (p.His72Cys) c.325_327delinsTGT (p.His109Cys) c.194_196delinsTGT (p.Ser65_Arg66delinsLeuCys) c.215_217delinsTGT (p.Ser72_Arg73delinsLeuCys) n.2452_2454delinsTGT n.374_376delinsTGT n.248_250delinsTGT c.166-42_166-40delinsTGT (n.166-42_166-40delinsTGT) | |
14 | g.90404415_90404417delinsTTT | CA2579770405 | CALM1 | c.322_324delinsTTT (p.His108Phe) c.214_216delinsTTT (p.His72Phe) c.325_327delinsTTT (p.His109Phe) c.194_196delinsTTT (p.Ser65_Arg66delinsPheCys) c.215_217delinsTTT (p.Ser72_Arg73delinsPheCys) n.2452_2454delinsTTT n.374_376delinsTTT n.248_250delinsTTT c.166-42_166-40delinsTTT (n.166-42_166-40delinsTTT) | |
14 | g.90404416A>C | CA390690180 | CALM1 | c.323A>C (p.His108Pro) c.215A>C (p.His72Pro) c.326A>C (p.His109Pro) c.195A>C (p.Ser65=) c.216A>C (p.Ser72=) n.2453A>C n.375A>C n.249A>C c.166-41A>C (n.166-41A>C) | |
14 | g.90404416A>G | CA390690181 | CALM1 | c.323A>G (p.His108Arg) c.215A>G (p.His72Arg) c.326A>G (p.His109Arg) c.195A>G (p.Ser65=) c.216A>G (p.Ser72=) n.2453A>G n.375A>G n.249A>G c.166-41A>G (n.166-41A>G) | |
14 | g.90404416A>T | CA390690182 | CALM1 | c.323A>T (p.His108Leu) c.215A>T (p.His72Leu) c.326A>T (p.His109Leu) c.195A>T (p.Ser65=) c.216A>T (p.Ser72=) n.2453A>T n.375A>T n.249A>T c.166-41A>T (n.166-41A>T) | |
14 | g.90404416_90404417delinsCG | CA2579770442 | CALM1 | c.323_324delinsCG (p.His108Pro) c.215_216delinsCG (p.His72Pro) c.326_327delinsCG (p.His109Pro) c.195_196delinsCG (p.Arg66Gly) c.216_217delinsCG (p.Arg73Gly) n.2453_2454delinsCG n.375_376delinsCG n.249_250delinsCG c.166-41_166-40delinsCG (n.166-41_166-40delinsCG) | |
14 | g.90404416_90404417delinsCT | CA2579773761 | CALM1 | c.323_324delinsCT (p.His108Pro) c.215_216delinsCT (p.His72Pro) c.326_327delinsCT (p.His109Pro) c.195_196delinsCT (p.Arg66Cys) c.216_217delinsCT (p.Arg73Cys) n.2453_2454delinsCT n.375_376delinsCT n.249_250delinsCT c.166-41_166-40delinsCT (n.166-41_166-40delinsCT) | |
14 | g.90404416_90404417delinsGA | CA2579770280 | CALM1 | c.323_324delinsGA (p.His108Arg) c.215_216delinsGA (p.His72Arg) c.326_327delinsGA (p.His109Arg) c.195_196delinsGA (p.Arg66Ser) c.216_217delinsGA (p.Arg73Ser) n.2453_2454delinsGA n.375_376delinsGA n.249_250delinsGA c.166-41_166-40delinsGA (n.166-41_166-40delinsGA) | |
14 | g.90404416_90404417delinsGG | CA2579772568 | CALM1 | c.323_324delinsGG (p.His108Arg) c.215_216delinsGG (p.His72Arg) c.326_327delinsGG (p.His109Arg) c.195_196delinsGG (p.Arg66Gly) c.216_217delinsGG (p.Arg73Gly) n.2453_2454delinsGG n.375_376delinsGG n.249_250delinsGG c.166-41_166-40delinsGG (n.166-41_166-40delinsGG) | |
14 | g.90404416_90404417delinsGT | CA2579770255 | CALM1 | c.323_324delinsGT (p.His108Arg) c.215_216delinsGT (p.His72Arg) c.326_327delinsGT (p.His109Arg) c.195_196delinsGT (p.Arg66Cys) c.216_217delinsGT (p.Arg73Cys) n.2453_2454delinsGT n.375_376delinsGT n.249_250delinsGT c.166-41_166-40delinsGT (n.166-41_166-40delinsGT) | |
14 | g.90404416_90404417delinsTA | CA2579770825 | CALM1 | c.323_324delinsTA (p.His108Leu) c.215_216delinsTA (p.His72Leu) c.326_327delinsTA (p.His109Leu) c.195_196delinsTA (p.Arg66Ser) c.216_217delinsTA (p.Arg73Ser) n.2453_2454delinsTA n.375_376delinsTA n.249_250delinsTA c.166-41_166-40delinsTA (n.166-41_166-40delinsTA) | |
14 | g.90404416_90404417delinsTG | CA2579770391 | CALM1 | c.323_324delinsTG (p.His108Leu) c.215_216delinsTG (p.His72Leu) c.326_327delinsTG (p.His109Leu) c.195_196delinsTG (p.Arg66Gly) c.216_217delinsTG (p.Arg73Gly) n.2453_2454delinsTG n.375_376delinsTG n.249_250delinsTG c.166-41_166-40delinsTG (n.166-41_166-40delinsTG) | |
14 | g.90404416_90404417delinsTT | CA2579770201 | CALM1 | c.323_324delinsTT (p.His108Leu) c.215_216delinsTT (p.His72Leu) c.326_327delinsTT (p.His109Leu) c.195_196delinsTT (p.Arg66Cys) c.216_217delinsTT (p.Arg73Cys) n.2453_2454delinsTT n.375_376delinsTT n.249_250delinsTT c.166-41_166-40delinsTT (n.166-41_166-40delinsTT) | |
14 | g.90404417C>A | CA390690183 | CALM1 | c.324C>A (p.His108Gln) c.216C>A (p.His72Gln) c.327C>A (p.His109Gln) c.196C>A (p.Arg66Ser) c.217C>A (p.Arg73Ser) n.2454C>A n.376C>A n.250C>A c.166-40C>A (n.166-40C>A) | |
14 | g.90404417C= | CA2154484107 | CALM1 | c.324C= (p.His108=) c.216C= (p.His72=) c.327C= (p.His109=) c.196C= (p.Arg66=) c.217C= (p.Arg73=) n.2454C= n.376C= n.250C= c.166-40C= (n.166-40C=) | |
14 | g.90404417C>G | CA390690184 | CALM1 | c.324C>G (p.His108Gln) c.216C>G (p.His72Gln) c.327C>G (p.His109Gln) c.196C>G (p.Arg66Gly) c.217C>G (p.Arg73Gly) n.2454C>G n.376C>G n.250C>G c.166-40C>G (n.166-40C>G) | |
14 | g.90404417C>T | CA7305797 | CALM1 | c.324C>T (p.His108=) c.216C>T (p.His72=) c.327C>T (p.His109=) c.196C>T (p.Arg66Cys) c.217C>T (p.Arg73Cys) n.2454C>T n.376C>T n.250C>T c.166-40C>T (n.166-40C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404418G>A | CA390690185 | CALM1 | c.325G>A (p.Val109Ile) c.217G>A (p.Val73Ile) c.328G>A (p.Val110Ile) c.197G>A (p.Arg66His) c.218G>A (p.Arg73His) n.2455G>A n.377G>A n.251G>A c.166-39G>A (n.166-39G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404418G>C | CA390690186 | CALM1 | c.325G>C (p.Val109Leu) c.217G>C (p.Val73Leu) c.328G>C (p.Val110Leu) c.197G>C (p.Arg66Pro) c.218G>C (p.Arg73Pro) n.2455G>C n.377G>C n.251G>C c.166-39G>C (n.166-39G>C) | |
14 | g.90404418G= | CA2154484111 | CALM1 | c.325G= (p.Val109=) c.217G= (p.Val73=) c.328G= (p.Val110=) c.197G= (p.Arg66=) c.218G= (p.Arg73=) n.2455G= n.377G= n.251G= c.166-39G= (n.166-39G=) | |
14 | g.90404418G>T | CA390690187 | CALM1 | c.325G>T (p.Val109Phe) c.217G>T (p.Val73Phe) c.328G>T (p.Val110Phe) c.197G>T (p.Arg66Leu) c.218G>T (p.Arg73Leu) n.2455G>T n.377G>T n.251G>T c.166-39G>T (n.166-39G>T) | |
14 | g.90404418_90404419delinsAA | CA2579770846 | CALM1 | c.325_326delinsAA (p.Val109Asn) c.217_218delinsAA (p.Val73Asn) c.328_329delinsAA (p.Val110Asn) c.197_198delinsAA (p.Arg66Gln) c.218_219delinsAA (p.Arg73Gln) n.2455_2456delinsAA n.377_378delinsAA n.251_252delinsAA c.166-39_166-38delinsAA (n.166-39_166-38delinsAA) | |
14 | g.90404418_90404419delinsAC | CA2579772229 | CALM1 | c.325_326delinsAC (p.Val109Thr) c.217_218delinsAC (p.Val73Thr) c.328_329delinsAC (p.Val110Thr) c.197_198delinsAC (p.Arg66His) c.218_219delinsAC (p.Arg73His) n.2455_2456delinsAC n.377_378delinsAC n.251_252delinsAC c.166-39_166-38delinsAC (n.166-39_166-38delinsAC) | |
14 | g.90404418_90404419delinsAG | CA2579774164 | CALM1 | c.325_326delinsAG (p.Val109Ser) c.217_218delinsAG (p.Val73Ser) c.328_329delinsAG (p.Val110Ser) c.197_198delinsAG (p.Arg66Gln) c.218_219delinsAG (p.Arg73Gln) n.2455_2456delinsAG n.377_378delinsAG n.251_252delinsAG c.166-39_166-38delinsAG (n.166-39_166-38delinsAG) | |
14 | g.90404418_90404419delinsCA | CA2579773706 | CALM1 | c.325_326delinsCA (p.Val109His) c.217_218delinsCA (p.Val73His) c.328_329delinsCA (p.Val110His) c.197_198delinsCA (p.Arg66Pro) c.218_219delinsCA (p.Arg73Pro) n.2455_2456delinsCA n.377_378delinsCA n.251_252delinsCA c.166-39_166-38delinsCA (n.166-39_166-38delinsCA) | |
14 | g.90404418_90404419delinsCC | CA2579770074 | CALM1 | c.325_326delinsCC (p.Val109Pro) c.217_218delinsCC (p.Val73Pro) c.328_329delinsCC (p.Val110Pro) c.197_198delinsCC (p.Arg66Pro) c.218_219delinsCC (p.Arg73Pro) n.2455_2456delinsCC n.377_378delinsCC n.251_252delinsCC c.166-39_166-38delinsCC (n.166-39_166-38delinsCC) | |
14 | g.90404418_90404419delinsTA | CA2579771558 | CALM1 | c.325_326delinsTA (p.Val109Tyr) c.217_218delinsTA (p.Val73Tyr) c.328_329delinsTA (p.Val110Tyr) c.197_198delinsTA (p.Arg66Leu) c.218_219delinsTA (p.Arg73Leu) n.2455_2456delinsTA n.377_378delinsTA n.251_252delinsTA c.166-39_166-38delinsTA (n.166-39_166-38delinsTA) | |
14 | g.90404418_90404419delinsTC | CA2579771974 | CALM1 | c.325_326delinsTC (p.Val109Ser) c.217_218delinsTC (p.Val73Ser) c.328_329delinsTC (p.Val110Ser) c.197_198delinsTC (p.Arg66Leu) c.218_219delinsTC (p.Arg73Leu) n.2455_2456delinsTC n.377_378delinsTC n.251_252delinsTC c.166-39_166-38delinsTC (n.166-39_166-38delinsTC) | |
14 | g.90404418_90404419delinsTG | CA2579770227 | CALM1 | c.325_326delinsTG (p.Val109Cys) c.217_218delinsTG (p.Val73Cys) c.328_329delinsTG (p.Val110Cys) c.197_198delinsTG (p.Arg66Leu) c.218_219delinsTG (p.Arg73Leu) n.2455_2456delinsTG n.377_378delinsTG n.251_252delinsTG c.166-39_166-38delinsTG (n.166-39_166-38delinsTG) | |
14 | g.90404418_90404420delinsAAT | CA2579772897 | CALM1 | c.325_327delinsAAT (p.Val109Asn) c.217_219delinsAAT (p.Val73Asn) c.328_330delinsAAT (p.Val110Asn) c.197_199delinsAAT (p.Arg66_His67delinsGlnTyr) c.218_220delinsAAT (p.Arg73_His74delinsGlnTyr) n.2455_2457delinsAAT n.377_379delinsAAT n.251_253delinsAAT c.166-39_166-37delinsAAT (n.166-39_166-37delinsAAT) | |
14 | g.90404418_90404420delinsACG | CA2579769778 | CALM1 | c.325_327delinsACG (p.Val109Thr) c.217_219delinsACG (p.Val73Thr) c.328_330delinsACG (p.Val110Thr) c.197_199delinsACG (p.Arg66_His67delinsHisAsp) c.218_220delinsACG (p.Arg73_His74delinsHisAsp) n.2455_2457delinsACG n.377_379delinsACG n.251_253delinsACG c.166-39_166-37delinsACG (n.166-39_166-37delinsACG) | |
14 | g.90404418_90404420delinsACT | CA2579770309 | CALM1 | c.325_327delinsACT (p.Val109Thr) c.217_219delinsACT (p.Val73Thr) c.328_330delinsACT (p.Val110Thr) c.197_199delinsACT (p.Arg66_His67delinsHisTyr) c.218_220delinsACT (p.Arg73_His74delinsHisTyr) n.2455_2457delinsACT n.377_379delinsACT n.251_253delinsACT c.166-39_166-37delinsACT (n.166-39_166-37delinsACT) | |
14 | g.90404418_90404420delinsAGG | CA2579771936 | CALM1 | c.325_327delinsAGG (p.Val109Arg) c.217_219delinsAGG (p.Val73Arg) c.328_330delinsAGG (p.Val110Arg) c.197_199delinsAGG (p.Arg66_His67delinsGlnAsp) c.218_220delinsAGG (p.Arg73_His74delinsGlnAsp) n.2455_2457delinsAGG n.377_379delinsAGG n.251_253delinsAGG c.166-39_166-37delinsAGG (n.166-39_166-37delinsAGG) | |
14 | g.90404418_90404420delinsATA | CA2579770048 | CALM1 | c.325_327delinsATA (p.Val109Ile) c.217_219delinsATA (p.Val73Ile) c.328_330delinsATA (p.Val110Ile) c.197_199delinsATA (p.Arg66_His67delinsHisAsn) c.218_220delinsATA (p.Arg73_His74delinsHisAsn) n.2455_2457delinsATA n.377_379delinsATA n.251_253delinsATA c.166-39_166-37delinsATA (n.166-39_166-37delinsATA) | |
14 | g.90404418_90404420delinsATG | CA2579771791 | CALM1 | c.325_327delinsATG (p.Val109Met) c.217_219delinsATG (p.Val73Met) c.328_330delinsATG (p.Val110Met) c.197_199delinsATG (p.Arg66_His67delinsHisAsp) c.218_220delinsATG (p.Arg73_His74delinsHisAsp) n.2455_2457delinsATG n.377_379delinsATG n.251_253delinsATG c.166-39_166-37delinsATG (n.166-39_166-37delinsATG) | |
14 | g.90404418_90404420delinsATT | CA2579771887 | CALM1 | c.325_327delinsATT (p.Val109Ile) c.217_219delinsATT (p.Val73Ile) c.328_330delinsATT (p.Val110Ile) c.197_199delinsATT (p.Arg66_His67delinsHisTyr) c.218_220delinsATT (p.Arg73_His74delinsHisTyr) n.2455_2457delinsATT n.377_379delinsATT n.251_253delinsATT c.166-39_166-37delinsATT (n.166-39_166-37delinsATT) | |
14 | g.90404418_90404420delinsCAG | CA2579772022 | CALM1 | c.325_327delinsCAG (p.Val109Gln) c.217_219delinsCAG (p.Val73Gln) c.328_330delinsCAG (p.Val110Gln) c.197_199delinsCAG (p.Arg66_His67delinsProAsp) c.218_220delinsCAG (p.Arg73_His74delinsProAsp) n.2455_2457delinsCAG n.377_379delinsCAG n.251_253delinsCAG c.166-39_166-37delinsCAG (n.166-39_166-37delinsCAG) | |
14 | g.90404418_90404420delinsCCG | CA2579770174 | CALM1 | c.325_327delinsCCG (p.Val109Pro) c.217_219delinsCCG (p.Val73Pro) c.328_330delinsCCG (p.Val110Pro) c.197_199delinsCCG (p.Arg66_His67delinsProAsp) c.218_220delinsCCG (p.Arg73_His74delinsProAsp) n.2455_2457delinsCCG n.377_379delinsCCG n.251_253delinsCCG c.166-39_166-37delinsCCG (n.166-39_166-37delinsCCG) | |
14 | g.90404418_90404420delinsCTG | CA2579772050 | CALM1 | c.325_327delinsCTG (p.Val109Leu) c.217_219delinsCTG (p.Val73Leu) c.328_330delinsCTG (p.Val110Leu) c.197_199delinsCTG (p.Arg66_His67delinsProAsp) c.218_220delinsCTG (p.Arg73_His74delinsProAsp) n.2455_2457delinsCTG n.377_379delinsCTG n.251_253delinsCTG c.166-39_166-37delinsCTG (n.166-39_166-37delinsCTG) | |
14 | g.90404418_90404420delinsTAG | CA2579771507 | CALM1 | c.325_327delinsTAG (p.Val109Ter) c.217_219delinsTAG (p.Val73Ter) c.328_330delinsTAG (p.Val110Ter) c.197_199delinsTAG (p.Arg66_His67delinsLeuAsp) c.218_220delinsTAG (p.Arg73_His74delinsLeuAsp) n.2455_2457delinsTAG n.377_379delinsTAG n.251_253delinsTAG c.166-39_166-37delinsTAG (n.166-39_166-37delinsTAG) | |
14 | g.90404418_90404420delinsTAT | CA2579770370 | CALM1 | c.325_327delinsTAT (p.Val109Tyr) c.217_219delinsTAT (p.Val73Tyr) c.328_330delinsTAT (p.Val110Tyr) c.197_199delinsTAT (p.Arg66_His67delinsLeuTyr) c.218_220delinsTAT (p.Arg73_His74delinsLeuTyr) n.2455_2457delinsTAT n.377_379delinsTAT n.251_253delinsTAT c.166-39_166-37delinsTAT (n.166-39_166-37delinsTAT) | |
14 | g.90404418_90404420delinsTGG | CA2579774216 | CALM1 | c.325_327delinsTGG (p.Val109Trp) c.217_219delinsTGG (p.Val73Trp) c.328_330delinsTGG (p.Val110Trp) c.197_199delinsTGG (p.Arg66_His67delinsLeuAsp) c.218_220delinsTGG (p.Arg73_His74delinsLeuAsp) n.2455_2457delinsTGG n.377_379delinsTGG n.251_253delinsTGG c.166-39_166-37delinsTGG (n.166-39_166-37delinsTGG) | |
14 | g.90404418_90404420delinsTTG | CA2579771430 | CALM1 | c.325_327delinsTTG (p.Val109Leu) c.217_219delinsTTG (p.Val73Leu) c.328_330delinsTTG (p.Val110Leu) c.197_199delinsTTG (p.Arg66_His67delinsLeuAsp) c.218_220delinsTTG (p.Arg73_His74delinsLeuAsp) n.2455_2457delinsTTG n.377_379delinsTTG n.251_253delinsTTG c.166-39_166-37delinsTTG (n.166-39_166-37delinsTTG) | |
14 | g.90404418_90404420delinsTTT | CA2579770114 | CALM1 | c.325_327delinsTTT (p.Val109Phe) c.217_219delinsTTT (p.Val73Phe) c.328_330delinsTTT (p.Val110Phe) c.197_199delinsTTT (p.Arg66_His67delinsLeuTyr) c.218_220delinsTTT (p.Arg73_His74delinsLeuTyr) n.2455_2457delinsTTT n.377_379delinsTTT n.251_253delinsTTT c.166-39_166-37delinsTTT (n.166-39_166-37delinsTTT) | |
14 | g.90404419T>A | CA390690190 | CALM1 | c.326T>A (p.Val109Asp) c.218T>A (p.Val73Asp) c.329T>A (p.Val110Asp) c.198T>A (p.Arg66=) c.219T>A (p.Arg73=) n.2456T>A n.378T>A n.252T>A c.166-38T>A (n.166-38T>A) | |
14 | g.90404419T>C | CA390690188 | CALM1 | c.326T>C (p.Val109Ala) c.218T>C (p.Val73Ala) c.329T>C (p.Val110Ala) c.198T>C (p.Arg66=) c.219T>C (p.Arg73=) n.2456T>C n.378T>C n.252T>C c.166-38T>C (n.166-38T>C) | |
14 | g.90404419T>G | CA390690189 | CALM1 | c.326T>G (p.Val109Gly) c.218T>G (p.Val73Gly) c.329T>G (p.Val110Gly) c.198T>G (p.Arg66=) c.219T>G (p.Arg73=) n.2456T>G n.378T>G n.252T>G c.166-38T>G (n.166-38T>G) | |
14 | g.90404419_90404420delinsAG | CA2579772528 | CALM1 | c.326_327delinsAG (p.Val109Glu) c.218_219delinsAG (p.Val73Glu) c.329_330delinsAG (p.Val110Glu) c.198_199delinsAG (p.His67Asp) c.219_220delinsAG (p.His74Asp) n.2456_2457delinsAG n.378_379delinsAG n.252_253delinsAG c.166-38_166-37delinsAG (n.166-38_166-37delinsAG) | |
14 | g.90404419_90404420delinsAT | CA2579772687 | CALM1 | c.326_327delinsAT (p.Val109Asp) c.218_219delinsAT (p.Val73Asp) c.329_330delinsAT (p.Val110Asp) c.198_199delinsAT (p.His67Tyr) c.219_220delinsAT (p.His74Tyr) n.2456_2457delinsAT n.378_379delinsAT n.252_253delinsAT c.166-38_166-37delinsAT (n.166-38_166-37delinsAT) | |
14 | g.90404419_90404420delinsCA | CA2579770260 | CALM1 | c.326_327delinsCA (p.Val109Ala) c.218_219delinsCA (p.Val73Ala) c.329_330delinsCA (p.Val110Ala) c.198_199delinsCA (p.His67Asn) c.219_220delinsCA (p.His74Asn) n.2456_2457delinsCA n.378_379delinsCA n.252_253delinsCA c.166-38_166-37delinsCA (n.166-38_166-37delinsCA) | |
14 | g.90404419_90404420delinsCG | CA2579772606 | CALM1 | c.326_327delinsCG (p.Val109Ala) c.218_219delinsCG (p.Val73Ala) c.329_330delinsCG (p.Val110Ala) c.198_199delinsCG (p.His67Asp) c.219_220delinsCG (p.His74Asp) n.2456_2457delinsCG n.378_379delinsCG n.252_253delinsCG c.166-38_166-37delinsCG (n.166-38_166-37delinsCG) | |
14 | g.90404419_90404420delinsCT | CA2579770086 | CALM1 | c.326_327delinsCT (p.Val109Ala) c.218_219delinsCT (p.Val73Ala) c.329_330delinsCT (p.Val110Ala) c.198_199delinsCT (p.His67Tyr) c.219_220delinsCT (p.His74Tyr) n.2456_2457delinsCT n.378_379delinsCT n.252_253delinsCT c.166-38_166-37delinsCT (n.166-38_166-37delinsCT) | |
14 | g.90404419_90404420delinsGA | CA2579773344 | CALM1 | c.326_327delinsGA (p.Val109Gly) c.218_219delinsGA (p.Val73Gly) c.329_330delinsGA (p.Val110Gly) c.198_199delinsGA (p.His67Asn) c.219_220delinsGA (p.His74Asn) n.2456_2457delinsGA n.378_379delinsGA n.252_253delinsGA c.166-38_166-37delinsGA (n.166-38_166-37delinsGA) | |
14 | g.90404419_90404420delinsGG | CA2579774229 | CALM1 | c.326_327delinsGG (p.Val109Gly) c.218_219delinsGG (p.Val73Gly) c.329_330delinsGG (p.Val110Gly) c.198_199delinsGG (p.His67Asp) c.219_220delinsGG (p.His74Asp) n.2456_2457delinsGG n.378_379delinsGG n.252_253delinsGG c.166-38_166-37delinsGG (n.166-38_166-37delinsGG) | |
14 | g.90404419_90404420delinsGT | CA2579774214 | CALM1 | c.326_327delinsGT (p.Val109Gly) c.218_219delinsGT (p.Val73Gly) c.329_330delinsGT (p.Val110Gly) c.198_199delinsGT (p.His67Tyr) c.219_220delinsGT (p.His74Tyr) n.2456_2457delinsGT n.378_379delinsGT n.252_253delinsGT c.166-38_166-37delinsGT (n.166-38_166-37delinsGT) | |
14 | g.90404420C>A | CA487760145 | CALM1 | c.327C>A (p.Val109=) c.219C>A (p.Val73=) c.330C>A (p.Val110=) c.199C>A (p.His67Asn) c.220C>A (p.His74Asn) n.2457C>A n.379C>A n.253C>A c.166-37C>A (n.166-37C>A) | dbSNP |
14 | g.90404420C= | CA2154484115 | CALM1 | c.327C= (p.Val109=) c.219C= (p.Val73=) c.330C= (p.Val110=) c.199C= (p.His67=) c.220C= (p.His74=) n.2457C= n.379C= n.253C= c.166-37C= (n.166-37C=) | |
14 | g.90404420C>G | CA487760147 | CALM1 | c.327C>G (p.Val109=) c.219C>G (p.Val73=) c.330C>G (p.Val110=) c.199C>G (p.His67Asp) c.220C>G (p.His74Asp) n.2457C>G n.379C>G n.253C>G c.166-37C>G (n.166-37C>G) | |
14 | g.90404420C>T | CA487760149 | CALM1 | c.327C>T (p.Val109=) c.219C>T (p.Val73=) c.330C>T (p.Val110=) c.199C>T (p.His67Tyr) c.220C>T (p.His74Tyr) n.2457C>T n.379C>T n.253C>T c.166-37C>T (n.166-37C>T) | ClinVar gnomAD v4 |
14 | g.90404421A>C | CA390690191 | CALM1 | c.328A>C (p.Met110Leu) c.220A>C (p.Met74Leu) c.331A>C (p.Met111Leu) c.200A>C (p.His67Pro) c.221A>C (p.His74Pro) n.2458A>C n.380A>C n.254A>C c.166-36A>C (n.166-36A>C) | ClinVar dbSNP |
14 | g.90404421A>G | CA390690192 | CALM1 | c.328A>G (p.Met110Val) c.220A>G (p.Met74Val) c.331A>G (p.Met111Val) c.200A>G (p.His67Arg) c.221A>G (p.His74Arg) n.2458A>G n.380A>G n.254A>G c.166-36A>G (n.166-36A>G) | |
14 | g.90404421A>T | CA390690193 | CALM1 | c.328A>T (p.Met110Leu) c.220A>T (p.Met74Leu) c.331A>T (p.Met111Leu) c.200A>T (p.His67Leu) c.221A>T (p.His74Leu) n.2458A>T n.380A>T n.254A>T c.166-36A>T (n.166-36A>T) | |
14 | g.90404421_90404422delinsCA | CA2579770070 | CALM1 | c.328_329delinsCA (p.Met110Gln) c.220_221delinsCA (p.Met74Gln) c.331_332delinsCA (p.Met111Gln) c.200_201delinsCA (p.His67Pro) c.221_222delinsCA (p.His74Pro) n.2458_2459delinsCA n.380_381delinsCA n.254_255delinsCA c.166-36_166-35delinsCA (n.166-36_166-35delinsCA) | |
14 | g.90404421_90404422delinsCC | CA2579772367 | CALM1 | c.328_329delinsCC (p.Met110Pro) c.220_221delinsCC (p.Met74Pro) c.331_332delinsCC (p.Met111Pro) c.200_201delinsCC (p.His67Pro) c.221_222delinsCC (p.His74Pro) n.2458_2459delinsCC n.380_381delinsCC n.254_255delinsCC c.166-36_166-35delinsCC (n.166-36_166-35delinsCC) | |
14 | g.90404421_90404422delinsCG | CA2579770663 | CALM1 | c.328_329delinsCG (p.Met110Arg) c.220_221delinsCG (p.Met74Arg) c.331_332delinsCG (p.Met111Arg) c.200_201delinsCG (p.His67Pro) c.221_222delinsCG (p.His74Pro) n.2458_2459delinsCG n.380_381delinsCG n.254_255delinsCG c.166-36_166-35delinsCG (n.166-36_166-35delinsCG) | |
14 | g.90404421_90404422delinsGA | CA2579772755 | CALM1 | c.328_329delinsGA (p.Met110Glu) c.220_221delinsGA (p.Met74Glu) c.331_332delinsGA (p.Met111Glu) c.200_201delinsGA (p.His67Arg) c.221_222delinsGA (p.His74Arg) n.2458_2459delinsGA n.380_381delinsGA n.254_255delinsGA c.166-36_166-35delinsGA (n.166-36_166-35delinsGA) | |
14 | g.90404421_90404422delinsGC | CA2579773669 | CALM1 | c.328_329delinsGC (p.Met110Ala) c.220_221delinsGC (p.Met74Ala) c.331_332delinsGC (p.Met111Ala) c.200_201delinsGC (p.His67Arg) c.221_222delinsGC (p.His74Arg) n.2458_2459delinsGC n.380_381delinsGC n.254_255delinsGC c.166-36_166-35delinsGC (n.166-36_166-35delinsGC) | |
14 | g.90404421_90404422delinsGG | CA2579772070 | CALM1 | c.328_329delinsGG (p.Met110Gly) c.220_221delinsGG (p.Met74Gly) c.331_332delinsGG (p.Met111Gly) c.200_201delinsGG (p.His67Arg) c.221_222delinsGG (p.His74Arg) n.2458_2459delinsGG n.380_381delinsGG n.254_255delinsGG c.166-36_166-35delinsGG (n.166-36_166-35delinsGG) | |
14 | g.90404421_90404422delinsTA | CA2579773740 | CALM1 | c.328_329delinsTA (p.Met110Ter) c.220_221delinsTA (p.Met74Ter) c.331_332delinsTA (p.Met111Ter) c.200_201delinsTA (p.His67Leu) c.221_222delinsTA (p.His74Leu) n.2458_2459delinsTA n.380_381delinsTA n.254_255delinsTA c.166-36_166-35delinsTA (n.166-36_166-35delinsTA) | |
14 | g.90404421_90404422delinsTC | CA2579773327 | CALM1 | c.328_329delinsTC (p.Met110Ser) c.220_221delinsTC (p.Met74Ser) c.331_332delinsTC (p.Met111Ser) c.200_201delinsTC (p.His67Leu) c.221_222delinsTC (p.His74Leu) n.2458_2459delinsTC n.380_381delinsTC n.254_255delinsTC c.166-36_166-35delinsTC (n.166-36_166-35delinsTC) | |
14 | g.90404421_90404422delinsTG | CA2579769772 | CALM1 | c.328_329delinsTG (p.Met110Trp) c.220_221delinsTG (p.Met74Trp) c.331_332delinsTG (p.Met111Trp) c.200_201delinsTG (p.His67Leu) c.221_222delinsTG (p.His74Leu) n.2458_2459delinsTG n.380_381delinsTG n.254_255delinsTG c.166-36_166-35delinsTG (n.166-36_166-35delinsTG) | |
14 | g.90404421_90404423delinsCGT | CA2579770536 | CALM1 | c.328_330delinsCGT (p.Met110Arg) c.220_222delinsCGT (p.Met74Arg) c.331_333delinsCGT (p.Met111Arg) c.200_202delinsCGT (p.His67_Asp68delinsProTyr) c.221_223delinsCGT (p.His74_Asp75delinsProTyr) n.2458_2460delinsCGT n.380_382delinsCGT n.254_256delinsCGT c.166-36_166-34delinsCGT (n.166-36_166-34delinsCGT) | |
14 | g.90404421_90404423delinsCTA | CA2579772000 | CALM1 | c.328_330delinsCTA (p.Met110Leu) c.220_222delinsCTA (p.Met74Leu) c.331_333delinsCTA (p.Met111Leu) c.200_202delinsCTA (p.His67_Asp68delinsProAsn) c.221_223delinsCTA (p.His74_Asp75delinsProAsn) n.2458_2460delinsCTA n.380_382delinsCTA n.254_256delinsCTA c.166-36_166-34delinsCTA (n.166-36_166-34delinsCTA) | |
14 | g.90404421_90404423delinsCTT | CA2579773345 | CALM1 | c.328_330delinsCTT (p.Met110Leu) c.220_222delinsCTT (p.Met74Leu) c.331_333delinsCTT (p.Met111Leu) c.200_202delinsCTT (p.His67_Asp68delinsProTyr) c.221_223delinsCTT (p.His74_Asp75delinsProTyr) n.2458_2460delinsCTT n.380_382delinsCTT n.254_256delinsCTT c.166-36_166-34delinsCTT (n.166-36_166-34delinsCTT) | |
14 | g.90404421_90404423delinsGCC | CA2579771693 | CALM1 | c.328_330delinsGCC (p.Met110Ala) c.220_222delinsGCC (p.Met74Ala) c.331_333delinsGCC (p.Met111Ala) c.200_202delinsGCC (p.His67_Asp68delinsArgHis) c.221_223delinsGCC (p.His74_Asp75delinsArgHis) n.2458_2460delinsGCC n.380_382delinsGCC n.254_256delinsGCC c.166-36_166-34delinsGCC (n.166-36_166-34delinsGCC) | |
14 | g.90404421_90404423delinsGCT | CA2579772826 | CALM1 | c.328_330delinsGCT (p.Met110Ala) c.220_222delinsGCT (p.Met74Ala) c.331_333delinsGCT (p.Met111Ala) c.200_202delinsGCT (p.His67_Asp68delinsArgTyr) c.221_223delinsGCT (p.His74_Asp75delinsArgTyr) n.2458_2460delinsGCT n.380_382delinsGCT n.254_256delinsGCT c.166-36_166-34delinsGCT (n.166-36_166-34delinsGCT) | |
14 | g.90404421_90404423delinsGGT | CA2579770259 | CALM1 | c.328_330delinsGGT (p.Met110Gly) c.220_222delinsGGT (p.Met74Gly) c.331_333delinsGGT (p.Met111Gly) c.200_202delinsGGT (p.His67_Asp68delinsArgTyr) c.221_223delinsGGT (p.His74_Asp75delinsArgTyr) n.2458_2460delinsGGT n.380_382delinsGGT n.254_256delinsGGT c.166-36_166-34delinsGGT (n.166-36_166-34delinsGGT) | |
14 | g.90404421_90404423delinsGTA | CA2579773813 | CALM1 | c.328_330delinsGTA (p.Met110Val) c.220_222delinsGTA (p.Met74Val) c.331_333delinsGTA (p.Met111Val) c.200_202delinsGTA (p.His67_Asp68delinsArgAsn) c.221_223delinsGTA (p.His74_Asp75delinsArgAsn) n.2458_2460delinsGTA n.380_382delinsGTA n.254_256delinsGTA c.166-36_166-34delinsGTA (n.166-36_166-34delinsGTA) | |
14 | g.90404421_90404423delinsGTT | CA2579774309 | CALM1 | c.328_330delinsGTT (p.Met110Val) c.220_222delinsGTT (p.Met74Val) c.331_333delinsGTT (p.Met111Val) c.200_202delinsGTT (p.His67_Asp68delinsArgTyr) c.221_223delinsGTT (p.His74_Asp75delinsArgTyr) n.2458_2460delinsGTT n.380_382delinsGTT n.254_256delinsGTT c.166-36_166-34delinsGTT (n.166-36_166-34delinsGTT) | |
14 | g.90404421_90404423delinsTTA | CA2579770167 | CALM1 | c.328_330delinsTTA (p.Met110Leu) c.220_222delinsTTA (p.Met74Leu) c.331_333delinsTTA (p.Met111Leu) c.200_202delinsTTA (p.His67_Asp68delinsLeuAsn) c.221_223delinsTTA (p.His74_Asp75delinsLeuAsn) n.2458_2460delinsTTA n.380_382delinsTTA n.254_256delinsTTA c.166-36_166-34delinsTTA (n.166-36_166-34delinsTTA) | |
14 | g.90404421_90404423delinsTTT | CA2579770565 | CALM1 | c.328_330delinsTTT (p.Met110Phe) c.220_222delinsTTT (p.Met74Phe) c.331_333delinsTTT (p.Met111Phe) c.200_202delinsTTT (p.His67_Asp68delinsLeuTyr) c.221_223delinsTTT (p.His74_Asp75delinsLeuTyr) n.2458_2460delinsTTT n.380_382delinsTTT n.254_256delinsTTT c.166-36_166-34delinsTTT (n.166-36_166-34delinsTTT) | |
14 | g.90404422T>A | CA390690194 | CALM1 | c.329T>A (p.Met110Lys) c.221T>A (p.Met74Lys) c.332T>A (p.Met111Lys) c.201T>A (p.His67Gln) c.222T>A (p.His74Gln) n.2459T>A n.381T>A n.255T>A c.166-35T>A (n.166-35T>A) | |
14 | g.90404422T>C | CA390690195 | CALM1 | c.329T>C (p.Met110Thr) c.221T>C (p.Met74Thr) c.332T>C (p.Met111Thr) c.201T>C (p.His67=) c.222T>C (p.His74=) n.2459T>C n.381T>C n.255T>C c.166-35T>C (n.166-35T>C) | |
14 | g.90404422T>G | CA390690196 | CALM1 | c.329T>G (p.Met110Arg) c.221T>G (p.Met74Arg) c.332T>G (p.Met111Arg) c.201T>G (p.His67Gln) c.222T>G (p.His74Gln) n.2459T>G n.381T>G n.255T>G c.166-35T>G (n.166-35T>G) | |
14 | g.90404422_90404423delinsAT | CA2579773130 | CALM1 | c.329_330delinsAT (p.Met110Asn) c.221_222delinsAT (p.Met74Asn) c.332_333delinsAT (p.Met111Asn) c.201_202delinsAT (p.His67_Asp68delinsGlnTyr) c.222_223delinsAT (p.His74_Asp75delinsGlnTyr) n.2459_2460delinsAT n.381_382delinsAT n.255_256delinsAT c.166-35_166-34delinsAT (n.166-35_166-34delinsAT) | |
14 | g.90404422_90404423delinsCA | CA2579771868 | CALM1 | c.329_330delinsCA (p.Met110Thr) c.221_222delinsCA (p.Met74Thr) c.332_333delinsCA (p.Met111Thr) c.201_202delinsCA (p.Asp68Asn) c.222_223delinsCA (p.Asp75Asn) n.2459_2460delinsCA n.381_382delinsCA n.255_256delinsCA c.166-35_166-34delinsCA (n.166-35_166-34delinsCA) | |
14 | g.90404422_90404423delinsCC | CA2579771918 | CALM1 | c.329_330delinsCC (p.Met110Thr) c.221_222delinsCC (p.Met74Thr) c.332_333delinsCC (p.Met111Thr) c.201_202delinsCC (p.Asp68His) c.222_223delinsCC (p.Asp75His) n.2459_2460delinsCC n.381_382delinsCC n.255_256delinsCC c.166-35_166-34delinsCC (n.166-35_166-34delinsCC) | |
14 | g.90404422_90404423delinsCT | CA2579773637 | CALM1 | c.329_330delinsCT (p.Met110Thr) c.221_222delinsCT (p.Met74Thr) c.332_333delinsCT (p.Met111Thr) c.201_202delinsCT (p.Asp68Tyr) c.222_223delinsCT (p.Asp75Tyr) n.2459_2460delinsCT n.381_382delinsCT n.255_256delinsCT c.166-35_166-34delinsCT (n.166-35_166-34delinsCT) | |
14 | g.90404422_90404423delinsGT | CA2579773565 | CALM1 | c.329_330delinsGT (p.Met110Ser) c.221_222delinsGT (p.Met74Ser) c.332_333delinsGT (p.Met111Ser) c.201_202delinsGT (p.His67_Asp68delinsGlnTyr) c.222_223delinsGT (p.His74_Asp75delinsGlnTyr) n.2459_2460delinsGT n.381_382delinsGT n.255_256delinsGT c.166-35_166-34delinsGT (n.166-35_166-34delinsGT) | |
14 | g.90404423G>A | CA390690197 | CALM1 | c.330G>A (p.Met110Ile) c.222G>A (p.Met74Ile) c.333G>A (p.Met111Ile) c.202G>A (p.Asp68Asn) c.223G>A (p.Asp75Asn) n.2460G>A n.382G>A n.256G>A c.166-34G>A (n.166-34G>A) | |
14 | g.90404423G>C | CA390690198 | CALM1 | c.330G>C (p.Met110Ile) c.222G>C (p.Met74Ile) c.333G>C (p.Met111Ile) c.202G>C (p.Asp68His) c.223G>C (p.Asp75His) n.2460G>C n.382G>C n.256G>C c.166-34G>C (n.166-34G>C) | |
14 | g.90404423G>T | CA390690199 | CALM1 | c.330G>T (p.Met110Ile) c.222G>T (p.Met74Ile) c.333G>T (p.Met111Ile) c.202G>T (p.Asp68Tyr) c.223G>T (p.Asp75Tyr) n.2460G>T n.382G>T n.256G>T c.166-34G>T (n.166-34G>T) | |
14 | g.90404424A>C | CA390690200 | CALM1 | c.331A>C (p.Thr111Pro) c.223A>C (p.Thr75Pro) c.334A>C (p.Thr112Pro) c.203A>C (p.Asp68Ala) c.224A>C (p.Asp75Ala) n.2461A>C n.383A>C n.257A>C c.166-33A>C (n.166-33A>C) | |
14 | g.90404424A>G | CA390690201 | CALM1 | c.331A>G (p.Thr111Ala) c.223A>G (p.Thr75Ala) c.334A>G (p.Thr112Ala) c.203A>G (p.Asp68Gly) c.224A>G (p.Asp75Gly) n.2461A>G n.383A>G n.257A>G c.166-33A>G (n.166-33A>G) | |
14 | g.90404424A>T | CA390690202 | CALM1 | c.331A>T (p.Thr111Ser) c.223A>T (p.Thr75Ser) c.334A>T (p.Thr112Ser) c.203A>T (p.Asp68Val) c.224A>T (p.Asp75Val) n.2461A>T n.383A>T n.257A>T c.166-33A>T (n.166-33A>T) | |
14 | g.90404424_90404425delinsCG | CA2579770707 | CALM1 | c.331_332delinsCG (p.Thr111Arg) c.223_224delinsCG (p.Thr75Arg) c.334_335delinsCG (p.Thr112Arg) c.203_204delinsCG (p.Asp68Ala) c.224_225delinsCG (p.Asp75Ala) n.2461_2462delinsCG n.383_384delinsCG n.257_258delinsCG c.166-33_166-32delinsCG (n.166-33_166-32delinsCG) | |
14 | g.90404424_90404425delinsCT | CA2579772928 | CALM1 | c.331_332delinsCT (p.Thr111Leu) c.223_224delinsCT (p.Thr75Leu) c.334_335delinsCT (p.Thr112Leu) c.203_204delinsCT (p.Asp68Ala) c.224_225delinsCT (p.Asp75Ala) n.2461_2462delinsCT n.383_384delinsCT n.257_258delinsCT c.166-33_166-32delinsCT (n.166-33_166-32delinsCT) | |
14 | g.90404424_90404425delinsGA | CA2579771776 | CALM1 | c.331_332delinsGA (p.Thr111Glu) c.223_224delinsGA (p.Thr75Glu) c.334_335delinsGA (p.Thr112Glu) c.203_204delinsGA (p.Asp68Gly) c.224_225delinsGA (p.Asp75Gly) n.2461_2462delinsGA n.383_384delinsGA n.257_258delinsGA c.166-33_166-32delinsGA (n.166-33_166-32delinsGA) | |
14 | g.90404424_90404425delinsGG | CA2579770943 | CALM1 | c.331_332delinsGG (p.Thr111Gly) c.223_224delinsGG (p.Thr75Gly) c.334_335delinsGG (p.Thr112Gly) c.203_204delinsGG (p.Asp68Gly) c.224_225delinsGG (p.Asp75Gly) n.2461_2462delinsGG n.383_384delinsGG n.257_258delinsGG c.166-33_166-32delinsGG (n.166-33_166-32delinsGG) | |
14 | g.90404424_90404425delinsGT | CA2579770351 | CALM1 | c.331_332delinsGT (p.Thr111Val) c.223_224delinsGT (p.Thr75Val) c.334_335delinsGT (p.Thr112Val) c.203_204delinsGT (p.Asp68Gly) c.224_225delinsGT (p.Asp75Gly) n.2461_2462delinsGT n.383_384delinsGT n.257_258delinsGT c.166-33_166-32delinsGT (n.166-33_166-32delinsGT) | |
14 | g.90404424_90404425delinsTA | CA2579770871 | CALM1 | c.331_332delinsTA (p.Thr111Ter) c.223_224delinsTA (p.Thr75Ter) c.334_335delinsTA (p.Thr112Ter) c.203_204delinsTA (p.Asp68Val) c.224_225delinsTA (p.Asp75Val) n.2461_2462delinsTA n.383_384delinsTA n.257_258delinsTA c.166-33_166-32delinsTA (n.166-33_166-32delinsTA) | |
14 | g.90404424_90404425delinsTG | CA2579770875 | CALM1 | c.331_332delinsTG (p.Thr111Ter) c.223_224delinsTG (p.Thr75Ter) c.334_335delinsTG (p.Thr112Ter) c.203_204delinsTG (p.Asp68Val) c.224_225delinsTG (p.Asp75Val) n.2461_2462delinsTG n.383_384delinsTG n.257_258delinsTG c.166-33_166-32delinsTG (n.166-33_166-32delinsTG) | |
14 | g.90404424_90404425delinsTT | CA2579770053 | CALM1 | c.331_332delinsTT (p.Thr111Leu) c.223_224delinsTT (p.Thr75Leu) c.334_335delinsTT (p.Thr112Leu) c.203_204delinsTT (p.Asp68Val) c.224_225delinsTT (p.Asp75Val) n.2461_2462delinsTT n.383_384delinsTT n.257_258delinsTT c.166-33_166-32delinsTT (n.166-33_166-32delinsTT) | |
14 | g.90404424_90404426delinsCCG | CA2579772218 | CALM1 | c.331_333delinsCCG (p.Thr111Pro) c.223_225delinsCCG (p.Thr75Pro) c.334_336delinsCCG (p.Thr112Pro) c.203_205delinsCCG (p.Asp68_Lys69delinsAlaGlu) c.224_226delinsCCG (p.Asp75_Lys76delinsAlaGlu) n.2461_2463delinsCCG n.383_385delinsCCG n.257_259delinsCCG c.166-33_166-31delinsCCG (n.166-33_166-31delinsCCG) | |
14 | g.90404424_90404426delinsCCT | CA2579770284 | CALM1 | c.331_333delinsCCT (p.Thr111Pro) c.223_225delinsCCT (p.Thr75Pro) c.334_336delinsCCT (p.Thr112Pro) c.203_205delinsCCT (p.Asp68AlafsTer2) c.224_226delinsCCT (p.Asp75AlafsTer2) n.2461_2463delinsCCT n.383_385delinsCCT n.257_259delinsCCT c.166-33_166-31delinsCCT (n.166-33_166-31delinsCCT) | |
14 | g.90404424_90404426delinsCGG | CA2579771153 | CALM1 | c.331_333delinsCGG (p.Thr111Arg) c.223_225delinsCGG (p.Thr75Arg) c.334_336delinsCGG (p.Thr112Arg) c.203_205delinsCGG (p.Asp68_Lys69delinsAlaGlu) c.224_226delinsCGG (p.Asp75_Lys76delinsAlaGlu) n.2461_2463delinsCGG n.383_385delinsCGG n.257_259delinsCGG c.166-33_166-31delinsCGG (n.166-33_166-31delinsCGG) | |
14 | g.90404424_90404426delinsCGT | CA2579774031 | CALM1 | c.331_333delinsCGT (p.Thr111Arg) c.223_225delinsCGT (p.Thr75Arg) c.334_336delinsCGT (p.Thr112Arg) c.203_205delinsCGT (p.Asp68AlafsTer2) c.224_226delinsCGT (p.Asp75AlafsTer2) n.2461_2463delinsCGT n.383_385delinsCGT n.257_259delinsCGT c.166-33_166-31delinsCGT (n.166-33_166-31delinsCGT) | |
14 | g.90404424_90404426delinsCTG | CA2579773475 | CALM1 | c.331_333delinsCTG (p.Thr111Leu) c.223_225delinsCTG (p.Thr75Leu) c.334_336delinsCTG (p.Thr112Leu) c.203_205delinsCTG (p.Asp68_Lys69delinsAlaGlu) c.224_226delinsCTG (p.Asp75_Lys76delinsAlaGlu) n.2461_2463delinsCTG n.383_385delinsCTG n.257_259delinsCTG c.166-33_166-31delinsCTG (n.166-33_166-31delinsCTG) | |
14 | g.90404424_90404426delinsCTT | CA2579771704 | CALM1 | c.331_333delinsCTT (p.Thr111Leu) c.223_225delinsCTT (p.Thr75Leu) c.334_336delinsCTT (p.Thr112Leu) c.203_205delinsCTT (p.Asp68AlafsTer2) c.224_226delinsCTT (p.Asp75AlafsTer2) n.2461_2463delinsCTT n.383_385delinsCTT n.257_259delinsCTT c.166-33_166-31delinsCTT (n.166-33_166-31delinsCTT) | |
14 | g.90404424_90404426delinsGAG | CA2579773816 | CALM1 | c.331_333delinsGAG (p.Thr111Glu) c.223_225delinsGAG (p.Thr75Glu) c.334_336delinsGAG (p.Thr112Glu) c.203_205delinsGAG (p.Asp68_Lys69delinsGlyGlu) c.224_226delinsGAG (p.Asp75_Lys76delinsGlyGlu) n.2461_2463delinsGAG n.383_385delinsGAG n.257_259delinsGAG c.166-33_166-31delinsGAG (n.166-33_166-31delinsGAG) | |
14 | g.90404424_90404426delinsGAT | CA2579772858 | CALM1 | c.331_333delinsGAT (p.Thr111Asp) c.223_225delinsGAT (p.Thr75Asp) c.334_336delinsGAT (p.Thr112Asp) c.203_205delinsGAT (p.Asp68GlyfsTer2) c.224_226delinsGAT (p.Asp75GlyfsTer2) n.2461_2463delinsGAT n.383_385delinsGAT n.257_259delinsGAT c.166-33_166-31delinsGAT (n.166-33_166-31delinsGAT) | |
14 | g.90404424_90404426delinsGCC | CA2579770088 | CALM1 | c.331_333delinsGCC (p.Thr111Ala) c.223_225delinsGCC (p.Thr75Ala) c.334_336delinsGCC (p.Thr112Ala) c.203_205delinsGCC (p.Asp68_Lys69delinsGlyGln) c.224_226delinsGCC (p.Asp75_Lys76delinsGlyGln) n.2461_2463delinsGCC n.383_385delinsGCC n.257_259delinsGCC c.166-33_166-31delinsGCC (n.166-33_166-31delinsGCC) | |
14 | g.90404424_90404426delinsGCG | CA2579769846 | CALM1 | c.331_333delinsGCG (p.Thr111Ala) c.223_225delinsGCG (p.Thr75Ala) c.334_336delinsGCG (p.Thr112Ala) c.203_205delinsGCG (p.Asp68_Lys69delinsGlyGlu) c.224_226delinsGCG (p.Asp75_Lys76delinsGlyGlu) n.2461_2463delinsGCG n.383_385delinsGCG n.257_259delinsGCG c.166-33_166-31delinsGCG (n.166-33_166-31delinsGCG) | |
14 | g.90404424_90404426delinsGCT | CA2579773742 | CALM1 | c.331_333delinsGCT (p.Thr111Ala) c.223_225delinsGCT (p.Thr75Ala) c.334_336delinsGCT (p.Thr112Ala) c.203_205delinsGCT (p.Asp68GlyfsTer2) c.224_226delinsGCT (p.Asp75GlyfsTer2) n.2461_2463delinsGCT n.383_385delinsGCT n.257_259delinsGCT c.166-33_166-31delinsGCT (n.166-33_166-31delinsGCT) | |
14 | g.90404424_90404426delinsGGG | CA2579773640 | CALM1 | c.331_333delinsGGG (p.Thr111Gly) c.223_225delinsGGG (p.Thr75Gly) c.334_336delinsGGG (p.Thr112Gly) c.203_205delinsGGG (p.Asp68_Lys69delinsGlyGlu) c.224_226delinsGGG (p.Asp75_Lys76delinsGlyGlu) n.2461_2463delinsGGG n.383_385delinsGGG n.257_259delinsGGG c.166-33_166-31delinsGGG (n.166-33_166-31delinsGGG) | |
14 | g.90404424_90404426delinsGGT | CA2579773999 | CALM1 | c.331_333delinsGGT (p.Thr111Gly) c.223_225delinsGGT (p.Thr75Gly) c.334_336delinsGGT (p.Thr112Gly) c.203_205delinsGGT (p.Asp68GlyfsTer2) c.224_226delinsGGT (p.Asp75GlyfsTer2) n.2461_2463delinsGGT n.383_385delinsGGT n.257_259delinsGGT c.166-33_166-31delinsGGT (n.166-33_166-31delinsGGT) | |
14 | g.90404424_90404426delinsGTG | CA2579774080 | CALM1 | c.331_333delinsGTG (p.Thr111Val) c.223_225delinsGTG (p.Thr75Val) c.334_336delinsGTG (p.Thr112Val) c.203_205delinsGTG (p.Asp68_Lys69delinsGlyGlu) c.224_226delinsGTG (p.Asp75_Lys76delinsGlyGlu) n.2461_2463delinsGTG n.383_385delinsGTG n.257_259delinsGTG c.166-33_166-31delinsGTG (n.166-33_166-31delinsGTG) | |
14 | g.90404424_90404426delinsGTT | CA2579772637 | CALM1 | c.331_333delinsGTT (p.Thr111Val) c.223_225delinsGTT (p.Thr75Val) c.334_336delinsGTT (p.Thr112Val) c.203_205delinsGTT (p.Asp68GlyfsTer2) c.224_226delinsGTT (p.Asp75GlyfsTer2) n.2461_2463delinsGTT n.383_385delinsGTT n.257_259delinsGTT c.166-33_166-31delinsGTT (n.166-33_166-31delinsGTT) | |
14 | g.90404424_90404426delinsTAG | CA2579772910 | CALM1 | c.331_333delinsTAG (p.Thr111Ter) c.223_225delinsTAG (p.Thr75Ter) c.334_336delinsTAG (p.Thr112Ter) c.203_205delinsTAG (p.Asp68_Lys69delinsValGlu) c.224_226delinsTAG (p.Asp75_Lys76delinsValGlu) n.2461_2463delinsTAG n.383_385delinsTAG n.257_259delinsTAG c.166-33_166-31delinsTAG (n.166-33_166-31delinsTAG) | |
14 | g.90404424_90404426delinsTAT | CA2579770950 | CALM1 | c.331_333delinsTAT (p.Thr111Tyr) c.223_225delinsTAT (p.Thr75Tyr) c.334_336delinsTAT (p.Thr112Tyr) c.203_205delinsTAT (p.Asp68ValfsTer2) c.224_226delinsTAT (p.Asp75ValfsTer2) n.2461_2463delinsTAT n.383_385delinsTAT n.257_259delinsTAT c.166-33_166-31delinsTAT (n.166-33_166-31delinsTAT) | |
14 | g.90404424_90404426delinsTCC | CA2579773803 | CALM1 | c.331_333delinsTCC (p.Thr111Ser) c.223_225delinsTCC (p.Thr75Ser) c.334_336delinsTCC (p.Thr112Ser) c.203_205delinsTCC (p.Asp68_Lys69delinsValGln) c.224_226delinsTCC (p.Asp75_Lys76delinsValGln) n.2461_2463delinsTCC n.383_385delinsTCC n.257_259delinsTCC c.166-33_166-31delinsTCC (n.166-33_166-31delinsTCC) | |
14 | g.90404424_90404426delinsTCG | CA2579770155 | CALM1 | c.331_333delinsTCG (p.Thr111Ser) c.223_225delinsTCG (p.Thr75Ser) c.334_336delinsTCG (p.Thr112Ser) c.203_205delinsTCG (p.Asp68_Lys69delinsValGlu) c.224_226delinsTCG (p.Asp75_Lys76delinsValGlu) n.2461_2463delinsTCG n.383_385delinsTCG n.257_259delinsTCG c.166-33_166-31delinsTCG (n.166-33_166-31delinsTCG) | |
14 | g.90404424_90404426delinsTCT | CA2579770549 | CALM1 | c.331_333delinsTCT (p.Thr111Ser) c.223_225delinsTCT (p.Thr75Ser) c.334_336delinsTCT (p.Thr112Ser) c.203_205delinsTCT (p.Asp68ValfsTer2) c.224_226delinsTCT (p.Asp75ValfsTer2) n.2461_2463delinsTCT n.383_385delinsTCT n.257_259delinsTCT c.166-33_166-31delinsTCT (n.166-33_166-31delinsTCT) | |
14 | g.90404424_90404426delinsTGG | CA2579771271 | CALM1 | c.331_333delinsTGG (p.Thr111Trp) c.223_225delinsTGG (p.Thr75Trp) c.334_336delinsTGG (p.Thr112Trp) c.203_205delinsTGG (p.Asp68_Lys69delinsValGlu) c.224_226delinsTGG (p.Asp75_Lys76delinsValGlu) n.2461_2463delinsTGG n.383_385delinsTGG n.257_259delinsTGG c.166-33_166-31delinsTGG (n.166-33_166-31delinsTGG) | |
14 | g.90404424_90404426delinsTGT | CA2579772854 | CALM1 | c.331_333delinsTGT (p.Thr111Cys) c.223_225delinsTGT (p.Thr75Cys) c.334_336delinsTGT (p.Thr112Cys) c.203_205delinsTGT (p.Asp68ValfsTer2) c.224_226delinsTGT (p.Asp75ValfsTer2) n.2461_2463delinsTGT n.383_385delinsTGT n.257_259delinsTGT c.166-33_166-31delinsTGT (n.166-33_166-31delinsTGT) | |
14 | g.90404424_90404426delinsTTG | CA2579773001 | CALM1 | c.331_333delinsTTG (p.Thr111Leu) c.223_225delinsTTG (p.Thr75Leu) c.334_336delinsTTG (p.Thr112Leu) c.203_205delinsTTG (p.Asp68_Lys69delinsValGlu) c.224_226delinsTTG (p.Asp75_Lys76delinsValGlu) n.2461_2463delinsTTG n.383_385delinsTTG n.257_259delinsTTG c.166-33_166-31delinsTTG (n.166-33_166-31delinsTTG) | |
14 | g.90404424_90404426delinsTTT | CA2579773256 | CALM1 | c.331_333delinsTTT (p.Thr111Phe) c.223_225delinsTTT (p.Thr75Phe) c.334_336delinsTTT (p.Thr112Phe) c.203_205delinsTTT (p.Asp68ValfsTer2) c.224_226delinsTTT (p.Asp75ValfsTer2) n.2461_2463delinsTTT n.383_385delinsTTT n.257_259delinsTTT c.166-33_166-31delinsTTT (n.166-33_166-31delinsTTT) | |
14 | g.90404425C>A | CA390690204 | CALM1 | c.332C>A (p.Thr111Lys) c.224C>A (p.Thr75Lys) c.335C>A (p.Thr112Lys) c.204C>A (p.Asp68Glu) c.225C>A (p.Asp75Glu) n.2462C>A n.384C>A n.258C>A c.166-32C>A (n.166-32C>A) | |
14 | g.90404425C>G | CA390690205 | CALM1 | c.332C>G (p.Thr111Arg) c.224C>G (p.Thr75Arg) c.335C>G (p.Thr112Arg) c.204C>G (p.Asp68Glu) c.225C>G (p.Asp75Glu) n.2462C>G n.384C>G n.258C>G c.166-32C>G (n.166-32C>G) | |
14 | g.90404425C>T | CA390690203 | CALM1 | c.332C>T (p.Thr111Ile) c.224C>T (p.Thr75Ile) c.335C>T (p.Thr112Ile) c.204C>T (p.Asp68=) c.225C>T (p.Asp75=) n.2462C>T n.384C>T n.258C>T c.166-32C>T (n.166-32C>T) | |
14 | g.90404425_90404426delinsAG | CA2579770097 | CALM1 | c.332_333delinsAG (p.Thr111Lys) c.224_225delinsAG (p.Thr75Lys) c.335_336delinsAG (p.Thr112Lys) c.204_205delinsAG (p.Asp68_Lys69delinsGluGlu) c.225_226delinsAG (p.Asp75_Lys76delinsGluGlu) n.2462_2463delinsAG n.384_385delinsAG n.258_259delinsAG c.166-32_166-31delinsAG (n.166-32_166-31delinsAG) | |
14 | g.90404425_90404426delinsAT | CA2579770805 | CALM1 | c.332_333delinsAT (p.Thr111Asn) c.224_225delinsAT (p.Thr75Asn) c.335_336delinsAT (p.Thr112Asn) c.204_205delinsAT (p.Asp68GlufsTer2) c.225_226delinsAT (p.Asp75GlufsTer2) n.2462_2463delinsAT n.384_385delinsAT n.258_259delinsAT c.166-32_166-31delinsAT (n.166-32_166-31delinsAT) | |
14 | g.90404425_90404426delinsGG | CA2579773806 | CALM1 | c.332_333delinsGG (p.Thr111Arg) c.224_225delinsGG (p.Thr75Arg) c.335_336delinsGG (p.Thr112Arg) c.204_205delinsGG (p.Asp68_Lys69delinsGluGlu) c.225_226delinsGG (p.Asp75_Lys76delinsGluGlu) n.2462_2463delinsGG n.384_385delinsGG n.258_259delinsGG c.166-32_166-31delinsGG (n.166-32_166-31delinsGG) | |
14 | g.90404425_90404426delinsGT | CA2579772701 | CALM1 | c.332_333delinsGT (p.Thr111Ser) c.224_225delinsGT (p.Thr75Ser) c.335_336delinsGT (p.Thr112Ser) c.204_205delinsGT (p.Asp68GlufsTer2) c.225_226delinsGT (p.Asp75GlufsTer2) n.2462_2463delinsGT n.384_385delinsGT n.258_259delinsGT c.166-32_166-31delinsGT (n.166-32_166-31delinsGT) | |
14 | g.90404425_90404426delinsTG | CA2579770558 | CALM1 | c.332_333delinsTG (p.Thr111Met) c.224_225delinsTG (p.Thr75Met) c.335_336delinsTG (p.Thr112Met) c.204_205delinsTG (p.Lys69Glu) c.225_226delinsTG (p.Lys76Glu) n.2462_2463delinsTG n.384_385delinsTG n.258_259delinsTG c.166-32_166-31delinsTG (n.166-32_166-31delinsTG) | |
14 | g.90404425_90404426delinsTT | CA2579772175 | CALM1 | c.332_333delinsTT (p.Thr111Ile) c.224_225delinsTT (p.Thr75Ile) c.335_336delinsTT (p.Thr112Ile) c.204_205delinsTT (p.Asp69Ter) c.225_226delinsTT (p.Asp76Ter) n.2462_2463delinsTT n.384_385delinsTT n.258_259delinsTT c.166-32_166-31delinsTT (n.166-32_166-31delinsTT) | |
14 | g.90404426A>C | CA487760166 | CALM1 | c.333A>C (p.Thr111=) c.225A>C (p.Thr75=) c.336A>C (p.Thr112=) c.205A>C (p.Lys69Gln) c.226A>C (p.Lys76Gln) n.2463A>C n.385A>C n.259A>C c.166-31A>C (n.166-31A>C) | gnomAD v4 |
14 | g.90404426A>G | CA487760169 | CALM1 | c.333A>G (p.Thr111=) c.225A>G (p.Thr75=) c.336A>G (p.Thr112=) c.205A>G (p.Lys69Glu) c.226A>G (p.Lys76Glu) n.2463A>G n.385A>G n.259A>G c.166-31A>G (n.166-31A>G) | |
14 | g.90404426A>T | CA487760171 | CALM1 | c.333A>T (p.Thr111=) c.225A>T (p.Thr75=) c.336A>T (p.Thr112=) c.205A>T (p.Lys69Ter) c.226A>T (p.Lys76Ter) n.2463A>T n.385A>T n.259A>T c.166-31A>T (n.166-31A>T) | |
14 | g.90404427A>C | CA390690206 | CALM1 | c.334A>C (p.Asn112His) c.226A>C (p.Asn76His) c.337A>C (p.Asn113His) c.206A>C (p.Lys69Thr) c.227A>C (p.Lys76Thr) n.2464A>C n.386A>C n.260A>C c.166-30A>C (n.166-30A>C) | |
14 | g.90404427A>G | CA390690207 | CALM1 | c.334A>G (p.Asn112Asp) c.226A>G (p.Asn76Asp) c.337A>G (p.Asn113Asp) c.206A>G (p.Lys69Arg) c.227A>G (p.Lys76Arg) n.2464A>G n.386A>G n.260A>G c.166-30A>G (n.166-30A>G) | |
14 | g.90404427A>T | CA390690208 | CALM1 | c.334A>T (p.Asn112Tyr) c.226A>T (p.Asn76Tyr) c.337A>T (p.Asn113Tyr) c.206A>T (p.Lys69Ile) c.227A>T (p.Lys76Ile) n.2464A>T n.386A>T n.260A>T c.166-30A>T (n.166-30A>T) | |
14 | g.90404427_90404428delinsCG | CA2579773748 | CALM1 | c.334_335delinsCG (p.Asn112Arg) c.226_227delinsCG (p.Asn76Arg) c.337_338delinsCG (p.Asn113Arg) c.206_207delinsCG (p.Lys69Thr) c.227_228delinsCG (p.Lys76Thr) n.2464_2465delinsCG n.386_387delinsCG n.260_261delinsCG c.166-30_166-29delinsCG (n.166-30_166-29delinsCG) | |
14 | g.90404427_90404428delinsCT | CA2579772012 | CALM1 | c.334_335delinsCT (p.Asn112Leu) c.226_227delinsCT (p.Asn76Leu) c.337_338delinsCT (p.Asn113Leu) c.206_207delinsCT (p.Lys69Thr) c.227_228delinsCT (p.Lys76Thr) n.2464_2465delinsCT n.386_387delinsCT n.260_261delinsCT c.166-30_166-29delinsCT (n.166-30_166-29delinsCT) | |
14 | g.90404427_90404428delinsGC | CA2579772085 | CALM1 | c.334_335delinsGC (p.Asn112Ala) c.226_227delinsGC (p.Asn76Ala) c.337_338delinsGC (p.Asn113Ala) c.206_207delinsGC (p.Lys69Ser) c.227_228delinsGC (p.Lys76Ser) n.2464_2465delinsGC n.386_387delinsGC n.260_261delinsGC c.166-30_166-29delinsGC (n.166-30_166-29delinsGC) | |
14 | g.90404427_90404428delinsGG | CA2579769972 | CALM1 | c.334_335delinsGG (p.Asn112Gly) c.226_227delinsGG (p.Asn76Gly) c.337_338delinsGG (p.Asn113Gly) c.206_207delinsGG (p.Lys69Arg) c.227_228delinsGG (p.Lys76Arg) n.2464_2465delinsGG n.386_387delinsGG n.260_261delinsGG c.166-30_166-29delinsGG (n.166-30_166-29delinsGG) | |
14 | g.90404427_90404428delinsTC | CA2579774097 | CALM1 | c.334_335delinsTC (p.Asn112Ser) c.226_227delinsTC (p.Asn76Ser) c.337_338delinsTC (p.Asn113Ser) c.206_207delinsTC (p.Lys69Ile) c.227_228delinsTC (p.Lys76Ile) n.2464_2465delinsTC n.386_387delinsTC n.260_261delinsTC c.166-30_166-29delinsTC (n.166-30_166-29delinsTC) | |
14 | g.90404427_90404428delinsTG | CA2579772493 | CALM1 | c.334_335delinsTG (p.Asn112Cys) c.226_227delinsTG (p.Asn76Cys) c.337_338delinsTG (p.Asn113Cys) c.206_207delinsTG (p.Lys69Met) c.227_228delinsTG (p.Lys76Met) n.2464_2465delinsTG n.386_387delinsTG n.260_261delinsTG c.166-30_166-29delinsTG (n.166-30_166-29delinsTG) | |
14 | g.90404427_90404428delinsTT | CA2579771358 | CALM1 | c.334_335delinsTT (p.Asn112Phe) c.226_227delinsTT (p.Asn76Phe) c.337_338delinsTT (p.Asn113Phe) c.206_207delinsTT (p.Lys69Ile) c.227_228delinsTT (p.Lys76Ile) n.2464_2465delinsTT n.386_387delinsTT n.260_261delinsTT c.166-30_166-29delinsTT (n.166-30_166-29delinsTT) | |
14 | g.90404427_90404429delinsCAT | CA2579770676 | CALM1 | c.334_336delinsCAT (p.Asn112His) c.226_228delinsCAT (p.Asn76His) c.337_339delinsCAT (p.Asn113His) c.206_208delinsCAT (p.Lys69_Leu70delinsThrPhe) c.227_229delinsCAT (p.Lys76_Leu77delinsThrPhe) n.2464_2466delinsCAT n.386_388delinsCAT n.260_262delinsCAT c.166-30_166-28delinsCAT (n.166-30_166-28delinsCAT) | |
14 | g.90404427_90404429delinsCCT | CA2579772879 | CALM1 | c.334_336delinsCCT (p.Asn112Pro) c.226_228delinsCCT (p.Asn76Pro) c.337_339delinsCCT (p.Asn113Pro) c.206_208delinsCCT (p.Lys69_Leu70delinsThrPhe) c.227_229delinsCCT (p.Lys76_Leu77delinsThrPhe) n.2464_2466delinsCCT n.386_388delinsCCT n.260_262delinsCCT c.166-30_166-28delinsCCT (n.166-30_166-28delinsCCT) | |
14 | g.90404427_90404429delinsCGT | CA2579771685 | CALM1 | c.334_336delinsCGT (p.Asn112Arg) c.226_228delinsCGT (p.Asn76Arg) c.337_339delinsCGT (p.Asn113Arg) c.206_208delinsCGT (p.Lys69_Leu70delinsThrPhe) c.227_229delinsCGT (p.Lys76_Leu77delinsThrPhe) n.2464_2466delinsCGT n.386_388delinsCGT n.260_262delinsCGT c.166-30_166-28delinsCGT (n.166-30_166-28delinsCGT) | |
14 | g.90404427_90404429delinsCTT | CA2579774192 | CALM1 | c.334_336delinsCTT (p.Asn112Leu) c.226_228delinsCTT (p.Asn76Leu) c.337_339delinsCTT (p.Asn113Leu) c.206_208delinsCTT (p.Lys69_Leu70delinsThrPhe) c.227_229delinsCTT (p.Lys76_Leu77delinsThrPhe) n.2464_2466delinsCTT n.386_388delinsCTT n.260_262delinsCTT c.166-30_166-28delinsCTT (n.166-30_166-28delinsCTT) | |
14 | g.90404427_90404429delinsGAT | CA2579771110 | CALM1 | c.334_336delinsGAT (p.Asn112Asp) c.226_228delinsGAT (p.Asn76Asp) c.337_339delinsGAT (p.Asn113Asp) c.206_208delinsGAT (p.Lys69_Leu70delinsArgPhe) c.227_229delinsGAT (p.Lys76_Leu77delinsArgPhe) n.2464_2466delinsGAT n.386_388delinsGAT n.260_262delinsGAT c.166-30_166-28delinsGAT (n.166-30_166-28delinsGAT) | |
14 | g.90404427_90404429delinsGCT | CA2579772809 | CALM1 | c.334_336delinsGCT (p.Asn112Ala) c.226_228delinsGCT (p.Asn76Ala) c.337_339delinsGCT (p.Asn113Ala) c.206_208delinsGCT (p.Lys69_Leu70delinsSerPhe) c.227_229delinsGCT (p.Lys76_Leu77delinsSerPhe) n.2464_2466delinsGCT n.386_388delinsGCT n.260_262delinsGCT c.166-30_166-28delinsGCT (n.166-30_166-28delinsGCT) | |
14 | g.90404427_90404429delinsGGT | CA2579772338 | CALM1 | c.334_336delinsGGT (p.Asn112Gly) c.226_228delinsGGT (p.Asn76Gly) c.337_339delinsGGT (p.Asn113Gly) c.206_208delinsGGT (p.Lys69_Leu70delinsArgPhe) c.227_229delinsGGT (p.Lys76_Leu77delinsArgPhe) n.2464_2466delinsGGT n.386_388delinsGGT n.260_262delinsGGT c.166-30_166-28delinsGGT (n.166-30_166-28delinsGGT) | |
14 | g.90404427_90404429delinsTAG | CA2579774310 | CALM1 | c.334_336delinsTAG (p.Asn112Ter) c.226_228delinsTAG (p.Asn76Ter) c.337_339delinsTAG (p.Asn113Ter) c.206_208delinsTAG (p.Lys69_Leu70delinsIleVal) c.227_229delinsTAG (p.Lys76_Leu77delinsIleVal) n.2464_2466delinsTAG n.386_388delinsTAG n.260_262delinsTAG c.166-30_166-28delinsTAG (n.166-30_166-28delinsTAG) | |
14 | g.90404427_90404429delinsTAT | CA2579773779 | CALM1 | c.334_336delinsTAT (p.Asn112Tyr) c.226_228delinsTAT (p.Asn76Tyr) c.337_339delinsTAT (p.Asn113Tyr) c.206_208delinsTAT (p.Lys69_Leu70delinsIlePhe) c.227_229delinsTAT (p.Lys76_Leu77delinsIlePhe) n.2464_2466delinsTAT n.386_388delinsTAT n.260_262delinsTAT c.166-30_166-28delinsTAT (n.166-30_166-28delinsTAT) | |
14 | g.90404427_90404429delinsTCT | CA2579772508 | CALM1 | c.334_336delinsTCT (p.Asn112Ser) c.226_228delinsTCT (p.Asn76Ser) c.337_339delinsTCT (p.Asn113Ser) c.206_208delinsTCT (p.Lys69_Leu70delinsIlePhe) c.227_229delinsTCT (p.Lys76_Leu77delinsIlePhe) n.2464_2466delinsTCT n.386_388delinsTCT n.260_262delinsTCT c.166-30_166-28delinsTCT (n.166-30_166-28delinsTCT) | |
14 | g.90404427_90404429delinsTGT | CA2579770624 | CALM1 | c.334_336delinsTGT (p.Asn112Cys) c.226_228delinsTGT (p.Asn76Cys) c.337_339delinsTGT (p.Asn113Cys) c.206_208delinsTGT (p.Lys69_Leu70delinsMetPhe) c.227_229delinsTGT (p.Lys76_Leu77delinsMetPhe) n.2464_2466delinsTGT n.386_388delinsTGT n.260_262delinsTGT c.166-30_166-28delinsTGT (n.166-30_166-28delinsTGT) | |
14 | g.90404427_90404429delinsTTT | CA2579772159 | CALM1 | c.334_336delinsTTT (p.Asn112Phe) c.226_228delinsTTT (p.Asn76Phe) c.337_339delinsTTT (p.Asn113Phe) c.206_208delinsTTT (p.Lys69_Leu70delinsIlePhe) c.227_229delinsTTT (p.Lys76_Leu77delinsIlePhe) n.2464_2466delinsTTT n.386_388delinsTTT n.260_262delinsTTT c.166-30_166-28delinsTTT (n.166-30_166-28delinsTTT) | |
14 | g.90404428A>C | CA390690209 | CALM1 | c.335A>C (p.Asn112Thr) c.227A>C (p.Asn76Thr) c.338A>C (p.Asn113Thr) c.207A>C (p.Lys69Asn) c.228A>C (p.Lys76Asn) n.2465A>C n.387A>C n.261A>C c.166-29A>C (n.166-29A>C) | |
14 | g.90404428A>G | CA390690210 | CALM1 | c.335A>G (p.Asn112Ser) c.227A>G (p.Asn76Ser) c.338A>G (p.Asn113Ser) c.207A>G (p.Lys69=) c.228A>G (p.Lys76=) n.2465A>G n.387A>G n.261A>G c.166-29A>G (n.166-29A>G) | |
14 | g.90404428A>T | CA390690211 | CALM1 | c.335A>T (p.Asn112Ile) c.227A>T (p.Asn76Ile) c.338A>T (p.Asn113Ile) c.207A>T (p.Lys69Asn) c.228A>T (p.Lys76Asn) n.2465A>T n.387A>T n.261A>T c.166-29A>T (n.166-29A>T) | |
14 | g.90404428_90404429delinsCT | CA2579770532 | CALM1 | c.335_336delinsCT (p.Asn112Thr) c.227_228delinsCT (p.Asn76Thr) c.338_339delinsCT (p.Asn113Thr) c.207_208delinsCT (p.Lys69_Leu70delinsAsnPhe) c.228_229delinsCT (p.Lys76_Leu77delinsAsnPhe) n.2465_2466delinsCT n.387_388delinsCT n.261_262delinsCT c.166-29_166-28delinsCT (n.166-29_166-28delinsCT) | |
14 | g.90404428_90404429delinsGA | CA2579772822 | CALM1 | c.335_336delinsGA (p.Asn112Arg) c.227_228delinsGA (p.Asn76Arg) c.338_339delinsGA (p.Asn113Arg) c.207_208delinsGA (p.Leu70Ile) c.228_229delinsGA (p.Leu77Ile) n.2465_2466delinsGA n.387_388delinsGA n.261_262delinsGA c.166-29_166-28delinsGA (n.166-29_166-28delinsGA) | |
14 | g.90404428_90404429delinsGG | CA2579773138 | CALM1 | c.335_336delinsGG (p.Asn112Arg) c.227_228delinsGG (p.Asn76Arg) c.338_339delinsGG (p.Asn113Arg) c.207_208delinsGG (p.Leu70Val) c.228_229delinsGG (p.Leu77Val) n.2465_2466delinsGG n.387_388delinsGG n.261_262delinsGG c.166-29_166-28delinsGG (n.166-29_166-28delinsGG) | |
14 | g.90404428_90404429delinsGT | CA2579771820 | CALM1 | c.335_336delinsGT (p.Asn112Ser) c.227_228delinsGT (p.Asn76Ser) c.338_339delinsGT (p.Asn113Ser) c.207_208delinsGT (p.Leu70Phe) c.228_229delinsGT (p.Leu77Phe) n.2465_2466delinsGT n.387_388delinsGT n.261_262delinsGT c.166-29_166-28delinsGT (n.166-29_166-28delinsGT) | |
14 | g.90404428_90404429delinsTA | CA2579774015 | CALM1 | c.335_336delinsTA (p.Asn112Ile) c.227_228delinsTA (p.Asn76Ile) c.338_339delinsTA (p.Asn113Ile) c.207_208delinsTA (p.Lys69_Leu70delinsAsnIle) c.228_229delinsTA (p.Lys76_Leu77delinsAsnIle) n.2465_2466delinsTA n.387_388delinsTA n.261_262delinsTA c.166-29_166-28delinsTA (n.166-29_166-28delinsTA) | |
14 | g.90404428_90404429delinsTT | CA2579769891 | CALM1 | c.335_336delinsTT (p.Asn112Ile) c.227_228delinsTT (p.Asn76Ile) c.338_339delinsTT (p.Asn113Ile) c.207_208delinsTT (p.Lys69_Leu70delinsAsnPhe) c.228_229delinsTT (p.Lys76_Leu77delinsAsnPhe) n.2465_2466delinsTT n.387_388delinsTT n.261_262delinsTT c.166-29_166-28delinsTT (n.166-29_166-28delinsTT) | |
14 | g.90404429C>A | CA390690212 | CALM1 | c.336C>A (p.Asn112Lys) c.228C>A (p.Asn76Lys) c.339C>A (p.Asn113Lys) c.208C>A (p.Leu70Ile) c.229C>A (p.Leu77Ile) n.2466C>A n.388C>A n.262C>A c.166-28C>A (n.166-28C>A) | |
14 | g.90404429C= | CA2154484120 | CALM1 | c.336C= (p.Asn112=) c.228C= (p.Asn76=) c.339C= (p.Asn113=) c.208C= (p.Leu70=) c.229C= (p.Leu77=) n.2466C= n.388C= n.262C= c.166-28C= (n.166-28C=) | |
14 | g.90404429C>G | CA390690213 | CALM1 | c.336C>G (p.Asn112Lys) c.228C>G (p.Asn76Lys) c.339C>G (p.Asn113Lys) c.208C>G (p.Leu70Val) c.229C>G (p.Leu77Val) n.2466C>G n.388C>G n.262C>G c.166-28C>G (n.166-28C>G) | |
14 | g.90404429C>T | CA7305798 | CALM1 | c.336C>T (p.Asn112=) c.228C>T (p.Asn76=) c.339C>T (p.Asn113=) c.208C>T (p.Leu70Phe) c.229C>T (p.Leu77Phe) n.2466C>T n.388C>T n.262C>T c.166-28C>T (n.166-28C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404430T>A | CA390690214 | CALM1 | c.337T>A (p.Leu113Ile) c.229T>A (p.Leu77Ile) c.340T>A (p.Leu114Ile) c.209T>A (p.Leu70His) c.230T>A (p.Leu77His) n.2467T>A n.389T>A n.263T>A c.166-27T>A (n.166-27T>A) | |
14 | g.90404430T>C | CA487760187 | CALM1 | c.337T>C (p.Leu113=) c.229T>C (p.Leu77=) c.340T>C (p.Leu114=) c.209T>C (p.Leu70Pro) c.230T>C (p.Leu77Pro) n.2467T>C n.389T>C n.263T>C c.166-27T>C (n.166-27T>C) | |
14 | g.90404430T>G | CA390690215 | CALM1 | c.337T>G (p.Leu113Val) c.229T>G (p.Leu77Val) c.340T>G (p.Leu114Val) c.209T>G (p.Leu70Arg) c.230T>G (p.Leu77Arg) n.2467T>G n.389T>G n.263T>G c.166-27T>G (n.166-27T>G) | |
14 | g.90404430_90404431delinsAA | CA2579771945 | CALM1 | c.337_338delinsAA (p.Leu113Lys) c.229_230delinsAA (p.Leu77Lys) c.340_341delinsAA (p.Leu114Lys) c.209_210delinsAA (p.Leu70Gln) c.230_231delinsAA (p.Leu77Gln) n.2467_2468delinsAA n.389_390delinsAA n.263_264delinsAA c.166-27_166-26delinsAA (n.166-27_166-26delinsAA) | |
14 | g.90404430_90404431delinsAC | CA2579772134 | CALM1 | c.337_338delinsAC (p.Leu113Thr) c.229_230delinsAC (p.Leu77Thr) c.340_341delinsAC (p.Leu114Thr) c.209_210delinsAC (p.Leu70His) c.230_231delinsAC (p.Leu77His) n.2467_2468delinsAC n.389_390delinsAC n.263_264delinsAC c.166-27_166-26delinsAC (n.166-27_166-26delinsAC) | |
14 | g.90404430_90404431delinsAG | CA2579771033 | CALM1 | c.337_338delinsAG (p.Leu113Arg) c.229_230delinsAG (p.Leu77Arg) c.340_341delinsAG (p.Leu114Arg) c.209_210delinsAG (p.Leu70Gln) c.230_231delinsAG (p.Leu77Gln) n.2467_2468delinsAG n.389_390delinsAG n.263_264delinsAG c.166-27_166-26delinsAG (n.166-27_166-26delinsAG) | |
14 | g.90404430_90404431delinsCA | CA2579773405 | CALM1 | c.337_338delinsCA (p.Leu113Gln) c.229_230delinsCA (p.Leu77Gln) c.340_341delinsCA (p.Leu114Gln) c.209_210delinsCA (p.Leu70Pro) c.230_231delinsCA (p.Leu77Pro) n.2467_2468delinsCA n.389_390delinsCA n.263_264delinsCA c.166-27_166-26delinsCA (n.166-27_166-26delinsCA) | |
14 | g.90404430_90404431delinsCC | CA2579770072 | CALM1 | c.337_338delinsCC (p.Leu113Pro) c.229_230delinsCC (p.Leu77Pro) c.340_341delinsCC (p.Leu114Pro) c.209_210delinsCC (p.Leu70Pro) c.230_231delinsCC (p.Leu77Pro) n.2467_2468delinsCC n.389_390delinsCC n.263_264delinsCC c.166-27_166-26delinsCC (n.166-27_166-26delinsCC) | |
14 | g.90404430_90404431delinsCG | CA2579773547 | CALM1 | c.337_338delinsCG (p.Leu113Arg) c.229_230delinsCG (p.Leu77Arg) c.340_341delinsCG (p.Leu114Arg) c.209_210delinsCG (p.Leu70Pro) c.230_231delinsCG (p.Leu77Pro) n.2467_2468delinsCG n.389_390delinsCG n.263_264delinsCG c.166-27_166-26delinsCG (n.166-27_166-26delinsCG) | |
14 | g.90404430_90404431delinsGA | CA2579772995 | CALM1 | c.337_338delinsGA (p.Leu113Glu) c.229_230delinsGA (p.Leu77Glu) c.340_341delinsGA (p.Leu114Glu) c.209_210delinsGA (p.Leu70Arg) c.230_231delinsGA (p.Leu77Arg) n.2467_2468delinsGA n.389_390delinsGA n.263_264delinsGA c.166-27_166-26delinsGA (n.166-27_166-26delinsGA) | |
14 | g.90404430_90404431delinsGC | CA2579772061 | CALM1 | c.337_338delinsGC (p.Leu113Ala) c.229_230delinsGC (p.Leu77Ala) c.340_341delinsGC (p.Leu114Ala) c.209_210delinsGC (p.Leu70Arg) c.230_231delinsGC (p.Leu77Arg) n.2467_2468delinsGC n.389_390delinsGC n.263_264delinsGC c.166-27_166-26delinsGC (n.166-27_166-26delinsGC) | |
14 | g.90404430_90404431delinsGG | CA2579773220 | CALM1 | c.337_338delinsGG (p.Leu113Gly) c.229_230delinsGG (p.Leu77Gly) c.340_341delinsGG (p.Leu114Gly) c.209_210delinsGG (p.Leu70Arg) c.230_231delinsGG (p.Leu77Arg) n.2467_2468delinsGG n.389_390delinsGG n.263_264delinsGG c.166-27_166-26delinsGG (n.166-27_166-26delinsGG) | |
14 | g.90404430_90404432delinsAAG | CA2579770454 | CALM1 | c.337_339delinsAAG (p.Leu113Lys) c.229_231delinsAAG (p.Leu77Lys) c.340_342delinsAAG (p.Leu114Lys) c.209_211delinsAAG (p.Leu70_Arg71delinsGlnGly) c.230_232delinsAAG (p.Leu77_Arg78delinsGlnGly) n.2467_2469delinsAAG n.389_391delinsAAG n.263_265delinsAAG c.166-27_166-25delinsAAG (n.166-27_166-25delinsAAG) | |
14 | g.90404430_90404432delinsAAT | CA2579774024 | CALM1 | c.337_339delinsAAT (p.Leu113Asn) c.229_231delinsAAT (p.Leu77Asn) c.340_342delinsAAT (p.Leu114Asn) c.209_211delinsAAT (p.Leu70_Arg71delinsGlnTrp) c.230_232delinsAAT (p.Leu77_Arg78delinsGlnTrp) n.2467_2469delinsAAT n.389_391delinsAAT n.263_265delinsAAT c.166-27_166-25delinsAAT (n.166-27_166-25delinsAAT) | |
14 | g.90404430_90404432delinsACG | CA2579772485 | CALM1 | c.337_339delinsACG (p.Leu113Thr) c.229_231delinsACG (p.Leu77Thr) c.340_342delinsACG (p.Leu114Thr) c.209_211delinsACG (p.Leu70_Arg71delinsHisGly) c.230_232delinsACG (p.Leu77_Arg78delinsHisGly) n.2467_2469delinsACG n.389_391delinsACG n.263_265delinsACG c.166-27_166-25delinsACG (n.166-27_166-25delinsACG) | |
14 | g.90404430_90404432delinsACT | CA2579769739 | CALM1 | c.337_339delinsACT (p.Leu113Thr) c.229_231delinsACT (p.Leu77Thr) c.340_342delinsACT (p.Leu114Thr) c.209_211delinsACT (p.Leu70_Arg71delinsHisTrp) c.230_232delinsACT (p.Leu77_Arg78delinsHisTrp) n.2467_2469delinsACT n.389_391delinsACT n.263_265delinsACT c.166-27_166-25delinsACT (n.166-27_166-25delinsACT) | |
14 | g.90404430_90404432delinsAGG | CA2579771896 | CALM1 | c.337_339delinsAGG (p.Leu113Arg) c.229_231delinsAGG (p.Leu77Arg) c.340_342delinsAGG (p.Leu114Arg) c.209_211delinsAGG (p.Leu70_Arg71delinsGlnGly) c.230_232delinsAGG (p.Leu77_Arg78delinsGlnGly) n.2467_2469delinsAGG n.389_391delinsAGG n.263_265delinsAGG c.166-27_166-25delinsAGG (n.166-27_166-25delinsAGG) | |
14 | g.90404430_90404432delinsAGT | CA2579772534 | CALM1 | c.337_339delinsAGT (p.Leu113Ser) c.229_231delinsAGT (p.Leu77Ser) c.340_342delinsAGT (p.Leu114Ser) c.209_211delinsAGT (p.Leu70_Arg71delinsGlnTrp) c.230_232delinsAGT (p.Leu77_Arg78delinsGlnTrp) n.2467_2469delinsAGT n.389_391delinsAGT n.263_265delinsAGT c.166-27_166-25delinsAGT (n.166-27_166-25delinsAGT) | |
14 | g.90404430_90404432delinsATC | CA2579773681 | CALM1 | c.337_339delinsATC (p.Leu113Ile) c.229_231delinsATC (p.Leu77Ile) c.340_342delinsATC (p.Leu114Ile) c.209_211delinsATC (p.Leu70His) c.230_232delinsATC (p.Leu77His) n.2467_2469delinsATC n.389_391delinsATC n.263_265delinsATC c.166-27_166-25delinsATC (n.166-27_166-25delinsATC) | |
14 | g.90404430_90404432delinsATG | CA2579770996 | CALM1 | c.337_339delinsATG (p.Leu113Met) c.229_231delinsATG (p.Leu77Met) c.340_342delinsATG (p.Leu114Met) c.209_211delinsATG (p.Leu70_Arg71delinsHisGly) c.230_232delinsATG (p.Leu77_Arg78delinsHisGly) n.2467_2469delinsATG n.389_391delinsATG n.263_265delinsATG c.166-27_166-25delinsATG (n.166-27_166-25delinsATG) | |
14 | g.90404430_90404432delinsATT | CA2579771531 | CALM1 | c.337_339delinsATT (p.Leu113Ile) c.229_231delinsATT (p.Leu77Ile) c.340_342delinsATT (p.Leu114Ile) c.209_211delinsATT (p.Leu70_Arg71delinsHisTrp) c.230_232delinsATT (p.Leu77_Arg78delinsHisTrp) n.2467_2469delinsATT n.389_391delinsATT n.263_265delinsATT c.166-27_166-25delinsATT (n.166-27_166-25delinsATT) | |
14 | g.90404430_90404432delinsCAC | CA2579773947 | CALM1 | c.337_339delinsCAC (p.Leu113His) c.229_231delinsCAC (p.Leu77His) c.340_342delinsCAC (p.Leu114His) c.209_211delinsCAC (p.Leu70Pro) c.230_232delinsCAC (p.Leu77Pro) n.2467_2469delinsCAC n.389_391delinsCAC n.263_265delinsCAC c.166-27_166-25delinsCAC (n.166-27_166-25delinsCAC) | |
14 | g.90404430_90404432delinsCAG | CA2579773631 | CALM1 | c.337_339delinsCAG (p.Leu113Gln) c.229_231delinsCAG (p.Leu77Gln) c.340_342delinsCAG (p.Leu114Gln) c.209_211delinsCAG (p.Leu70_Arg71delinsProGly) c.230_232delinsCAG (p.Leu77_Arg78delinsProGly) n.2467_2469delinsCAG n.389_391delinsCAG n.263_265delinsCAG c.166-27_166-25delinsCAG (n.166-27_166-25delinsCAG) | |
14 | g.90404430_90404432delinsCAT | CA2579770604 | CALM1 | c.337_339delinsCAT (p.Leu113His) c.229_231delinsCAT (p.Leu77His) c.340_342delinsCAT (p.Leu114His) c.209_211delinsCAT (p.Leu70_Arg71delinsProTrp) c.230_232delinsCAT (p.Leu77_Arg78delinsProTrp) n.2467_2469delinsCAT n.389_391delinsCAT n.263_265delinsCAT c.166-27_166-25delinsCAT (n.166-27_166-25delinsCAT) | |
14 | g.90404430_90404432delinsCCC | CA2579770772 | CALM1 | c.337_339delinsCCC (p.Leu113Pro) c.229_231delinsCCC (p.Leu77Pro) c.340_342delinsCCC (p.Leu114Pro) c.209_211delinsCCC (p.Leu70Pro) c.230_232delinsCCC (p.Leu77Pro) n.2467_2469delinsCCC n.389_391delinsCCC n.263_265delinsCCC c.166-27_166-25delinsCCC (n.166-27_166-25delinsCCC) | |
14 | g.90404430_90404432delinsCCG | CA2579770355 | CALM1 | c.337_339delinsCCG (p.Leu113Pro) c.229_231delinsCCG (p.Leu77Pro) c.340_342delinsCCG (p.Leu114Pro) c.209_211delinsCCG (p.Leu70_Arg71delinsProGly) c.230_232delinsCCG (p.Leu77_Arg78delinsProGly) n.2467_2469delinsCCG n.389_391delinsCCG n.263_265delinsCCG c.166-27_166-25delinsCCG (n.166-27_166-25delinsCCG) | |
14 | g.90404430_90404432delinsCCT | CA2579773156 | CALM1 | c.337_339delinsCCT (p.Leu113Pro) c.229_231delinsCCT (p.Leu77Pro) c.340_342delinsCCT (p.Leu114Pro) c.209_211delinsCCT (p.Leu70_Arg71delinsProTrp) c.230_232delinsCCT (p.Leu77_Arg78delinsProTrp) n.2467_2469delinsCCT n.389_391delinsCCT n.263_265delinsCCT c.166-27_166-25delinsCCT (n.166-27_166-25delinsCCT) | |
14 | g.90404430_90404432delinsCGG | CA2579769860 | CALM1 | c.337_339delinsCGG (p.Leu113Arg) c.229_231delinsCGG (p.Leu77Arg) c.340_342delinsCGG (p.Leu114Arg) c.209_211delinsCGG (p.Leu70_Arg71delinsProGly) c.230_232delinsCGG (p.Leu77_Arg78delinsProGly) n.2467_2469delinsCGG n.389_391delinsCGG n.263_265delinsCGG c.166-27_166-25delinsCGG (n.166-27_166-25delinsCGG) | |
14 | g.90404430_90404432delinsCGT | CA2579770234 | CALM1 | c.337_339delinsCGT (p.Leu113Arg) c.229_231delinsCGT (p.Leu77Arg) c.340_342delinsCGT (p.Leu114Arg) c.209_211delinsCGT (p.Leu70_Arg71delinsProTrp) c.230_232delinsCGT (p.Leu77_Arg78delinsProTrp) n.2467_2469delinsCGT n.389_391delinsCGT n.263_265delinsCGT c.166-27_166-25delinsCGT (n.166-27_166-25delinsCGT) | |
14 | g.90404430_90404432delinsCTC | CA2579772084 | CALM1 | c.337_339delinsCTC (p.Leu113=) c.229_231delinsCTC (p.Leu77=) c.340_342delinsCTC (p.Leu114=) c.209_211delinsCTC (p.Leu70Pro) c.230_232delinsCTC (p.Leu77Pro) n.2467_2469delinsCTC n.389_391delinsCTC n.263_265delinsCTC c.166-27_166-25delinsCTC (n.166-27_166-25delinsCTC) | |
14 | g.90404430_90404432delinsCTG | CA2579772726 | CALM1 | c.337_339delinsCTG (p.Leu113=) c.229_231delinsCTG (p.Leu77=) c.340_342delinsCTG (p.Leu114=) c.209_211delinsCTG (p.Leu70_Arg71delinsProGly) c.230_232delinsCTG (p.Leu77_Arg78delinsProGly) n.2467_2469delinsCTG n.389_391delinsCTG n.263_265delinsCTG c.166-27_166-25delinsCTG (n.166-27_166-25delinsCTG) | |
14 | g.90404430_90404432delinsCTT | CA2579773071 | CALM1 | c.337_339delinsCTT (p.Leu113=) c.229_231delinsCTT (p.Leu77=) c.340_342delinsCTT (p.Leu114=) c.209_211delinsCTT (p.Leu70_Arg71delinsProTrp) c.230_232delinsCTT (p.Leu77_Arg78delinsProTrp) n.2467_2469delinsCTT n.389_391delinsCTT n.263_265delinsCTT c.166-27_166-25delinsCTT (n.166-27_166-25delinsCTT) | |
14 | g.90404430_90404432delinsGAC | CA2579774270 | CALM1 | c.337_339delinsGAC (p.Leu113Asp) c.229_231delinsGAC (p.Leu77Asp) c.340_342delinsGAC (p.Leu114Asp) c.209_211delinsGAC (p.Leu70Arg) c.230_232delinsGAC (p.Leu77Arg) n.2467_2469delinsGAC n.389_391delinsGAC n.263_265delinsGAC c.166-27_166-25delinsGAC (n.166-27_166-25delinsGAC) | |
14 | g.90404430_90404432delinsGAG | CA2579772662 | CALM1 | c.337_339delinsGAG (p.Leu113Glu) c.229_231delinsGAG (p.Leu77Glu) c.340_342delinsGAG (p.Leu114Glu) c.209_211delinsGAG (p.Leu70_Arg71delinsArgGly) c.230_232delinsGAG (p.Leu77_Arg78delinsArgGly) n.2467_2469delinsGAG n.389_391delinsGAG n.263_265delinsGAG c.166-27_166-25delinsGAG (n.166-27_166-25delinsGAG) | |
14 | g.90404430_90404432delinsGAT | CA2579770569 | CALM1 | c.337_339delinsGAT (p.Leu113Asp) c.229_231delinsGAT (p.Leu77Asp) c.340_342delinsGAT (p.Leu114Asp) c.209_211delinsGAT (p.Leu70_Arg71delinsArgTrp) c.230_232delinsGAT (p.Leu77_Arg78delinsArgTrp) n.2467_2469delinsGAT n.389_391delinsGAT n.263_265delinsGAT c.166-27_166-25delinsGAT (n.166-27_166-25delinsGAT) | |
14 | g.90404430_90404432delinsGCG | CA2579769861 | CALM1 | c.337_339delinsGCG (p.Leu113Ala) c.229_231delinsGCG (p.Leu77Ala) c.340_342delinsGCG (p.Leu114Ala) c.209_211delinsGCG (p.Leu70_Arg71delinsArgGly) c.230_232delinsGCG (p.Leu77_Arg78delinsArgGly) n.2467_2469delinsGCG n.389_391delinsGCG n.263_265delinsGCG c.166-27_166-25delinsGCG (n.166-27_166-25delinsGCG) | |
14 | g.90404430_90404432delinsGCT | CA2579770763 | CALM1 | c.337_339delinsGCT (p.Leu113Ala) c.229_231delinsGCT (p.Leu77Ala) c.340_342delinsGCT (p.Leu114Ala) c.209_211delinsGCT (p.Leu70_Arg71delinsArgTrp) c.230_232delinsGCT (p.Leu77_Arg78delinsArgTrp) n.2467_2469delinsGCT n.389_391delinsGCT n.263_265delinsGCT c.166-27_166-25delinsGCT (n.166-27_166-25delinsGCT) | |
14 | g.90404430_90404432delinsGGG | CA2579773607 | CALM1 | c.337_339delinsGGG (p.Leu113Gly) c.229_231delinsGGG (p.Leu77Gly) c.340_342delinsGGG (p.Leu114Gly) c.209_211delinsGGG (p.Leu70_Arg71delinsArgGly) c.230_232delinsGGG (p.Leu77_Arg78delinsArgGly) n.2467_2469delinsGGG n.389_391delinsGGG n.263_265delinsGGG c.166-27_166-25delinsGGG (n.166-27_166-25delinsGGG) | |
14 | g.90404430_90404432delinsGGT | CA2579771958 | CALM1 | c.337_339delinsGGT (p.Leu113Gly) c.229_231delinsGGT (p.Leu77Gly) c.340_342delinsGGT (p.Leu114Gly) c.209_211delinsGGT (p.Leu70_Arg71delinsArgTrp) c.230_232delinsGGT (p.Leu77_Arg78delinsArgTrp) n.2467_2469delinsGGT n.389_391delinsGGT n.263_265delinsGGT c.166-27_166-25delinsGGT (n.166-27_166-25delinsGGT) | |
14 | g.90404430_90404432delinsGTG | CA2579769959 | CALM1 | c.337_339delinsGTG (p.Leu113Val) c.229_231delinsGTG (p.Leu77Val) c.340_342delinsGTG (p.Leu114Val) c.209_211delinsGTG (p.Leu70_Arg71delinsArgGly) c.230_232delinsGTG (p.Leu77_Arg78delinsArgGly) n.2467_2469delinsGTG n.389_391delinsGTG n.263_265delinsGTG c.166-27_166-25delinsGTG (n.166-27_166-25delinsGTG) | |
14 | g.90404430_90404432delinsGTT | CA2579771444 | CALM1 | c.337_339delinsGTT (p.Leu113Val) c.229_231delinsGTT (p.Leu77Val) c.340_342delinsGTT (p.Leu114Val) c.209_211delinsGTT (p.Leu70_Arg71delinsArgTrp) c.230_232delinsGTT (p.Leu77_Arg78delinsArgTrp) n.2467_2469delinsGTT n.389_391delinsGTT n.263_265delinsGTT c.166-27_166-25delinsGTT (n.166-27_166-25delinsGTT) | |
14 | g.90404431T>A | CA390690216 | CALM1 | c.338T>A (p.Leu113Ter) c.230T>A (p.Leu77Ter) c.341T>A (p.Leu114Ter) c.210T>A (p.Leu70=) c.231T>A (p.Leu77=) n.2468T>A n.390T>A n.264T>A c.166-26T>A (n.166-26T>A) | |
14 | g.90404431T>C | CA390690217 | CALM1 | c.338T>C (p.Leu113Ser) c.230T>C (p.Leu77Ser) c.341T>C (p.Leu114Ser) c.210T>C (p.Leu70=) c.231T>C (p.Leu77=) n.2468T>C n.390T>C n.264T>C c.166-26T>C (n.166-26T>C) | |
14 | g.90404431T>G | CA390690218 | CALM1 | c.338T>G (p.Leu113Ter) c.230T>G (p.Leu77Ter) c.341T>G (p.Leu114Ter) c.210T>G (p.Leu70=) c.231T>G (p.Leu77=) n.2468T>G n.390T>G n.264T>G c.166-26T>G (n.166-26T>G) | |
14 | g.90404431_90404432delinsAC | CA2579773414 | CALM1 | c.338_339delinsAC (p.Leu113Tyr) c.230_231delinsAC (p.Leu77Tyr) c.341_342delinsAC (p.Leu114Tyr) c.210_211delinsAC (p.Leu70=) c.231_232delinsAC (p.Leu77=) n.2468_2469delinsAC n.390_391delinsAC n.264_265delinsAC c.166-26_166-25delinsAC (n.166-26_166-25delinsAC) | |
14 | g.90404431_90404432delinsAG | CA2579773073 | CALM1 | c.338_339delinsAG (p.Leu113Ter) c.230_231delinsAG (p.Leu77Ter) c.341_342delinsAG (p.Leu114Ter) c.210_211delinsAG (p.Arg71Gly) c.231_232delinsAG (p.Arg78Gly) n.2468_2469delinsAG n.390_391delinsAG n.264_265delinsAG c.166-26_166-25delinsAG (n.166-26_166-25delinsAG) | |
14 | g.90404431_90404432delinsAT | CA2579773783 | CALM1 | c.338_339delinsAT (p.Leu113Tyr) c.230_231delinsAT (p.Leu77Tyr) c.341_342delinsAT (p.Leu114Tyr) c.210_211delinsAT (p.Arg71Trp) c.231_232delinsAT (p.Arg78Trp) n.2468_2469delinsAT n.390_391delinsAT n.264_265delinsAT c.166-26_166-25delinsAT (n.166-26_166-25delinsAT) | |
14 | g.90404431_90404432delinsCC | CA2579773227 | CALM1 | c.338_339delinsCC (p.Leu113Ser) c.230_231delinsCC (p.Leu77Ser) c.341_342delinsCC (p.Leu114Ser) c.210_211delinsCC (p.Leu70=) c.231_232delinsCC (p.Leu77=) n.2468_2469delinsCC n.390_391delinsCC n.264_265delinsCC c.166-26_166-25delinsCC (n.166-26_166-25delinsCC) | |
14 | g.90404431_90404432delinsCG | CA2579771319 | CALM1 | c.338_339delinsCG (p.Leu113Ser) c.230_231delinsCG (p.Leu77Ser) c.341_342delinsCG (p.Leu114Ser) c.210_211delinsCG (p.Arg71Gly) c.231_232delinsCG (p.Arg78Gly) n.2468_2469delinsCG n.390_391delinsCG n.264_265delinsCG c.166-26_166-25delinsCG (n.166-26_166-25delinsCG) | |
14 | g.90404431_90404432delinsCT | CA2579773707 | CALM1 | c.338_339delinsCT (p.Leu113Ser) c.230_231delinsCT (p.Leu77Ser) c.341_342delinsCT (p.Leu114Ser) c.210_211delinsCT (p.Arg71Trp) c.231_232delinsCT (p.Arg78Trp) n.2468_2469delinsCT n.390_391delinsCT n.264_265delinsCT c.166-26_166-25delinsCT (n.166-26_166-25delinsCT) | |
14 | g.90404431_90404432delinsGG | CA2579772235 | CALM1 | c.338_339delinsGG (p.Leu113Trp) c.230_231delinsGG (p.Leu77Trp) c.341_342delinsGG (p.Leu114Trp) c.210_211delinsGG (p.Arg71Gly) c.231_232delinsGG (p.Arg78Gly) n.2468_2469delinsGG n.390_391delinsGG n.264_265delinsGG c.166-26_166-25delinsGG (n.166-26_166-25delinsGG) | |
14 | g.90404431_90404432delinsGT | CA2579770449 | CALM1 | c.338_339delinsGT (p.Leu113Cys) c.230_231delinsGT (p.Leu77Cys) c.341_342delinsGT (p.Leu114Cys) c.210_211delinsGT (p.Arg71Trp) c.231_232delinsGT (p.Arg78Trp) n.2468_2469delinsGT n.390_391delinsGT n.264_265delinsGT c.166-26_166-25delinsGT (n.166-26_166-25delinsGT) | |
14 | g.90404431_90404434delinsTAGG | CA2154484124 | CALM1 | c.338_341delinsTAGG (p.Leu113=) c.230_233delinsTAGG (p.Leu77=) c.341_344delinsTAGG (p.Leu114=) c.210_213delinsTAGG (p.Leu70=) c.231_234delinsTAGG (p.Leu77=) n.2468_2471delinsTAGG n.390_393delinsTAGG n.264_267delinsTAGG c.166-26_166-23delinsTAGG (n.166-26_166-23delinsTAGG) | |
14 | g.90404432A>C | CA390690220 | CALM1 | c.339A>C (p.Leu113Phe) c.231A>C (p.Leu77Phe) c.342A>C (p.Leu114Phe) c.211A>C (p.Arg71=) c.232A>C (p.Arg78=) n.2469A>C n.391A>C n.265A>C c.166-25A>C (n.166-25A>C) | |
14 | g.90404432A>G | CA487760192 | CALM1 | c.339A>G (p.Leu113=) c.231A>G (p.Leu77=) c.342A>G (p.Leu114=) c.211A>G (p.Arg71Gly) c.232A>G (p.Arg78Gly) n.2469A>G n.391A>G n.265A>G c.166-25A>G (n.166-25A>G) | |
14 | g.90404432A>T | CA390690219 | CALM1 | c.339A>T (p.Leu113Phe) c.231A>T (p.Leu77Phe) c.342A>T (p.Leu114Phe) c.211A>T (p.Arg71Trp) c.232A>T (p.Arg78Trp) n.2469A>T n.391A>T n.265A>T c.166-25A>T (n.166-25A>T) | |
14 | g.90404434_90404436del | CA919475899 | CALM1 | c.341_343del (p.Gly114del) c.233_235del (p.Gly78del) c.344_346del (p.Gly115del) c.213_215del (p.Arg72del) c.234_236del (p.Arg79del) n.2471_2473del n.393_395del n.267_269del c.166-23_166-21del (n.166-23_166-21del) | dbSNP |
14 | g.90404433G>A | CA390690221 | CALM1 | c.340G>A (p.Gly114Arg) c.232G>A (p.Gly78Arg) c.343G>A (p.Gly115Arg) c.212G>A (p.Arg71Lys) c.233G>A (p.Arg78Lys) n.2470G>A n.392G>A n.266G>A c.166-24G>A (n.166-24G>A) | |
14 | g.90404433G>C | CA390690222 | CALM1 | c.340G>C (p.Gly114Arg) c.232G>C (p.Gly78Arg) c.343G>C (p.Gly115Arg) c.212G>C (p.Arg71Thr) c.233G>C (p.Arg78Thr) n.2470G>C n.392G>C n.266G>C c.166-24G>C (n.166-24G>C) | |
14 | g.90404433G>T | CA390690223 | CALM1 | c.340G>T (p.Gly114Ter) c.232G>T (p.Gly78Ter) c.343G>T (p.Gly115Ter) c.212G>T (p.Arg71Met) c.233G>T (p.Arg78Met) n.2470G>T n.392G>T n.266G>T c.166-24G>T (n.166-24G>T) | |
14 | g.90404433_90404434delinsAA | CA2579772671 | CALM1 | c.340_341delinsAA (p.Gly114Lys) c.232_233delinsAA (p.Gly78Lys) c.343_344delinsAA (p.Gly115Lys) c.212_213delinsAA (p.Arg71Lys) c.233_234delinsAA (p.Arg78Lys) n.2470_2471delinsAA n.392_393delinsAA n.266_267delinsAA c.166-24_166-23delinsAA (n.166-24_166-23delinsAA) | |
14 | g.90404433_90404434delinsAC | CA2579774286 | CALM1 | c.340_341delinsAC (p.Gly114Thr) c.232_233delinsAC (p.Gly78Thr) c.343_344delinsAC (p.Gly115Thr) c.212_213delinsAC (p.Arg71Asn) c.233_234delinsAC (p.Arg78Asn) n.2470_2471delinsAC n.392_393delinsAC n.266_267delinsAC c.166-24_166-23delinsAC (n.166-24_166-23delinsAC) | |
14 | g.90404433_90404434delinsAT | CA2579770394 | CALM1 | c.340_341delinsAT (p.Gly114Ile) c.232_233delinsAT (p.Gly78Ile) c.343_344delinsAT (p.Gly115Ile) c.212_213delinsAT (p.Arg71Asn) c.233_234delinsAT (p.Arg78Asn) n.2470_2471delinsAT n.392_393delinsAT n.266_267delinsAT c.166-24_166-23delinsAT (n.166-24_166-23delinsAT) | |
14 | g.90404433_90404434delinsCA | CA2579774036 | CALM1 | c.340_341delinsCA (p.Gly114Gln) c.232_233delinsCA (p.Gly78Gln) c.343_344delinsCA (p.Gly115Gln) c.212_213delinsCA (p.Arg71Thr) c.233_234delinsCA (p.Arg78Thr) n.2470_2471delinsCA n.392_393delinsCA n.266_267delinsCA c.166-24_166-23delinsCA (n.166-24_166-23delinsCA) | |
14 | g.90404433_90404434delinsCC | CA2579773549 | CALM1 | c.340_341delinsCC (p.Gly114Pro) c.232_233delinsCC (p.Gly78Pro) c.343_344delinsCC (p.Gly115Pro) c.212_213delinsCC (p.Arg71Thr) c.233_234delinsCC (p.Arg78Thr) n.2470_2471delinsCC n.392_393delinsCC n.266_267delinsCC c.166-24_166-23delinsCC (n.166-24_166-23delinsCC) | |
14 | g.90404433_90404434delinsCT | CA2579770466 | CALM1 | c.340_341delinsCT (p.Gly114Leu) c.232_233delinsCT (p.Gly78Leu) c.343_344delinsCT (p.Gly115Leu) c.212_213delinsCT (p.Arg71Thr) c.233_234delinsCT (p.Arg78Thr) n.2470_2471delinsCT n.392_393delinsCT n.266_267delinsCT c.166-24_166-23delinsCT (n.166-24_166-23delinsCT) | |
14 | g.90404433_90404434delinsTA | CA2579773062 | CALM1 | c.340_341delinsTA (p.Gly114Ter) c.232_233delinsTA (p.Gly78Ter) c.343_344delinsTA (p.Gly115Ter) c.212_213delinsTA (p.Arg71Ile) c.233_234delinsTA (p.Arg78Ile) n.2470_2471delinsTA n.392_393delinsTA n.266_267delinsTA c.166-24_166-23delinsTA (n.166-24_166-23delinsTA) | |
14 | g.90404433_90404434delinsTC | CA2579772712 | CALM1 | c.340_341delinsTC (p.Gly114Ser) c.232_233delinsTC (p.Gly78Ser) c.343_344delinsTC (p.Gly115Ser) c.212_213delinsTC (p.Arg71Ile) c.233_234delinsTC (p.Arg78Ile) n.2470_2471delinsTC n.392_393delinsTC n.266_267delinsTC c.166-24_166-23delinsTC (n.166-24_166-23delinsTC) | |
14 | g.90404433_90404434delinsTT | CA2579773609 | CALM1 | c.340_341delinsTT (p.Gly114Leu) c.232_233delinsTT (p.Gly78Leu) c.343_344delinsTT (p.Gly115Leu) c.212_213delinsTT (p.Arg71Ile) c.233_234delinsTT (p.Arg78Ile) n.2470_2471delinsTT n.392_393delinsTT n.266_267delinsTT c.166-24_166-23delinsTT (n.166-24_166-23delinsTT) | |
14 | g.90404433_90404435delinsAAG | CA2579774040 | CALM1 | c.340_342delinsAAG (p.Gly114Lys) c.232_234delinsAAG (p.Gly78Lys) c.343_345delinsAAG (p.Gly115Lys) c.212_214delinsAAG (p.Arg71_Arg72delinsLysGly) c.233_235delinsAAG (p.Arg78_Arg79delinsLysGly) n.2470_2472delinsAAG n.392_394delinsAAG n.266_268delinsAAG c.166-24_166-22delinsAAG (n.166-24_166-22delinsAAG) | |
14 | g.90404433_90404435delinsAAT | CA2579771288 | CALM1 | c.340_342delinsAAT (p.Gly114Asn) c.232_234delinsAAT (p.Gly78Asn) c.343_345delinsAAT (p.Gly115Asn) c.212_214delinsAAT (p.Arg71LysfsTer2) c.233_235delinsAAT (p.Arg78LysfsTer2) n.2470_2472delinsAAT n.392_394delinsAAT n.266_268delinsAAT c.166-24_166-22delinsAAT (n.166-24_166-22delinsAAT) | |
14 | g.90404433_90404435delinsACG | CA2579769923 | CALM1 | c.340_342delinsACG (p.Gly114Thr) c.232_234delinsACG (p.Gly78Thr) c.343_345delinsACG (p.Gly115Thr) c.212_214delinsACG (p.Arg71_Arg72delinsAsnGly) c.233_235delinsACG (p.Arg78_Arg79delinsAsnGly) n.2470_2472delinsACG n.392_394delinsACG n.266_268delinsACG c.166-24_166-22delinsACG (n.166-24_166-22delinsACG) | |
14 | g.90404433_90404435delinsAGG | CA2579773296 | CALM1 | c.340_342delinsAGG (p.Gly114Arg) c.232_234delinsAGG (p.Gly78Arg) c.343_345delinsAGG (p.Gly115Arg) c.212_214delinsAGG (p.Arg71_Arg72delinsLysGly) c.233_235delinsAGG (p.Arg78_Arg79delinsLysGly) n.2470_2472delinsAGG n.392_394delinsAGG n.266_268delinsAGG c.166-24_166-22delinsAGG (n.166-24_166-22delinsAGG) | |
14 | g.90404433_90404435delinsAGT | CA2579772818 | CALM1 | c.340_342delinsAGT (p.Gly114Ser) c.232_234delinsAGT (p.Gly78Ser) c.343_345delinsAGT (p.Gly115Ser) c.212_214delinsAGT (p.Arg71LysfsTer2) c.233_235delinsAGT (p.Arg78LysfsTer2) n.2470_2472delinsAGT n.392_394delinsAGT n.266_268delinsAGT c.166-24_166-22delinsAGT (n.166-24_166-22delinsAGT) | |
14 | g.90404433_90404435delinsATG | CA2579770592 | CALM1 | c.340_342delinsATG (p.Gly114Met) c.232_234delinsATG (p.Gly78Met) c.343_345delinsATG (p.Gly115Met) c.212_214delinsATG (p.Arg71_Arg72delinsAsnGly) c.233_235delinsATG (p.Arg78_Arg79delinsAsnGly) n.2470_2472delinsATG n.392_394delinsATG n.266_268delinsATG c.166-24_166-22delinsATG (n.166-24_166-22delinsATG) | |
14 | g.90404433_90404435delinsATT | CA2579773312 | CALM1 | c.340_342delinsATT (p.Gly114Ile) c.232_234delinsATT (p.Gly78Ile) c.343_345delinsATT (p.Gly115Ile) c.212_214delinsATT (p.Arg71AsnfsTer2) c.233_235delinsATT (p.Arg78AsnfsTer2) n.2470_2472delinsATT n.392_394delinsATT n.266_268delinsATT c.166-24_166-22delinsATT (n.166-24_166-22delinsATT) | |
14 | g.90404433_90404435delinsCAC | CA2579771161 | CALM1 | c.340_342delinsCAC (p.Gly114His) c.232_234delinsCAC (p.Gly78His) c.343_345delinsCAC (p.Gly115His) c.212_214delinsCAC (p.Arg71Thr) c.233_235delinsCAC (p.Arg78Thr) n.2470_2472delinsCAC n.392_394delinsCAC n.266_268delinsCAC c.166-24_166-22delinsCAC (n.166-24_166-22delinsCAC) | |
14 | g.90404433_90404435delinsCCG | CA2579771662 | CALM1 | c.340_342delinsCCG (p.Gly114Pro) c.232_234delinsCCG (p.Gly78Pro) c.343_345delinsCCG (p.Gly115Pro) c.212_214delinsCCG (p.Arg71_Arg72delinsThrGly) c.233_235delinsCCG (p.Arg78_Arg79delinsThrGly) n.2470_2472delinsCCG n.392_394delinsCCG n.266_268delinsCCG c.166-24_166-22delinsCCG (n.166-24_166-22delinsCCG) | |
14 | g.90404433_90404435delinsCCT | CA2579771121 | CALM1 | c.340_342delinsCCT (p.Gly114Pro) c.232_234delinsCCT (p.Gly78Pro) c.343_345delinsCCT (p.Gly115Pro) c.212_214delinsCCT (p.Arg71ThrfsTer2) c.233_235delinsCCT (p.Arg78ThrfsTer2) n.2470_2472delinsCCT n.392_394delinsCCT n.266_268delinsCCT c.166-24_166-22delinsCCT (n.166-24_166-22delinsCCT) | |
14 | g.90404433_90404435delinsCGG | CA2579769822 | CALM1 | c.340_342delinsCGG (p.Gly114Arg) c.232_234delinsCGG (p.Gly78Arg) c.343_345delinsCGG (p.Gly115Arg) c.212_214delinsCGG (p.Arg71_Arg72delinsThrGly) c.233_235delinsCGG (p.Arg78_Arg79delinsThrGly) n.2470_2472delinsCGG n.392_394delinsCGG n.266_268delinsCGG c.166-24_166-22delinsCGG (n.166-24_166-22delinsCGG) | |
14 | g.90404433_90404435delinsCGT | CA2579772039 | CALM1 | c.340_342delinsCGT (p.Gly114Arg) c.232_234delinsCGT (p.Gly78Arg) c.343_345delinsCGT (p.Gly115Arg) c.212_214delinsCGT (p.Arg71ThrfsTer2) c.233_235delinsCGT (p.Arg78ThrfsTer2) n.2470_2472delinsCGT n.392_394delinsCGT n.266_268delinsCGT c.166-24_166-22delinsCGT (n.166-24_166-22delinsCGT) | |
14 | g.90404433_90404435delinsCTG | CA2579769910 | CALM1 | c.340_342delinsCTG (p.Gly114Leu) c.232_234delinsCTG (p.Gly78Leu) c.343_345delinsCTG (p.Gly115Leu) c.212_214delinsCTG (p.Arg71_Arg72delinsThrGly) c.233_235delinsCTG (p.Arg78_Arg79delinsThrGly) n.2470_2472delinsCTG n.392_394delinsCTG n.266_268delinsCTG c.166-24_166-22delinsCTG (n.166-24_166-22delinsCTG) | |
14 | g.90404433_90404435delinsCTT | CA2579772700 | CALM1 | c.340_342delinsCTT (p.Gly114Leu) c.232_234delinsCTT (p.Gly78Leu) c.343_345delinsCTT (p.Gly115Leu) c.212_214delinsCTT (p.Arg71ThrfsTer2) c.233_235delinsCTT (p.Arg78ThrfsTer2) n.2470_2472delinsCTT n.392_394delinsCTT n.266_268delinsCTT c.166-24_166-22delinsCTT (n.166-24_166-22delinsCTT) | |
14 | g.90404433_90404435delinsTAG | CA2579770290 | CALM1 | c.340_342delinsTAG (p.Gly114Ter) c.232_234delinsTAG (p.Gly78Ter) c.343_345delinsTAG (p.Gly115Ter) c.212_214delinsTAG (p.Arg71_Arg72delinsIleGly) c.233_235delinsTAG (p.Arg78_Arg79delinsIleGly) n.2470_2472delinsTAG n.392_394delinsTAG n.266_268delinsTAG c.166-24_166-22delinsTAG (n.166-24_166-22delinsTAG) | |
14 | g.90404433_90404435delinsTAT | CA2579772544 | CALM1 | c.340_342delinsTAT (p.Gly114Tyr) c.232_234delinsTAT (p.Gly78Tyr) c.343_345delinsTAT (p.Gly115Tyr) c.212_214delinsTAT (p.Arg71IlefsTer2) c.233_235delinsTAT (p.Arg78IlefsTer2) n.2470_2472delinsTAT n.392_394delinsTAT n.266_268delinsTAT c.166-24_166-22delinsTAT (n.166-24_166-22delinsTAT) | |
14 | g.90404433_90404435delinsTCG | CA2579773197 | CALM1 | c.340_342delinsTCG (p.Gly114Ser) c.232_234delinsTCG (p.Gly78Ser) c.343_345delinsTCG (p.Gly115Ser) c.212_214delinsTCG (p.Arg71_Arg72delinsIleGly) c.233_235delinsTCG (p.Arg78_Arg79delinsIleGly) n.2470_2472delinsTCG n.392_394delinsTCG n.266_268delinsTCG c.166-24_166-22delinsTCG (n.166-24_166-22delinsTCG) | |
14 | g.90404433_90404435delinsTCT | CA2579773154 | CALM1 | c.340_342delinsTCT (p.Gly114Ser) c.232_234delinsTCT (p.Gly78Ser) c.343_345delinsTCT (p.Gly115Ser) c.212_214delinsTCT (p.Arg71IlefsTer2) c.233_235delinsTCT (p.Arg78IlefsTer2) n.2470_2472delinsTCT n.392_394delinsTCT n.266_268delinsTCT c.166-24_166-22delinsTCT (n.166-24_166-22delinsTCT) | |
14 | g.90404433_90404435delinsTGG | CA2579774135 | CALM1 | c.340_342delinsTGG (p.Gly114Trp) c.232_234delinsTGG (p.Gly78Trp) c.343_345delinsTGG (p.Gly115Trp) c.212_214delinsTGG (p.Arg71_Arg72delinsMetGly) c.233_235delinsTGG (p.Arg78_Arg79delinsMetGly) n.2470_2472delinsTGG n.392_394delinsTGG n.266_268delinsTGG c.166-24_166-22delinsTGG (n.166-24_166-22delinsTGG) | |
14 | g.90404433_90404435delinsTGT | CA2579772043 | CALM1 | c.340_342delinsTGT (p.Gly114Cys) c.232_234delinsTGT (p.Gly78Cys) c.343_345delinsTGT (p.Gly115Cys) c.212_214delinsTGT (p.Arg71MetfsTer2) c.233_235delinsTGT (p.Arg78MetfsTer2) n.2470_2472delinsTGT n.392_394delinsTGT n.266_268delinsTGT c.166-24_166-22delinsTGT (n.166-24_166-22delinsTGT) | |
14 | g.90404433_90404435delinsTTG | CA2579770928 | CALM1 | c.340_342delinsTTG (p.Gly114Leu) c.232_234delinsTTG (p.Gly78Leu) c.343_345delinsTTG (p.Gly115Leu) c.212_214delinsTTG (p.Arg71_Arg72delinsIleGly) c.233_235delinsTTG (p.Arg78_Arg79delinsIleGly) n.2470_2472delinsTTG n.392_394delinsTTG n.266_268delinsTTG c.166-24_166-22delinsTTG (n.166-24_166-22delinsTTG) | |
14 | g.90404433_90404435delinsTTT | CA2579772746 | CALM1 | c.340_342delinsTTT (p.Gly114Phe) c.232_234delinsTTT (p.Gly78Phe) c.343_345delinsTTT (p.Gly115Phe) c.212_214delinsTTT (p.Arg71IlefsTer2) c.233_235delinsTTT (p.Arg78IlefsTer2) n.2470_2472delinsTTT n.392_394delinsTTT n.266_268delinsTTT c.166-24_166-22delinsTTT (n.166-24_166-22delinsTTT) | |
14 | g.90404433_90404434insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT | CA7305799 | CALM1 | c.340_341insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (p.Gly114ValfsTer7) c.232_233insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (p.Gly78ValfsTer7) c.343_344insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (p.Gly115ValfsTer7) c.212_213insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (p.Arg71SerfsTer24) c.233_234insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (p.Arg78SerfsTer24) n.2470_2471insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT n.392_393insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT n.266_267insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT c.166-24_166-23insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (n.166-24_166-23insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT) | ExAC |
14 | g.90404434G>A | CA390690224 | CALM1 | c.341G>A (p.Gly114Glu) c.233G>A (p.Gly78Glu) c.344G>A (p.Gly115Glu) c.213G>A (p.Arg71=) c.234G>A (p.Arg78=) n.2471G>A n.393G>A n.267G>A c.166-23G>A (n.166-23G>A) | |
14 | g.90404434G>C | CA390690225 | CALM1 | c.341G>C (p.Gly114Ala) c.233G>C (p.Gly78Ala) c.344G>C (p.Gly115Ala) c.213G>C (p.Arg71Ser) c.234G>C (p.Arg78Ser) n.2471G>C n.393G>C n.267G>C c.166-23G>C (n.166-23G>C) | |
14 | g.90404434G>T | CA390690226 | CALM1 | c.341G>T (p.Gly114Val) c.233G>T (p.Gly78Val) c.344G>T (p.Gly115Val) c.213G>T (p.Arg71Ser) c.234G>T (p.Arg78Ser) n.2471G>T n.393G>T n.267G>T c.166-23G>T (n.166-23G>T) | |
14 | g.90404434_90404435delinsAG | CA2579771455 | CALM1 | c.341_342delinsAG (p.Gly114Glu) c.233_234delinsAG (p.Gly78Glu) c.344_345delinsAG (p.Gly115Glu) c.213_214delinsAG (p.Arg72Gly) c.234_235delinsAG (p.Arg79Gly) n.2471_2472delinsAG n.393_394delinsAG n.267_268delinsAG c.166-23_166-22delinsAG (n.166-23_166-22delinsAG) | |
14 | g.90404434_90404435delinsAT | CA2579771280 | CALM1 | c.341_342delinsAT (p.Gly114Asp) c.233_234delinsAT (p.Gly78Asp) c.344_345delinsAT (p.Gly115Asp) c.213_214delinsAT (p.Arg72Ter) c.234_235delinsAT (p.Arg79Ter) n.2471_2472delinsAT n.393_394delinsAT n.267_268delinsAT c.166-23_166-22delinsAT (n.166-23_166-22delinsAT) | |
14 | g.90404434_90404435delinsCG | CA2579770689 | CALM1 | c.341_342delinsCG (p.Gly114Ala) c.233_234delinsCG (p.Gly78Ala) c.344_345delinsCG (p.Gly115Ala) c.213_214delinsCG (p.Arg71_Arg72delinsSerGly) c.234_235delinsCG (p.Arg78_Arg79delinsSerGly) n.2471_2472delinsCG n.393_394delinsCG n.267_268delinsCG c.166-23_166-22delinsCG (n.166-23_166-22delinsCG) | |
14 | g.90404434_90404435delinsCT | CA2579770921 | CALM1 | c.341_342delinsCT (p.Gly114Ala) c.233_234delinsCT (p.Gly78Ala) c.344_345delinsCT (p.Gly115Ala) c.213_214delinsCT (p.Arg71SerfsTer2) c.234_235delinsCT (p.Arg78SerfsTer2) n.2471_2472delinsCT n.393_394delinsCT n.267_268delinsCT c.166-23_166-22delinsCT (n.166-23_166-22delinsCT) | |
14 | g.90404434_90404435delinsTC | CA2579773105 | CALM1 | c.341_342delinsTC (p.Gly114Val) c.233_234delinsTC (p.Gly78Val) c.344_345delinsTC (p.Gly115Val) c.213_214delinsTC (p.Arg71Ser) c.234_235delinsTC (p.Arg78Ser) n.2471_2472delinsTC n.393_394delinsTC n.267_268delinsTC c.166-23_166-22delinsTC (n.166-23_166-22delinsTC) | |
14 | g.90404434_90404435delinsTG | CA2579770320 | CALM1 | c.341_342delinsTG (p.Gly114Val) c.233_234delinsTG (p.Gly78Val) c.344_345delinsTG (p.Gly115Val) c.213_214delinsTG (p.Arg71_Arg72delinsSerGly) c.234_235delinsTG (p.Arg78_Arg79delinsSerGly) n.2471_2472delinsTG n.393_394delinsTG n.267_268delinsTG c.166-23_166-22delinsTG (n.166-23_166-22delinsTG) | |
14 | g.90404434_90404435delinsTT | CA2579773391 | CALM1 | c.341_342delinsTT (p.Gly114Val) c.233_234delinsTT (p.Gly78Val) c.344_345delinsTT (p.Gly115Val) c.213_214delinsTT (p.Arg71SerfsTer2) c.234_235delinsTT (p.Arg78SerfsTer2) n.2471_2472delinsTT n.393_394delinsTT n.267_268delinsTT c.166-23_166-22delinsTT (n.166-23_166-22delinsTT) | |
14 | g.90404435A>C | CA487760201 | CALM1 | c.342A>C (p.Gly114=) c.234A>C (p.Gly78=) c.345A>C (p.Gly115=) c.214A>C (p.Arg72=) c.235A>C (p.Arg79=) n.2472A>C n.394A>C n.268A>C c.166-22A>C (n.166-22A>C) | |
14 | g.90404435A>G | CA487760202 | CALM1 | c.342A>G (p.Gly114=) c.234A>G (p.Gly78=) c.345A>G (p.Gly115=) c.214A>G (p.Arg72Gly) c.235A>G (p.Arg79Gly) n.2472A>G n.394A>G n.268A>G c.166-22A>G (n.166-22A>G) | |
14 | g.90404435A>T | CA487760203 | CALM1 | c.342A>T (p.Gly114=) c.234A>T (p.Gly78=) c.345A>T (p.Gly115=) c.214A>T (p.Arg72Ter) c.235A>T (p.Arg79Ter) n.2472A>T n.394A>T n.268A>T c.166-22A>T (n.166-22A>T) | |
14 | g.90404436G>A | CA390690229 | CALM1 | c.343G>A (p.Glu115Lys) c.235G>A (p.Glu79Lys) c.346G>A (p.Glu116Lys) c.215G>A (p.Arg72Lys) c.236G>A (p.Arg79Lys) n.2473G>A n.395G>A n.269G>A c.166-21G>A (n.166-21G>A) | |
14 | g.90404436G>C | CA390690227 | CALM1 | c.343G>C (p.Glu115Gln) c.235G>C (p.Glu79Gln) c.346G>C (p.Glu116Gln) c.215G>C (p.Arg72Thr) c.236G>C (p.Arg79Thr) n.2473G>C n.395G>C n.269G>C c.166-21G>C (n.166-21G>C) | |
14 | g.90404436G>T | CA390690228 | CALM1 | c.343G>T (p.Glu115Ter) c.235G>T (p.Glu79Ter) c.346G>T (p.Glu116Ter) c.215G>T (p.Arg72Ile) c.236G>T (p.Arg79Ile) n.2473G>T n.395G>T n.269G>T c.166-21G>T (n.166-21G>T) | |
14 | g.90404436_90404437delinsAC | CA2579773578 | CALM1 | c.343_344delinsAC (p.Glu115Thr) c.235_236delinsAC (p.Glu79Thr) c.346_347delinsAC (p.Glu116Thr) c.215_216delinsAC (p.Arg72Asn) c.236_237delinsAC (p.Arg79Asn) n.2473_2474delinsAC n.395_396delinsAC n.269_270delinsAC c.166-21_166-20delinsAC (n.166-21_166-20delinsAC) | |
14 | g.90404436_90404437delinsAG | CA2579769899 | CALM1 | c.343_344delinsAG (p.Glu115Arg) c.235_236delinsAG (p.Glu79Arg) c.346_347delinsAG (p.Glu116Arg) c.215_216delinsAG (p.Arg72Lys) c.236_237delinsAG (p.Arg79Lys) n.2473_2474delinsAG n.395_396delinsAG n.269_270delinsAG c.166-21_166-20delinsAG (n.166-21_166-20delinsAG) | |
14 | g.90404436_90404437delinsAT | CA2579773533 | CALM1 | c.343_344delinsAT (p.Glu115Ile) c.235_236delinsAT (p.Glu79Ile) c.346_347delinsAT (p.Glu116Ile) c.215_216delinsAT (p.Arg72Asn) c.236_237delinsAT (p.Arg79Asn) n.2473_2474delinsAT n.395_396delinsAT n.269_270delinsAT c.166-21_166-20delinsAT (n.166-21_166-20delinsAT) | |
14 | g.90404436_90404437delinsCC | CA2579770480 | CALM1 | c.343_344delinsCC (p.Glu115Pro) c.235_236delinsCC (p.Glu79Pro) c.346_347delinsCC (p.Glu116Pro) c.215_216delinsCC (p.Arg72Thr) c.236_237delinsCC (p.Arg79Thr) n.2473_2474delinsCC n.395_396delinsCC n.269_270delinsCC c.166-21_166-20delinsCC (n.166-21_166-20delinsCC) | |
14 | g.90404436_90404437delinsCG | CA2579770537 | CALM1 | c.343_344delinsCG (p.Glu115Arg) c.235_236delinsCG (p.Glu79Arg) c.346_347delinsCG (p.Glu116Arg) c.215_216delinsCG (p.Arg72Thr) c.236_237delinsCG (p.Arg79Thr) n.2473_2474delinsCG n.395_396delinsCG n.269_270delinsCG c.166-21_166-20delinsCG (n.166-21_166-20delinsCG) | |
14 | g.90404436_90404437delinsCT | CA2579771350 | CALM1 | c.343_344delinsCT (p.Glu115Leu) c.235_236delinsCT (p.Glu79Leu) c.346_347delinsCT (p.Glu116Leu) c.215_216delinsCT (p.Arg72Thr) c.236_237delinsCT (p.Arg79Thr) n.2473_2474delinsCT n.395_396delinsCT n.269_270delinsCT c.166-21_166-20delinsCT (n.166-21_166-20delinsCT) | |
14 | g.90404436_90404437delinsTC | CA2579772542 | CALM1 | c.343_344delinsTC (p.Glu115Ser) c.235_236delinsTC (p.Glu79Ser) c.346_347delinsTC (p.Glu116Ser) c.215_216delinsTC (p.Arg72Ile) c.236_237delinsTC (p.Arg79Ile) n.2473_2474delinsTC n.395_396delinsTC n.269_270delinsTC c.166-21_166-20delinsTC (n.166-21_166-20delinsTC) | |
14 | g.90404436_90404437delinsTG | CA2579772281 | CALM1 | c.343_344delinsTG (p.Glu115Ter) c.235_236delinsTG (p.Glu79Ter) c.346_347delinsTG (p.Glu116Ter) c.215_216delinsTG (p.Arg72Met) c.236_237delinsTG (p.Arg79Met) n.2473_2474delinsTG n.395_396delinsTG n.269_270delinsTG c.166-21_166-20delinsTG (n.166-21_166-20delinsTG) | |
14 | g.90404436_90404437delinsTT | CA2579769781 | CALM1 | c.343_344delinsTT (p.Glu115Leu) c.235_236delinsTT (p.Glu79Leu) c.346_347delinsTT (p.Glu116Leu) c.215_216delinsTT (p.Arg72Ile) c.236_237delinsTT (p.Arg79Ile) n.2473_2474delinsTT n.395_396delinsTT n.269_270delinsTT c.166-21_166-20delinsTT (n.166-21_166-20delinsTT) | |
14 | g.90404436_90404438delinsAAG | CA2579772916 | CALM1 | c.343_345delinsAAG (p.Glu115Lys) c.235_237delinsAAG (p.Glu79Lys) c.346_348delinsAAG (p.Glu116Lys) c.215_217delinsAAG (p.Arg72_Lys73delinsLysGlu) c.236_238delinsAAG (p.Arg79_Lys80delinsLysGlu) n.2473_2475delinsAAG n.395_397delinsAAG n.269_271delinsAAG c.166-21_166-19delinsAAG (n.166-21_166-19delinsAAG) | |
14 | g.90404436_90404438delinsAAT | CA2579772635 | CALM1 | c.343_345delinsAAT (p.Glu115Asn) c.235_237delinsAAT (p.Glu79Asn) c.346_348delinsAAT (p.Glu116Asn) c.215_217delinsAAT (p.Arg72LysfsTer2) c.236_238delinsAAT (p.Arg79LysfsTer2) n.2473_2475delinsAAT n.395_397delinsAAT n.269_271delinsAAT c.166-21_166-19delinsAAT (n.166-21_166-19delinsAAT) | |
14 | g.90404436_90404438delinsACG | CA2579774261 | CALM1 | c.343_345delinsACG (p.Glu115Thr) c.235_237delinsACG (p.Glu79Thr) c.346_348delinsACG (p.Glu116Thr) c.215_217delinsACG (p.Arg72_Lys73delinsAsnGlu) c.236_238delinsACG (p.Arg79_Lys80delinsAsnGlu) n.2473_2475delinsACG n.395_397delinsACG n.269_271delinsACG c.166-21_166-19delinsACG (n.166-21_166-19delinsACG) | |
14 | g.90404436_90404438delinsACT | CA2579772466 | CALM1 | c.343_345delinsACT (p.Glu115Thr) c.235_237delinsACT (p.Glu79Thr) c.346_348delinsACT (p.Glu116Thr) c.215_217delinsACT (p.Arg72AsnfsTer2) c.236_238delinsACT (p.Arg79AsnfsTer2) n.2473_2475delinsACT n.395_397delinsACT n.269_271delinsACT c.166-21_166-19delinsACT (n.166-21_166-19delinsACT) | |
14 | g.90404436_90404438delinsAGG | CA2579771811 | CALM1 | c.343_345delinsAGG (p.Glu115Arg) c.235_237delinsAGG (p.Glu79Arg) c.346_348delinsAGG (p.Glu116Arg) c.215_217delinsAGG (p.Arg72_Lys73delinsLysGlu) c.236_238delinsAGG (p.Arg79_Lys80delinsLysGlu) n.2473_2475delinsAGG n.395_397delinsAGG n.269_271delinsAGG c.166-21_166-19delinsAGG (n.166-21_166-19delinsAGG) | |
14 | g.90404436_90404438delinsAGT | CA2579770099 | CALM1 | c.343_345delinsAGT (p.Glu115Ser) c.235_237delinsAGT (p.Glu79Ser) c.346_348delinsAGT (p.Glu116Ser) c.215_217delinsAGT (p.Arg72LysfsTer2) c.236_238delinsAGT (p.Arg79LysfsTer2) n.2473_2475delinsAGT n.395_397delinsAGT n.269_271delinsAGT c.166-21_166-19delinsAGT (n.166-21_166-19delinsAGT) | |
14 | g.90404436_90404438delinsATG | CA2579773223 | CALM1 | c.343_345delinsATG (p.Glu115Met) c.235_237delinsATG (p.Glu79Met) c.346_348delinsATG (p.Glu116Met) c.215_217delinsATG (p.Arg72_Lys73delinsAsnGlu) c.236_238delinsATG (p.Arg79_Lys80delinsAsnGlu) n.2473_2475delinsATG n.395_397delinsATG n.269_271delinsATG c.166-21_166-19delinsATG (n.166-21_166-19delinsATG) | |
14 | g.90404436_90404438delinsATT | CA2579773176 | CALM1 | c.343_345delinsATT (p.Glu115Ile) c.235_237delinsATT (p.Glu79Ile) c.346_348delinsATT (p.Glu116Ile) c.215_217delinsATT (p.Arg72AsnfsTer2) c.236_238delinsATT (p.Arg79AsnfsTer2) n.2473_2475delinsATT n.395_397delinsATT n.269_271delinsATT c.166-21_166-19delinsATT (n.166-21_166-19delinsATT) | |
14 | g.90404436_90404438delinsCAG | CA2579771993 | CALM1 | c.343_345delinsCAG (p.Glu115Gln) c.235_237delinsCAG (p.Glu79Gln) c.346_348delinsCAG (p.Glu116Gln) c.215_217delinsCAG (p.Arg72_Lys73delinsThrGlu) c.236_238delinsCAG (p.Arg79_Lys80delinsThrGlu) n.2473_2475delinsCAG n.395_397delinsCAG n.269_271delinsCAG c.166-21_166-19delinsCAG (n.166-21_166-19delinsCAG) | |
14 | g.90404436_90404438delinsCAT | CA2579773486 | CALM1 | c.343_345delinsCAT (p.Glu115His) c.235_237delinsCAT (p.Glu79His) c.346_348delinsCAT (p.Glu116His) c.215_217delinsCAT (p.Arg72ThrfsTer2) c.236_238delinsCAT (p.Arg79ThrfsTer2) n.2473_2475delinsCAT n.395_397delinsCAT n.269_271delinsCAT c.166-21_166-19delinsCAT (n.166-21_166-19delinsCAT) | |
14 | g.90404436_90404438delinsCCG | CA2579774191 | CALM1 | c.343_345delinsCCG (p.Glu115Pro) c.235_237delinsCCG (p.Glu79Pro) c.346_348delinsCCG (p.Glu116Pro) c.215_217delinsCCG (p.Arg72_Lys73delinsThrGlu) c.236_238delinsCCG (p.Arg79_Lys80delinsThrGlu) n.2473_2475delinsCCG n.395_397delinsCCG n.269_271delinsCCG c.166-21_166-19delinsCCG (n.166-21_166-19delinsCCG) | |
14 | g.90404436_90404438delinsCCT | CA2579770982 | CALM1 | c.343_345delinsCCT (p.Glu115Pro) c.235_237delinsCCT (p.Glu79Pro) c.346_348delinsCCT (p.Glu116Pro) c.215_217delinsCCT (p.Arg72ThrfsTer2) c.236_238delinsCCT (p.Arg79ThrfsTer2) n.2473_2475delinsCCT n.395_397delinsCCT n.269_271delinsCCT c.166-21_166-19delinsCCT (n.166-21_166-19delinsCCT) | |
14 | g.90404436_90404438delinsCGG | CA2579770289 | CALM1 | c.343_345delinsCGG (p.Glu115Arg) c.235_237delinsCGG (p.Glu79Arg) c.346_348delinsCGG (p.Glu116Arg) c.215_217delinsCGG (p.Arg72_Lys73delinsThrGlu) c.236_238delinsCGG (p.Arg79_Lys80delinsThrGlu) n.2473_2475delinsCGG n.395_397delinsCGG n.269_271delinsCGG c.166-21_166-19delinsCGG (n.166-21_166-19delinsCGG) | |
14 | g.90404436_90404438delinsCGT | CA2579771119 | CALM1 | c.343_345delinsCGT (p.Glu115Arg) c.235_237delinsCGT (p.Glu79Arg) c.346_348delinsCGT (p.Glu116Arg) c.215_217delinsCGT (p.Arg72ThrfsTer2) c.236_238delinsCGT (p.Arg79ThrfsTer2) n.2473_2475delinsCGT n.395_397delinsCGT n.269_271delinsCGT c.166-21_166-19delinsCGT (n.166-21_166-19delinsCGT) | |
14 | g.90404436_90404438delinsCTG | CA2579770781 | CALM1 | c.343_345delinsCTG (p.Glu115Leu) c.235_237delinsCTG (p.Glu79Leu) c.346_348delinsCTG (p.Glu116Leu) c.215_217delinsCTG (p.Arg72_Lys73delinsThrGlu) c.236_238delinsCTG (p.Arg79_Lys80delinsThrGlu) n.2473_2475delinsCTG n.395_397delinsCTG n.269_271delinsCTG c.166-21_166-19delinsCTG (n.166-21_166-19delinsCTG) | |
14 | g.90404436_90404438delinsCTT | CA2579769795 | CALM1 | c.343_345delinsCTT (p.Glu115Leu) c.235_237delinsCTT (p.Glu79Leu) c.346_348delinsCTT (p.Glu116Leu) c.215_217delinsCTT (p.Arg72ThrfsTer2) c.236_238delinsCTT (p.Arg79ThrfsTer2) n.2473_2475delinsCTT n.395_397delinsCTT n.269_271delinsCTT c.166-21_166-19delinsCTT (n.166-21_166-19delinsCTT) | |
14 | g.90404436_90404438delinsTAC | CA2579772099 | CALM1 | c.343_345delinsTAC (p.Glu115Tyr) c.235_237delinsTAC (p.Glu79Tyr) c.346_348delinsTAC (p.Glu116Tyr) c.215_217delinsTAC (p.Arg72_Lys73delinsIleGln) c.236_238delinsTAC (p.Arg79_Lys80delinsIleGln) n.2473_2475delinsTAC n.395_397delinsTAC n.269_271delinsTAC c.166-21_166-19delinsTAC (n.166-21_166-19delinsTAC) | |
14 | g.90404436_90404438delinsTAG | CA2579773297 | CALM1 | c.343_345delinsTAG (p.Glu115Ter) c.235_237delinsTAG (p.Glu79Ter) c.346_348delinsTAG (p.Glu116Ter) c.215_217delinsTAG (p.Arg72_Lys73delinsIleGlu) c.236_238delinsTAG (p.Arg79_Lys80delinsIleGlu) n.2473_2475delinsTAG n.395_397delinsTAG n.269_271delinsTAG c.166-21_166-19delinsTAG (n.166-21_166-19delinsTAG) | |
14 | g.90404436_90404438delinsTAT | CA2579771227 | CALM1 | c.343_345delinsTAT (p.Glu115Tyr) c.235_237delinsTAT (p.Glu79Tyr) c.346_348delinsTAT (p.Glu116Tyr) c.215_217delinsTAT (p.Arg72IlefsTer2) c.236_238delinsTAT (p.Arg79IlefsTer2) n.2473_2475delinsTAT n.395_397delinsTAT n.269_271delinsTAT c.166-21_166-19delinsTAT (n.166-21_166-19delinsTAT) | |
14 | g.90404436_90404438delinsTCG | CA2579773629 | CALM1 | c.343_345delinsTCG (p.Glu115Ser) c.235_237delinsTCG (p.Glu79Ser) c.346_348delinsTCG (p.Glu116Ser) c.215_217delinsTCG (p.Arg72_Lys73delinsIleGlu) c.236_238delinsTCG (p.Arg79_Lys80delinsIleGlu) n.2473_2475delinsTCG n.395_397delinsTCG n.269_271delinsTCG c.166-21_166-19delinsTCG (n.166-21_166-19delinsTCG) | |
14 | g.90404436_90404438delinsTCT | CA2579773219 | CALM1 | c.343_345delinsTCT (p.Glu115Ser) c.235_237delinsTCT (p.Glu79Ser) c.346_348delinsTCT (p.Glu116Ser) c.215_217delinsTCT (p.Arg72IlefsTer2) c.236_238delinsTCT (p.Arg79IlefsTer2) n.2473_2475delinsTCT n.395_397delinsTCT n.269_271delinsTCT c.166-21_166-19delinsTCT (n.166-21_166-19delinsTCT) | |
14 | g.90404436_90404438delinsTGG | CA2579771870 | CALM1 | c.343_345delinsTGG (p.Glu115Trp) c.235_237delinsTGG (p.Glu79Trp) c.346_348delinsTGG (p.Glu116Trp) c.215_217delinsTGG (p.Arg72_Lys73delinsMetGlu) c.236_238delinsTGG (p.Arg79_Lys80delinsMetGlu) n.2473_2475delinsTGG n.395_397delinsTGG n.269_271delinsTGG c.166-21_166-19delinsTGG (n.166-21_166-19delinsTGG) | |
14 | g.90404436_90404438delinsTGT | CA2579772483 | CALM1 | c.343_345delinsTGT (p.Glu115Cys) c.235_237delinsTGT (p.Glu79Cys) c.346_348delinsTGT (p.Glu116Cys) c.215_217delinsTGT (p.Arg72MetfsTer2) c.236_238delinsTGT (p.Arg79MetfsTer2) n.2473_2475delinsTGT n.395_397delinsTGT n.269_271delinsTGT c.166-21_166-19delinsTGT (n.166-21_166-19delinsTGT) | |
14 | g.90404436_90404438delinsTTG | CA2579769776 | CALM1 | c.343_345delinsTTG (p.Glu115Leu) c.235_237delinsTTG (p.Glu79Leu) c.346_348delinsTTG (p.Glu116Leu) c.215_217delinsTTG (p.Arg72_Lys73delinsIleGlu) c.236_238delinsTTG (p.Arg79_Lys80delinsIleGlu) n.2473_2475delinsTTG n.395_397delinsTTG n.269_271delinsTTG c.166-21_166-19delinsTTG (n.166-21_166-19delinsTTG) | |
14 | g.90404436_90404438delinsTTT | CA2579770977 | CALM1 | c.343_345delinsTTT (p.Glu115Phe) c.235_237delinsTTT (p.Glu79Phe) c.346_348delinsTTT (p.Glu116Phe) c.215_217delinsTTT (p.Arg72IlefsTer2) c.236_238delinsTTT (p.Arg79IlefsTer2) n.2473_2475delinsTTT n.395_397delinsTTT n.269_271delinsTTT c.166-21_166-19delinsTTT (n.166-21_166-19delinsTTT) | |
14 | g.90404437A>C | CA390690230 | CALM1 | c.344A>C (p.Glu115Ala) c.236A>C (p.Glu79Ala) c.347A>C (p.Glu116Ala) c.216A>C (p.Arg72Ser) c.237A>C (p.Arg79Ser) n.2474A>C n.396A>C n.270A>C c.166-20A>C (n.166-20A>C) | |
14 | g.90404437A>G | CA390690231 | CALM1 | c.344A>G (p.Glu115Gly) c.236A>G (p.Glu79Gly) c.347A>G (p.Glu116Gly) c.216A>G (p.Arg72=) c.237A>G (p.Arg79=) n.2474A>G n.396A>G n.270A>G c.166-20A>G (n.166-20A>G) | |
14 | g.90404437A>T | CA390690232 | CALM1 | c.344A>T (p.Glu115Val) c.236A>T (p.Glu79Val) c.347A>T (p.Glu116Val) c.216A>T (p.Arg72Ser) c.237A>T (p.Arg79Ser) n.2474A>T n.396A>T n.270A>T c.166-20A>T (n.166-20A>T) | |
14 | g.90404437_90404438delinsCC | CA2579772912 | CALM1 | c.344_345delinsCC (p.Glu115Ala) c.236_237delinsCC (p.Glu79Ala) c.347_348delinsCC (p.Glu116Ala) c.216_217delinsCC (p.Arg72_Lys73delinsSerGln) c.237_238delinsCC (p.Arg79_Lys80delinsSerGln) n.2474_2475delinsCC n.396_397delinsCC n.270_271delinsCC c.166-20_166-19delinsCC (n.166-20_166-19delinsCC) | |
14 | g.90404437_90404438delinsCG | CA2579771898 | CALM1 | c.344_345delinsCG (p.Glu115Ala) c.236_237delinsCG (p.Glu79Ala) c.347_348delinsCG (p.Glu116Ala) c.216_217delinsCG (p.Arg72_Lys73delinsSerGlu) c.237_238delinsCG (p.Arg79_Lys80delinsSerGlu) n.2474_2475delinsCG n.396_397delinsCG n.270_271delinsCG c.166-20_166-19delinsCG (n.166-20_166-19delinsCG) | |
14 | g.90404437_90404438delinsCT | CA2579770178 | CALM1 | c.344_345delinsCT (p.Glu115Ala) c.236_237delinsCT (p.Glu79Ala) c.347_348delinsCT (p.Glu116Ala) c.216_217delinsCT (p.Arg72SerfsTer2) c.237_238delinsCT (p.Arg79SerfsTer2) n.2474_2475delinsCT n.396_397delinsCT n.270_271delinsCT c.166-20_166-19delinsCT (n.166-20_166-19delinsCT) | |
14 | g.90404437_90404438delinsGC | CA2579769757 | CALM1 | c.344_345delinsGC (p.Glu115Gly) c.236_237delinsGC (p.Glu79Gly) c.347_348delinsGC (p.Glu116Gly) c.216_217delinsGC (p.Lys73Gln) c.237_238delinsGC (p.Lys80Gln) n.2474_2475delinsGC n.396_397delinsGC n.270_271delinsGC c.166-20_166-19delinsGC (n.166-20_166-19delinsGC) | |
14 | g.90404437_90404438delinsGG | CA2579773084 | CALM1 | c.344_345delinsGG (p.Glu115Gly) c.236_237delinsGG (p.Glu79Gly) c.347_348delinsGG (p.Glu116Gly) c.216_217delinsGG (p.Lys73Glu) c.237_238delinsGG (p.Lys80Glu) n.2474_2475delinsGG n.396_397delinsGG n.270_271delinsGG c.166-20_166-19delinsGG (n.166-20_166-19delinsGG) | |
14 | g.90404437_90404438delinsGT | CA2579770634 | CALM1 | c.344_345delinsGT (p.Glu115Gly) c.236_237delinsGT (p.Glu79Gly) c.347_348delinsGT (p.Glu116Gly) c.216_217delinsGT (p.Arg73Ter) c.237_238delinsGT (p.Arg80Ter) n.2474_2475delinsGT n.396_397delinsGT n.270_271delinsGT c.166-20_166-19delinsGT (n.166-20_166-19delinsGT) | |
14 | g.90404437_90404438delinsTG | CA2579774276 | CALM1 | c.344_345delinsTG (p.Glu115Val) c.236_237delinsTG (p.Glu79Val) c.347_348delinsTG (p.Glu116Val) c.216_217delinsTG (p.Arg72_Lys73delinsSerGlu) c.237_238delinsTG (p.Arg79_Lys80delinsSerGlu) n.2474_2475delinsTG n.396_397delinsTG n.270_271delinsTG c.166-20_166-19delinsTG (n.166-20_166-19delinsTG) | |
14 | g.90404437_90404438delinsTT | CA2579770833 | CALM1 | c.344_345delinsTT (p.Glu115Val) c.236_237delinsTT (p.Glu79Val) c.347_348delinsTT (p.Glu116Val) c.216_217delinsTT (p.Arg72SerfsTer2) c.237_238delinsTT (p.Arg79SerfsTer2) n.2474_2475delinsTT n.396_397delinsTT n.270_271delinsTT c.166-20_166-19delinsTT (n.166-20_166-19delinsTT) | |
14 | g.90404438A>C | CA390690233 | CALM1 | c.345A>C (p.Glu115Asp) c.237A>C (p.Glu79Asp) c.348A>C (p.Glu116Asp) c.217A>C (p.Lys73Gln) c.238A>C (p.Lys80Gln) n.2475A>C n.397A>C n.271A>C c.166-19A>C (n.166-19A>C) | |
14 | g.90404438A>G | CA487760214 | CALM1 | c.345A>G (p.Glu115=) c.237A>G (p.Glu79=) c.348A>G (p.Glu116=) c.217A>G (p.Lys73Glu) c.238A>G (p.Lys80Glu) n.2475A>G n.397A>G n.271A>G c.166-19A>G (n.166-19A>G) | |
14 | g.90404438A>T | CA390690234 | CALM1 | c.345A>T (p.Glu115Asp) c.237A>T (p.Glu79Asp) c.348A>T (p.Glu116Asp) c.217A>T (p.Lys73Ter) c.238A>T (p.Lys80Ter) n.2475A>T n.397A>T n.271A>T c.166-19A>T (n.166-19A>T) | |
14 | g.90404439A>C | CA390690235 | CALM1 | c.346A>C (p.Lys116Gln) c.238A>C (p.Lys80Gln) c.349A>C (p.Lys117Gln) c.218A>C (p.Lys73Thr) c.239A>C (p.Lys80Thr) n.2476A>C n.398A>C n.272A>C c.166-18A>C (n.166-18A>C) | |
14 | g.90404439A>G | CA390690237 | CALM1 | c.346A>G (p.Lys116Glu) c.238A>G (p.Lys80Glu) c.349A>G (p.Lys117Glu) c.218A>G (p.Lys73Arg) c.239A>G (p.Lys80Arg) n.2476A>G n.398A>G n.272A>G c.166-18A>G (n.166-18A>G) | |
14 | g.90404439A>T | CA390690236 | CALM1 | c.346A>T (p.Lys116Ter) c.238A>T (p.Lys80Ter) c.349A>T (p.Lys117Ter) c.218A>T (p.Lys73Ile) c.239A>T (p.Lys80Ile) n.2476A>T n.398A>T n.272A>T c.166-18A>T (n.166-18A>T) | |
14 | g.90404439_90404440delinsCC | CA2579772266 | CALM1 | c.346_347delinsCC (p.Lys116Pro) c.238_239delinsCC (p.Lys80Pro) c.349_350delinsCC (p.Lys117Pro) c.218_219delinsCC (p.Lys73Thr) c.239_240delinsCC (p.Lys80Thr) n.2476_2477delinsCC n.398_399delinsCC n.272_273delinsCC c.166-18_166-17delinsCC (n.166-18_166-17delinsCC) | |
14 | g.90404439_90404440delinsCG | CA2579771038 | CALM1 | c.346_347delinsCG (p.Lys116Arg) c.238_239delinsCG (p.Lys80Arg) c.349_350delinsCG (p.Lys117Arg) c.218_219delinsCG (p.Lys73Thr) c.239_240delinsCG (p.Lys80Thr) n.2476_2477delinsCG n.398_399delinsCG n.272_273delinsCG c.166-18_166-17delinsCG (n.166-18_166-17delinsCG) | |
14 | g.90404439_90404440delinsCT | CA2579772553 | CALM1 | c.346_347delinsCT (p.Lys116Leu) c.238_239delinsCT (p.Lys80Leu) c.349_350delinsCT (p.Lys117Leu) c.218_219delinsCT (p.Lys73Thr) c.239_240delinsCT (p.Lys80Thr) n.2476_2477delinsCT n.398_399delinsCT n.272_273delinsCT c.166-18_166-17delinsCT (n.166-18_166-17delinsCT) | |
14 | g.90404439_90404440delinsGC | CA2579771138 | CALM1 | c.346_347delinsGC (p.Lys116Ala) c.238_239delinsGC (p.Lys80Ala) c.349_350delinsGC (p.Lys117Ala) c.218_219delinsGC (p.Lys73Ser) c.239_240delinsGC (p.Lys80Ser) n.2476_2477delinsGC n.398_399delinsGC n.272_273delinsGC c.166-18_166-17delinsGC (n.166-18_166-17delinsGC) | |
14 | g.90404439_90404440delinsGG | CA2579769760 | CALM1 | c.346_347delinsGG (p.Lys116Gly) c.238_239delinsGG (p.Lys80Gly) c.349_350delinsGG (p.Lys117Gly) c.218_219delinsGG (p.Lys73Arg) c.239_240delinsGG (p.Lys80Arg) n.2476_2477delinsGG n.398_399delinsGG n.272_273delinsGG c.166-18_166-17delinsGG (n.166-18_166-17delinsGG) | |
14 | g.90404439_90404440delinsGT | CA2579771005 | CALM1 | c.346_347delinsGT (p.Lys116Val) c.238_239delinsGT (p.Lys80Val) c.349_350delinsGT (p.Lys117Val) c.218_219delinsGT (p.Lys73Ser) c.239_240delinsGT (p.Lys80Ser) n.2476_2477delinsGT n.398_399delinsGT n.272_273delinsGT c.166-18_166-17delinsGT (n.166-18_166-17delinsGT) | |
14 | g.90404439_90404440delinsTC | CA2579771260 | CALM1 | c.346_347delinsTC (p.Lys116Ser) c.238_239delinsTC (p.Lys80Ser) c.349_350delinsTC (p.Lys117Ser) c.218_219delinsTC (p.Lys73Ile) c.239_240delinsTC (p.Lys80Ile) n.2476_2477delinsTC n.398_399delinsTC n.272_273delinsTC c.166-18_166-17delinsTC (n.166-18_166-17delinsTC) | |
14 | g.90404439_90404440delinsTG | CA2579770700 | CALM1 | c.346_347delinsTG (p.Lys116Ter) c.238_239delinsTG (p.Lys80Ter) c.349_350delinsTG (p.Lys117Ter) c.218_219delinsTG (p.Lys73Met) c.239_240delinsTG (p.Lys80Met) n.2476_2477delinsTG n.398_399delinsTG n.272_273delinsTG c.166-18_166-17delinsTG (n.166-18_166-17delinsTG) | |
14 | g.90404439_90404440delinsTT | CA2579772232 | CALM1 | c.346_347delinsTT (p.Lys116Leu) c.238_239delinsTT (p.Lys80Leu) c.349_350delinsTT (p.Lys117Leu) c.218_219delinsTT (p.Lys73Ile) c.239_240delinsTT (p.Lys80Ile) n.2476_2477delinsTT n.398_399delinsTT n.272_273delinsTT c.166-18_166-17delinsTT (n.166-18_166-17delinsTT) | |
14 | g.90404439_90404441delinsCAG | CA2579774272 | CALM1 | c.346_348delinsCAG (p.Lys116Gln) c.238_240delinsCAG (p.Lys80Gln) c.349_351delinsCAG (p.Lys117Gln) c.218_220delinsCAG (p.Lys73_Thr74delinsThrAla) c.239_241delinsCAG (p.Lys80_Thr81delinsThrAla) n.2476_2478delinsCAG n.398_400delinsCAG n.272_274delinsCAG c.166-18_166-16delinsCAG (n.166-18_166-16delinsCAG) | |
14 | g.90404439_90404441delinsCAT | CA2579773847 | CALM1 | c.346_348delinsCAT (p.Lys116His) c.238_240delinsCAT (p.Lys80His) c.349_351delinsCAT (p.Lys117His) c.218_220delinsCAT (p.Lys73_Thr74delinsThrSer) c.239_241delinsCAT (p.Lys80_Thr81delinsThrSer) n.2476_2478delinsCAT n.398_400delinsCAT n.272_274delinsCAT c.166-18_166-16delinsCAT (n.166-18_166-16delinsCAT) | |
14 | g.90404439_90404441delinsCCG | CA2579771937 | CALM1 | c.346_348delinsCCG (p.Lys116Pro) c.238_240delinsCCG (p.Lys80Pro) c.349_351delinsCCG (p.Lys117Pro) c.218_220delinsCCG (p.Lys73_Thr74delinsThrAla) c.239_241delinsCCG (p.Lys80_Thr81delinsThrAla) n.2476_2478delinsCCG n.398_400delinsCCG n.272_274delinsCCG c.166-18_166-16delinsCCG (n.166-18_166-16delinsCCG) | |
14 | g.90404439_90404441delinsCCT | CA2579771006 | CALM1 | c.346_348delinsCCT (p.Lys116Pro) c.238_240delinsCCT (p.Lys80Pro) c.349_351delinsCCT (p.Lys117Pro) c.218_220delinsCCT (p.Lys73_Thr74delinsThrSer) c.239_241delinsCCT (p.Lys80_Thr81delinsThrSer) n.2476_2478delinsCCT n.398_400delinsCCT n.272_274delinsCCT c.166-18_166-16delinsCCT (n.166-18_166-16delinsCCT) | |
14 | g.90404439_90404441delinsCGG | CA2579772448 | CALM1 | c.346_348delinsCGG (p.Lys116Arg) c.238_240delinsCGG (p.Lys80Arg) c.349_351delinsCGG (p.Lys117Arg) c.218_220delinsCGG (p.Lys73_Thr74delinsThrAla) c.239_241delinsCGG (p.Lys80_Thr81delinsThrAla) n.2476_2478delinsCGG n.398_400delinsCGG n.272_274delinsCGG c.166-18_166-16delinsCGG (n.166-18_166-16delinsCGG) | |
14 | g.90404439_90404441delinsCGT | CA2579774291 | CALM1 | c.346_348delinsCGT (p.Lys116Arg) c.238_240delinsCGT (p.Lys80Arg) c.349_351delinsCGT (p.Lys117Arg) c.218_220delinsCGT (p.Lys73_Thr74delinsThrSer) c.239_241delinsCGT (p.Lys80_Thr81delinsThrSer) n.2476_2478delinsCGT n.398_400delinsCGT n.272_274delinsCGT c.166-18_166-16delinsCGT (n.166-18_166-16delinsCGT) | |
14 | g.90404439_90404441delinsCTG | CA2579770946 | CALM1 | c.346_348delinsCTG (p.Lys116Leu) c.238_240delinsCTG (p.Lys80Leu) c.349_351delinsCTG (p.Lys117Leu) c.218_220delinsCTG (p.Lys73_Thr74delinsThrAla) c.239_241delinsCTG (p.Lys80_Thr81delinsThrAla) n.2476_2478delinsCTG n.398_400delinsCTG n.272_274delinsCTG c.166-18_166-16delinsCTG (n.166-18_166-16delinsCTG) | |
14 | g.90404439_90404441delinsCTT | CA2579770750 | CALM1 | c.346_348delinsCTT (p.Lys116Leu) c.238_240delinsCTT (p.Lys80Leu) c.349_351delinsCTT (p.Lys117Leu) c.218_220delinsCTT (p.Lys73_Thr74delinsThrSer) c.239_241delinsCTT (p.Lys80_Thr81delinsThrSer) n.2476_2478delinsCTT n.398_400delinsCTT n.272_274delinsCTT c.166-18_166-16delinsCTT (n.166-18_166-16delinsCTT) | |
14 | g.90404439_90404441delinsGAC | CA2579770437 | CALM1 | c.346_348delinsGAC (p.Lys116Asp) c.238_240delinsGAC (p.Lys80Asp) c.349_351delinsGAC (p.Lys117Asp) c.218_220delinsGAC (p.Lys73_Thr74delinsArgPro) c.239_241delinsGAC (p.Lys80_Thr81delinsArgPro) n.2476_2478delinsGAC n.398_400delinsGAC n.272_274delinsGAC c.166-18_166-16delinsGAC (n.166-18_166-16delinsGAC) | |
14 | g.90404439_90404441delinsGAG | CA2579773370 | CALM1 | c.346_348delinsGAG (p.Lys116Glu) c.238_240delinsGAG (p.Lys80Glu) c.349_351delinsGAG (p.Lys117Glu) c.218_220delinsGAG (p.Lys73_Thr74delinsArgAla) c.239_241delinsGAG (p.Lys80_Thr81delinsArgAla) n.2476_2478delinsGAG n.398_400delinsGAG n.272_274delinsGAG c.166-18_166-16delinsGAG (n.166-18_166-16delinsGAG) | |
14 | g.90404439_90404441delinsGAT | CA2579769938 | CALM1 | c.346_348delinsGAT (p.Lys116Asp) c.238_240delinsGAT (p.Lys80Asp) c.349_351delinsGAT (p.Lys117Asp) c.218_220delinsGAT (p.Lys73_Thr74delinsArgSer) c.239_241delinsGAT (p.Lys80_Thr81delinsArgSer) n.2476_2478delinsGAT n.398_400delinsGAT n.272_274delinsGAT c.166-18_166-16delinsGAT (n.166-18_166-16delinsGAT) | |
14 | g.90404439_90404441delinsGCG | CA2579773023 | CALM1 | c.346_348delinsGCG (p.Lys116Ala) c.238_240delinsGCG (p.Lys80Ala) c.349_351delinsGCG (p.Lys117Ala) c.218_220delinsGCG (p.Lys73_Thr74delinsSerAla) c.239_241delinsGCG (p.Lys80_Thr81delinsSerAla) n.2476_2478delinsGCG n.398_400delinsGCG n.272_274delinsGCG c.166-18_166-16delinsGCG (n.166-18_166-16delinsGCG) | |
14 | g.90404439_90404441delinsGCT | CA2579772097 | CALM1 | c.346_348delinsGCT (p.Lys116Ala) c.238_240delinsGCT (p.Lys80Ala) c.349_351delinsGCT (p.Lys117Ala) c.218_220delinsGCT (p.Lys73_Thr74delinsSerSer) c.239_241delinsGCT (p.Lys80_Thr81delinsSerSer) n.2476_2478delinsGCT n.398_400delinsGCT n.272_274delinsGCT c.166-18_166-16delinsGCT (n.166-18_166-16delinsGCT) | |
14 | g.90404439_90404441delinsGGG | CA2579773388 | CALM1 | c.346_348delinsGGG (p.Lys116Gly) c.238_240delinsGGG (p.Lys80Gly) c.349_351delinsGGG (p.Lys117Gly) c.218_220delinsGGG (p.Lys73_Thr74delinsArgAla) c.239_241delinsGGG (p.Lys80_Thr81delinsArgAla) n.2476_2478delinsGGG n.398_400delinsGGG n.272_274delinsGGG c.166-18_166-16delinsGGG (n.166-18_166-16delinsGGG) | |
14 | g.90404439_90404441delinsGGT | CA2579772717 | CALM1 | c.346_348delinsGGT (p.Lys116Gly) c.238_240delinsGGT (p.Lys80Gly) c.349_351delinsGGT (p.Lys117Gly) c.218_220delinsGGT (p.Lys73_Thr74delinsArgSer) c.239_241delinsGGT (p.Lys80_Thr81delinsArgSer) n.2476_2478delinsGGT n.398_400delinsGGT n.272_274delinsGGT c.166-18_166-16delinsGGT (n.166-18_166-16delinsGGT) | |
14 | g.90404439_90404441delinsGTC | CA2579773848 | CALM1 | c.346_348delinsGTC (p.Lys116Val) c.238_240delinsGTC (p.Lys80Val) c.349_351delinsGTC (p.Lys117Val) c.218_220delinsGTC (p.Lys73_Thr74delinsSerPro) c.239_241delinsGTC (p.Lys80_Thr81delinsSerPro) n.2476_2478delinsGTC n.398_400delinsGTC n.272_274delinsGTC c.166-18_166-16delinsGTC (n.166-18_166-16delinsGTC) | |
14 | g.90404439_90404441delinsGTG | CA2579772954 | CALM1 | c.346_348delinsGTG (p.Lys116Val) c.238_240delinsGTG (p.Lys80Val) c.349_351delinsGTG (p.Lys117Val) c.218_220delinsGTG (p.Lys73_Thr74delinsSerAla) c.239_241delinsGTG (p.Lys80_Thr81delinsSerAla) n.2476_2478delinsGTG n.398_400delinsGTG n.272_274delinsGTG c.166-18_166-16delinsGTG (n.166-18_166-16delinsGTG) | |
14 | g.90404439_90404441delinsGTT | CA2579771949 | CALM1 | c.346_348delinsGTT (p.Lys116Val) c.238_240delinsGTT (p.Lys80Val) c.349_351delinsGTT (p.Lys117Val) c.218_220delinsGTT (p.Lys73_Thr74delinsSerSer) c.239_241delinsGTT (p.Lys80_Thr81delinsSerSer) n.2476_2478delinsGTT n.398_400delinsGTT n.272_274delinsGTT c.166-18_166-16delinsGTT (n.166-18_166-16delinsGTT) | |
14 | g.90404439_90404441delinsTAG | CA2579772696 | CALM1 | c.346_348delinsTAG (p.Lys116Ter) c.238_240delinsTAG (p.Lys80Ter) c.349_351delinsTAG (p.Lys117Ter) c.218_220delinsTAG (p.Lys73_Thr74delinsIleAla) c.239_241delinsTAG (p.Lys80_Thr81delinsIleAla) n.2476_2478delinsTAG n.398_400delinsTAG n.272_274delinsTAG c.166-18_166-16delinsTAG (n.166-18_166-16delinsTAG) | |
14 | g.90404439_90404441delinsTAT | CA2579772518 | CALM1 | c.346_348delinsTAT (p.Lys116Tyr) c.238_240delinsTAT (p.Lys80Tyr) c.349_351delinsTAT (p.Lys117Tyr) c.218_220delinsTAT (p.Lys73_Thr74delinsIleSer) c.239_241delinsTAT (p.Lys80_Thr81delinsIleSer) n.2476_2478delinsTAT n.398_400delinsTAT n.272_274delinsTAT c.166-18_166-16delinsTAT (n.166-18_166-16delinsTAT) | |
14 | g.90404439_90404441delinsTCG | CA2579773896 | CALM1 | c.346_348delinsTCG (p.Lys116Ser) c.238_240delinsTCG (p.Lys80Ser) c.349_351delinsTCG (p.Lys117Ser) c.218_220delinsTCG (p.Lys73_Thr74delinsIleAla) c.239_241delinsTCG (p.Lys80_Thr81delinsIleAla) n.2476_2478delinsTCG n.398_400delinsTCG n.272_274delinsTCG c.166-18_166-16delinsTCG (n.166-18_166-16delinsTCG) | |
14 | g.90404439_90404441delinsTCT | CA2579770986 | CALM1 | c.346_348delinsTCT (p.Lys116Ser) c.238_240delinsTCT (p.Lys80Ser) c.349_351delinsTCT (p.Lys117Ser) c.218_220delinsTCT (p.Lys73_Thr74delinsIleSer) c.239_241delinsTCT (p.Lys80_Thr81delinsIleSer) n.2476_2478delinsTCT n.398_400delinsTCT n.272_274delinsTCT c.166-18_166-16delinsTCT (n.166-18_166-16delinsTCT) | |
14 | g.90404439_90404441delinsTGG | CA2579771815 | CALM1 | c.346_348delinsTGG (p.Lys116Trp) c.238_240delinsTGG (p.Lys80Trp) c.349_351delinsTGG (p.Lys117Trp) c.218_220delinsTGG (p.Lys73_Thr74delinsMetAla) c.239_241delinsTGG (p.Lys80_Thr81delinsMetAla) n.2476_2478delinsTGG n.398_400delinsTGG n.272_274delinsTGG c.166-18_166-16delinsTGG (n.166-18_166-16delinsTGG) | |
14 | g.90404439_90404441delinsTTG | CA2579771408 | CALM1 | c.346_348delinsTTG (p.Lys116Leu) c.238_240delinsTTG (p.Lys80Leu) c.349_351delinsTTG (p.Lys117Leu) c.218_220delinsTTG (p.Lys73_Thr74delinsIleAla) c.239_241delinsTTG (p.Lys80_Thr81delinsIleAla) n.2476_2478delinsTTG n.398_400delinsTTG n.272_274delinsTTG c.166-18_166-16delinsTTG (n.166-18_166-16delinsTTG) | |
14 | g.90404439_90404441delinsTTT | CA2579772732 | CALM1 | c.346_348delinsTTT (p.Lys116Phe) c.238_240delinsTTT (p.Lys80Phe) c.349_351delinsTTT (p.Lys117Phe) c.218_220delinsTTT (p.Lys73_Thr74delinsIleSer) c.239_241delinsTTT (p.Lys80_Thr81delinsIleSer) n.2476_2478delinsTTT n.398_400delinsTTT n.272_274delinsTTT c.166-18_166-16delinsTTT (n.166-18_166-16delinsTTT) | |
14 | g.90404440A>C | CA390690238 | CALM1 | c.347A>C (p.Lys116Thr) c.239A>C (p.Lys80Thr) c.350A>C (p.Lys117Thr) c.219A>C (p.Lys73Asn) c.240A>C (p.Lys80Asn) n.2477A>C n.399A>C n.273A>C c.166-17A>C (n.166-17A>C) | |
14 | g.90404440A>G | CA390690239 | CALM1 | c.347A>G (p.Lys116Arg) c.239A>G (p.Lys80Arg) c.350A>G (p.Lys117Arg) c.219A>G (p.Lys73=) c.240A>G (p.Lys80=) n.2477A>G n.399A>G n.273A>G c.166-17A>G (n.166-17A>G) | |
14 | g.90404440A>T | CA390690240 | CALM1 | c.347A>T (p.Lys116Ile) c.239A>T (p.Lys80Ile) c.350A>T (p.Lys117Ile) c.219A>T (p.Lys73Asn) c.240A>T (p.Lys80Asn) n.2477A>T n.399A>T n.273A>T c.166-17A>T (n.166-17A>T) | |
14 | g.90404440_90404441delinsCC | CA2579773346 | CALM1 | c.347_348delinsCC (p.Lys116Thr) c.239_240delinsCC (p.Lys80Thr) c.350_351delinsCC (p.Lys117Thr) c.219_220delinsCC (p.Lys73_Thr74delinsAsnPro) c.240_241delinsCC (p.Lys80_Thr81delinsAsnPro) n.2477_2478delinsCC n.399_400delinsCC n.273_274delinsCC c.166-17_166-16delinsCC (n.166-17_166-16delinsCC) | |
14 | g.90404440_90404441delinsCG | CA2579771236 | CALM1 | c.347_348delinsCG (p.Lys116Thr) c.239_240delinsCG (p.Lys80Thr) c.350_351delinsCG (p.Lys117Thr) c.219_220delinsCG (p.Lys73_Thr74delinsAsnAla) c.240_241delinsCG (p.Lys80_Thr81delinsAsnAla) n.2477_2478delinsCG n.399_400delinsCG n.273_274delinsCG c.166-17_166-16delinsCG (n.166-17_166-16delinsCG) | |
14 | g.90404440_90404441delinsCT | CA2579769974 | CALM1 | c.347_348delinsCT (p.Lys116Thr) c.239_240delinsCT (p.Lys80Thr) c.350_351delinsCT (p.Lys117Thr) c.219_220delinsCT (p.Lys73_Thr74delinsAsnSer) c.240_241delinsCT (p.Lys80_Thr81delinsAsnSer) n.2477_2478delinsCT n.399_400delinsCT n.273_274delinsCT c.166-17_166-16delinsCT (n.166-17_166-16delinsCT) | |
14 | g.90404440_90404441delinsGG | CA2579770232 | CALM1 | c.347_348delinsGG (p.Lys116Arg) c.239_240delinsGG (p.Lys80Arg) c.350_351delinsGG (p.Lys117Arg) c.219_220delinsGG (p.Thr74Ala) c.240_241delinsGG (p.Thr81Ala) n.2477_2478delinsGG n.399_400delinsGG n.273_274delinsGG c.166-17_166-16delinsGG (n.166-17_166-16delinsGG) | |
14 | g.90404440_90404441delinsGT | CA2579774060 | CALM1 | c.347_348delinsGT (p.Lys116Ser) c.239_240delinsGT (p.Lys80Ser) c.350_351delinsGT (p.Lys117Ser) c.219_220delinsGT (p.Thr74Ser) c.240_241delinsGT (p.Thr81Ser) n.2477_2478delinsGT n.399_400delinsGT n.273_274delinsGT c.166-17_166-16delinsGT (n.166-17_166-16delinsGT) | |
14 | g.90404440_90404441delinsTC | CA2579772885 | CALM1 | c.347_348delinsTC (p.Lys116Ile) c.239_240delinsTC (p.Lys80Ile) c.350_351delinsTC (p.Lys117Ile) c.219_220delinsTC (p.Lys73_Thr74delinsAsnPro) c.240_241delinsTC (p.Lys80_Thr81delinsAsnPro) n.2477_2478delinsTC n.399_400delinsTC n.273_274delinsTC c.166-17_166-16delinsTC (n.166-17_166-16delinsTC) | |
14 | g.90404440_90404441delinsTG | CA2579770682 | CALM1 | c.347_348delinsTG (p.Lys116Met) c.239_240delinsTG (p.Lys80Met) c.350_351delinsTG (p.Lys117Met) c.219_220delinsTG (p.Lys73_Thr74delinsAsnAla) c.240_241delinsTG (p.Lys80_Thr81delinsAsnAla) n.2477_2478delinsTG n.399_400delinsTG n.273_274delinsTG c.166-17_166-16delinsTG (n.166-17_166-16delinsTG) | |
14 | g.90404440_90404441delinsTT | CA2579771419 | CALM1 | c.347_348delinsTT (p.Lys116Ile) c.239_240delinsTT (p.Lys80Ile) c.350_351delinsTT (p.Lys117Ile) c.219_220delinsTT (p.Lys73_Thr74delinsAsnSer) c.240_241delinsTT (p.Lys80_Thr81delinsAsnSer) n.2477_2478delinsTT n.399_400delinsTT n.273_274delinsTT c.166-17_166-16delinsTT (n.166-17_166-16delinsTT) | |
14 | g.90404441A>C | CA390690241 | CALM1 | c.348A>C (p.Lys116Asn) c.240A>C (p.Lys80Asn) c.351A>C (p.Lys117Asn) c.220A>C (p.Thr74Pro) c.241A>C (p.Thr81Pro) n.2478A>C n.400A>C n.274A>C c.166-16A>C (n.166-16A>C) | |
14 | g.90404441A>G | CA487760222 | CALM1 | c.348A>G (p.Lys116=) c.240A>G (p.Lys80=) c.351A>G (p.Lys117=) c.220A>G (p.Thr74Ala) c.241A>G (p.Thr81Ala) n.2478A>G n.400A>G n.274A>G c.166-16A>G (n.166-16A>G) | dbSNP |
14 | g.90404441A>T | CA390690242 | CALM1 | c.348A>T (p.Lys116Asn) c.240A>T (p.Lys80Asn) c.351A>T (p.Lys117Asn) c.220A>T (p.Thr74Ser) c.241A>T (p.Thr81Ser) n.2478A>T n.400A>T n.274A>T c.166-16A>T (n.166-16A>T) | |
14 | g.90404442C>A | CA390690243 | CALM1 | c.349C>A (p.Leu117Ile) c.241C>A (p.Leu81Ile) c.352C>A (p.Leu118Ile) c.221C>A (p.Thr74Asn) c.242C>A (p.Thr81Asn) n.2479C>A n.401C>A n.275C>A c.166-15C>A (n.166-15C>A) | |
14 | g.90404442C>G | CA390690244 | CALM1 | c.349C>G (p.Leu117Val) c.241C>G (p.Leu81Val) c.352C>G (p.Leu118Val) c.221C>G (p.Thr74Ser) c.242C>G (p.Thr81Ser) n.2479C>G n.401C>G n.275C>G c.166-15C>G (n.166-15C>G) | |
14 | g.90404442C>T | CA487760228 | CALM1 | c.349C>T (p.Leu117=) c.241C>T (p.Leu81=) c.352C>T (p.Leu118=) c.221C>T (p.Thr74Ile) c.242C>T (p.Thr81Ile) n.2479C>T n.401C>T n.275C>T c.166-15C>T (n.166-15C>T) | |
14 | g.90404442_90404443delinsAA | CA2579770542 | CALM1 | c.349_350delinsAA (p.Leu117Lys) c.241_242delinsAA (p.Leu81Lys) c.352_353delinsAA (p.Leu118Lys) c.221_222delinsAA (p.Thr74Lys) c.242_243delinsAA (p.Thr81Lys) n.2479_2480delinsAA n.401_402delinsAA n.275_276delinsAA c.166-15_166-14delinsAA (n.166-15_166-14delinsAA) | |
14 | g.90404442_90404443delinsAC | CA2579773836 | CALM1 | c.349_350delinsAC (p.Leu117Thr) c.241_242delinsAC (p.Leu81Thr) c.352_353delinsAC (p.Leu118Thr) c.221_222delinsAC (p.Thr74Asn) c.242_243delinsAC (p.Thr81Asn) n.2479_2480delinsAC n.401_402delinsAC n.275_276delinsAC c.166-15_166-14delinsAC (n.166-15_166-14delinsAC) | |
14 | g.90404442_90404443delinsAG | CA2579771228 | CALM1 | c.349_350delinsAG (p.Leu117Arg) c.241_242delinsAG (p.Leu81Arg) c.352_353delinsAG (p.Leu118Arg) c.221_222delinsAG (p.Thr74Lys) c.242_243delinsAG (p.Thr81Lys) n.2479_2480delinsAG n.401_402delinsAG n.275_276delinsAG c.166-15_166-14delinsAG (n.166-15_166-14delinsAG) | |
14 | g.90404442_90404443delinsGA | CA2579773274 | CALM1 | c.349_350delinsGA (p.Leu117Glu) c.241_242delinsGA (p.Leu81Glu) c.352_353delinsGA (p.Leu118Glu) c.221_222delinsGA (p.Thr74Arg) c.242_243delinsGA (p.Thr81Arg) n.2479_2480delinsGA n.401_402delinsGA n.275_276delinsGA c.166-15_166-14delinsGA (n.166-15_166-14delinsGA) | |
14 | g.90404442_90404443delinsGC | CA2579769842 | CALM1 | c.349_350delinsGC (p.Leu117Ala) c.241_242delinsGC (p.Leu81Ala) c.352_353delinsGC (p.Leu118Ala) c.221_222delinsGC (p.Thr74Ser) c.242_243delinsGC (p.Thr81Ser) n.2479_2480delinsGC n.401_402delinsGC n.275_276delinsGC c.166-15_166-14delinsGC (n.166-15_166-14delinsGC) | |
14 | g.90404442_90404443delinsGG | CA2579772199 | CALM1 | c.349_350delinsGG (p.Leu117Gly) c.241_242delinsGG (p.Leu81Gly) c.352_353delinsGG (p.Leu118Gly) c.221_222delinsGG (p.Thr74Arg) c.242_243delinsGG (p.Thr81Arg) n.2479_2480delinsGG n.401_402delinsGG n.275_276delinsGG c.166-15_166-14delinsGG (n.166-15_166-14delinsGG) | |
14 | g.90404442_90404443delinsTA | CA2579774324 | CALM1 | c.349_350delinsTA (p.Leu117Ter) c.241_242delinsTA (p.Leu81Ter) c.352_353delinsTA (p.Leu118Ter) c.221_222delinsTA (p.Thr74Ile) c.242_243delinsTA (p.Thr81Ile) n.2479_2480delinsTA n.401_402delinsTA n.275_276delinsTA c.166-15_166-14delinsTA (n.166-15_166-14delinsTA) | |
14 | g.90404442_90404443delinsTC | CA2579773546 | CALM1 | c.349_350delinsTC (p.Leu117Ser) c.241_242delinsTC (p.Leu81Ser) c.352_353delinsTC (p.Leu118Ser) c.221_222delinsTC (p.Thr74Ile) c.242_243delinsTC (p.Thr81Ile) n.2479_2480delinsTC n.401_402delinsTC n.275_276delinsTC c.166-15_166-14delinsTC (n.166-15_166-14delinsTC) | |
14 | g.90404442_90404443delinsTG | CA2579773539 | CALM1 | c.349_350delinsTG (p.Leu117Ter) c.241_242delinsTG (p.Leu81Ter) c.352_353delinsTG (p.Leu118Ter) c.221_222delinsTG (p.Thr74Met) c.242_243delinsTG (p.Thr81Met) n.2479_2480delinsTG n.401_402delinsTG n.275_276delinsTG c.166-15_166-14delinsTG (n.166-15_166-14delinsTG) | |
14 | g.90404442_90404444delinsAAG | CA2579771008 | CALM1 | c.349_351delinsAAG (p.Leu117Lys) c.241_243delinsAAG (p.Leu81Lys) c.352_354delinsAAG (p.Leu118Lys) c.221_223delinsAAG (p.Thr74_Asn75delinsLysAsp) c.242_244delinsAAG (p.Thr81_Asn82delinsLysAsp) n.2479_2481delinsAAG n.401_403delinsAAG n.275_277delinsAAG c.166-15_166-13delinsAAG (n.166-15_166-13delinsAAG) | |
14 | g.90404442_90404444delinsAAT | CA2579773983 | CALM1 | c.349_351delinsAAT (p.Leu117Asn) c.241_243delinsAAT (p.Leu81Asn) c.352_354delinsAAT (p.Leu118Asn) c.221_223delinsAAT (p.Thr74_Asn75delinsLysTyr) c.242_244delinsAAT (p.Thr81_Asn82delinsLysTyr) n.2479_2481delinsAAT n.401_403delinsAAT n.275_277delinsAAT c.166-15_166-13delinsAAT (n.166-15_166-13delinsAAT) | |
14 | g.90404442_90404444delinsACG | CA2579772541 | CALM1 | c.349_351delinsACG (p.Leu117Thr) c.241_243delinsACG (p.Leu81Thr) c.352_354delinsACG (p.Leu118Thr) c.221_223delinsACG (p.Thr74_Asn75delinsAsnAsp) c.242_244delinsACG (p.Thr81_Asn82delinsAsnAsp) n.2479_2481delinsACG n.401_403delinsACG n.275_277delinsACG c.166-15_166-13delinsACG (n.166-15_166-13delinsACG) | |
14 | g.90404442_90404444delinsAGG | CA2579772480 | CALM1 | c.349_351delinsAGG (p.Leu117Arg) c.241_243delinsAGG (p.Leu81Arg) c.352_354delinsAGG (p.Leu118Arg) c.221_223delinsAGG (p.Thr74_Asn75delinsLysAsp) c.242_244delinsAGG (p.Thr81_Asn82delinsLysAsp) n.2479_2481delinsAGG n.401_403delinsAGG n.275_277delinsAGG c.166-15_166-13delinsAGG (n.166-15_166-13delinsAGG) | |
14 | g.90404442_90404444delinsAGT | CA2579771244 | CALM1 | c.349_351delinsAGT (p.Leu117Ser) c.241_243delinsAGT (p.Leu81Ser) c.352_354delinsAGT (p.Leu118Ser) c.221_223delinsAGT (p.Thr74_Asn75delinsLysTyr) c.242_244delinsAGT (p.Thr81_Asn82delinsLysTyr) n.2479_2481delinsAGT n.401_403delinsAGT n.275_277delinsAGT c.166-15_166-13delinsAGT (n.166-15_166-13delinsAGT) | |
14 | g.90404442_90404444delinsATG | CA2579772264 | CALM1 | c.349_351delinsATG (p.Leu117Met) c.241_243delinsATG (p.Leu81Met) c.352_354delinsATG (p.Leu118Met) c.221_223delinsATG (p.Thr74_Asn75delinsAsnAsp) c.242_244delinsATG (p.Thr81_Asn82delinsAsnAsp) n.2479_2481delinsATG n.401_403delinsATG n.275_277delinsATG c.166-15_166-13delinsATG (n.166-15_166-13delinsATG) | |
14 | g.90404442_90404444delinsATT | CA2579769798 | CALM1 | c.349_351delinsATT (p.Leu117Ile) c.241_243delinsATT (p.Leu81Ile) c.352_354delinsATT (p.Leu118Ile) c.221_223delinsATT (p.Thr74_Asn75delinsAsnTyr) c.242_244delinsATT (p.Thr81_Asn82delinsAsnTyr) n.2479_2481delinsATT n.401_403delinsATT n.275_277delinsATT c.166-15_166-13delinsATT (n.166-15_166-13delinsATT) | |
14 | g.90404442_90404444delinsGAG | CA2579770816 | CALM1 | c.349_351delinsGAG (p.Leu117Glu) c.241_243delinsGAG (p.Leu81Glu) c.352_354delinsGAG (p.Leu118Glu) c.221_223delinsGAG (p.Thr74_Asn75delinsArgAsp) c.242_244delinsGAG (p.Thr81_Asn82delinsArgAsp) n.2479_2481delinsGAG n.401_403delinsGAG n.275_277delinsGAG c.166-15_166-13delinsGAG (n.166-15_166-13delinsGAG) | |
14 | g.90404442_90404444delinsGAT | CA2579770840 | CALM1 | c.349_351delinsGAT (p.Leu117Asp) c.241_243delinsGAT (p.Leu81Asp) c.352_354delinsGAT (p.Leu118Asp) c.221_223delinsGAT (p.Thr74_Asn75delinsArgTyr) c.242_244delinsGAT (p.Thr81_Asn82delinsArgTyr) n.2479_2481delinsGAT n.401_403delinsGAT n.275_277delinsGAT c.166-15_166-13delinsGAT (n.166-15_166-13delinsGAT) | |
14 | g.90404442_90404444delinsGCG | CA2579770115 | CALM1 | c.349_351delinsGCG (p.Leu117Ala) c.241_243delinsGCG (p.Leu81Ala) c.352_354delinsGCG (p.Leu118Ala) c.221_223delinsGCG (p.Thr74_Asn75delinsSerAsp) c.242_244delinsGCG (p.Thr81_Asn82delinsSerAsp) n.2479_2481delinsGCG n.401_403delinsGCG n.275_277delinsGCG c.166-15_166-13delinsGCG (n.166-15_166-13delinsGCG) | |
14 | g.90404442_90404444delinsGGG | CA2579772191 | CALM1 | c.349_351delinsGGG (p.Leu117Gly) c.241_243delinsGGG (p.Leu81Gly) c.352_354delinsGGG (p.Leu118Gly) c.221_223delinsGGG (p.Thr74_Asn75delinsArgAsp) c.242_244delinsGGG (p.Thr81_Asn82delinsArgAsp) n.2479_2481delinsGGG n.401_403delinsGGG n.275_277delinsGGG c.166-15_166-13delinsGGG (n.166-15_166-13delinsGGG) | |
14 | g.90404442_90404444delinsGGT | CA2579773743 | CALM1 | c.349_351delinsGGT (p.Leu117Gly) c.241_243delinsGGT (p.Leu81Gly) c.352_354delinsGGT (p.Leu118Gly) c.221_223delinsGGT (p.Thr74_Asn75delinsArgTyr) c.242_244delinsGGT (p.Thr81_Asn82delinsArgTyr) n.2479_2481delinsGGT n.401_403delinsGGT n.275_277delinsGGT c.166-15_166-13delinsGGT (n.166-15_166-13delinsGGT) | |
14 | g.90404442_90404444delinsGTG | CA2579770493 | CALM1 | c.349_351delinsGTG (p.Leu117Val) c.241_243delinsGTG (p.Leu81Val) c.352_354delinsGTG (p.Leu118Val) c.221_223delinsGTG (p.Thr74_Asn75delinsSerAsp) c.242_244delinsGTG (p.Thr81_Asn82delinsSerAsp) n.2479_2481delinsGTG n.401_403delinsGTG n.275_277delinsGTG c.166-15_166-13delinsGTG (n.166-15_166-13delinsGTG) | |
14 | g.90404442_90404444delinsGTT | CA2579771900 | CALM1 | c.349_351delinsGTT (p.Leu117Val) c.241_243delinsGTT (p.Leu81Val) c.352_354delinsGTT (p.Leu118Val) c.221_223delinsGTT (p.Thr74_Asn75delinsSerTyr) c.242_244delinsGTT (p.Thr81_Asn82delinsSerTyr) n.2479_2481delinsGTT n.401_403delinsGTT n.275_277delinsGTT c.166-15_166-13delinsGTT (n.166-15_166-13delinsGTT) | |
14 | g.90404442_90404444delinsTCG | CA2579772600 | CALM1 | c.349_351delinsTCG (p.Leu117Ser) c.241_243delinsTCG (p.Leu81Ser) c.352_354delinsTCG (p.Leu118Ser) c.221_223delinsTCG (p.Thr74_Asn75delinsIleAsp) c.242_244delinsTCG (p.Thr81_Asn82delinsIleAsp) n.2479_2481delinsTCG n.401_403delinsTCG n.275_277delinsTCG c.166-15_166-13delinsTCG (n.166-15_166-13delinsTCG) | |
14 | g.90404442_90404444delinsTGG | CA2579771200 | CALM1 | c.349_351delinsTGG (p.Leu117Trp) c.241_243delinsTGG (p.Leu81Trp) c.352_354delinsTGG (p.Leu118Trp) c.221_223delinsTGG (p.Thr74_Asn75delinsMetAsp) c.242_244delinsTGG (p.Thr81_Asn82delinsMetAsp) n.2479_2481delinsTGG n.401_403delinsTGG n.275_277delinsTGG c.166-15_166-13delinsTGG (n.166-15_166-13delinsTGG) | |
14 | g.90404442_90404444delinsTGT | CA2579773524 | CALM1 | c.349_351delinsTGT (p.Leu117Cys) c.241_243delinsTGT (p.Leu81Cys) c.352_354delinsTGT (p.Leu118Cys) c.221_223delinsTGT (p.Thr74_Asn75delinsMetTyr) c.242_244delinsTGT (p.Thr81_Asn82delinsMetTyr) n.2479_2481delinsTGT n.401_403delinsTGT n.275_277delinsTGT c.166-15_166-13delinsTGT (n.166-15_166-13delinsTGT) | |
14 | g.90404442_90404444delinsTTG | CA2579774238 | CALM1 | c.349_351delinsTTG (p.Leu117=) c.241_243delinsTTG (p.Leu81=) c.352_354delinsTTG (p.Leu118=) c.221_223delinsTTG (p.Thr74_Asn75delinsIleAsp) c.242_244delinsTTG (p.Thr81_Asn82delinsIleAsp) n.2479_2481delinsTTG n.401_403delinsTTG n.275_277delinsTTG c.166-15_166-13delinsTTG (n.166-15_166-13delinsTTG) | |
14 | g.90404442_90404444delinsTTT | CA2579773552 | CALM1 | c.349_351delinsTTT (p.Leu117Phe) c.241_243delinsTTT (p.Leu81Phe) c.352_354delinsTTT (p.Leu118Phe) c.221_223delinsTTT (p.Thr74_Asn75delinsIleTyr) c.242_244delinsTTT (p.Thr81_Asn82delinsIleTyr) n.2479_2481delinsTTT n.401_403delinsTTT n.275_277delinsTTT c.166-15_166-13delinsTTT (n.166-15_166-13delinsTTT) | |
14 | g.90404443T>A | CA390690245 | CALM1 | c.350T>A (p.Leu117Gln) c.242T>A (p.Leu81Gln) c.353T>A (p.Leu118Gln) c.222T>A (p.Thr74=) c.243T>A (p.Thr81=) n.2480T>A n.402T>A n.276T>A c.166-14T>A (n.166-14T>A) | |
14 | g.90404443T>C | CA390690246 | CALM1 | c.350T>C (p.Leu117Pro) c.242T>C (p.Leu81Pro) c.353T>C (p.Leu118Pro) c.222T>C (p.Thr74=) c.243T>C (p.Thr81=) n.2480T>C n.402T>C n.276T>C c.166-14T>C (n.166-14T>C) | |
14 | g.90404443T>G | CA390690247 | CALM1 | c.350T>G (p.Leu117Arg) c.242T>G (p.Leu81Arg) c.353T>G (p.Leu118Arg) c.222T>G (p.Thr74=) c.243T>G (p.Thr81=) n.2480T>G n.402T>G n.276T>G c.166-14T>G (n.166-14T>G) | |
14 | g.90404443_90404444delinsAG | CA2579773215 | CALM1 | c.350_351delinsAG (p.Leu117Gln) c.242_243delinsAG (p.Leu81Gln) c.353_354delinsAG (p.Leu118Gln) c.222_223delinsAG (p.Asn75Asp) c.243_244delinsAG (p.Asn82Asp) n.2480_2481delinsAG n.402_403delinsAG n.276_277delinsAG c.166-14_166-13delinsAG (n.166-14_166-13delinsAG) | |
14 | g.90404443_90404444delinsAT | CA2579771163 | CALM1 | c.350_351delinsAT (p.Leu117His) c.242_243delinsAT (p.Leu81His) c.353_354delinsAT (p.Leu118His) c.222_223delinsAT (p.Asn75Tyr) c.243_244delinsAT (p.Asn82Tyr) n.2480_2481delinsAT n.402_403delinsAT n.276_277delinsAT c.166-14_166-13delinsAT (n.166-14_166-13delinsAT) | |
14 | g.90404443_90404444delinsCC | CA2579769956 | CALM1 | c.350_351delinsCC (p.Leu117Pro) c.242_243delinsCC (p.Leu81Pro) c.353_354delinsCC (p.Leu118Pro) c.222_223delinsCC (p.Asn75His) c.243_244delinsCC (p.Asn82His) n.2480_2481delinsCC n.402_403delinsCC n.276_277delinsCC c.166-14_166-13delinsCC (n.166-14_166-13delinsCC) | |
14 | g.90404443_90404444delinsCG | CA2579773892 | CALM1 | c.350_351delinsCG (p.Leu117Pro) c.242_243delinsCG (p.Leu81Pro) c.353_354delinsCG (p.Leu118Pro) c.222_223delinsCG (p.Asn75Asp) c.243_244delinsCG (p.Asn82Asp) n.2480_2481delinsCG n.402_403delinsCG n.276_277delinsCG c.166-14_166-13delinsCG (n.166-14_166-13delinsCG) | |
14 | g.90404443_90404444delinsCT | CA2579771388 | CALM1 | c.350_351delinsCT (p.Leu117Pro) c.242_243delinsCT (p.Leu81Pro) c.353_354delinsCT (p.Leu118Pro) c.222_223delinsCT (p.Asn75Tyr) c.243_244delinsCT (p.Asn82Tyr) n.2480_2481delinsCT n.402_403delinsCT n.276_277delinsCT c.166-14_166-13delinsCT (n.166-14_166-13delinsCT) | |
14 | g.90404443_90404444delinsGG | CA2579771748 | CALM1 | c.350_351delinsGG (p.Leu117Arg) c.242_243delinsGG (p.Leu81Arg) c.353_354delinsGG (p.Leu118Arg) c.222_223delinsGG (p.Asn75Asp) c.243_244delinsGG (p.Asn82Asp) n.2480_2481delinsGG n.402_403delinsGG n.276_277delinsGG c.166-14_166-13delinsGG (n.166-14_166-13delinsGG) | |
14 | g.90404443_90404444delinsGT | CA2579774239 | CALM1 | c.350_351delinsGT (p.Leu117Arg) c.242_243delinsGT (p.Leu81Arg) c.353_354delinsGT (p.Leu118Arg) c.222_223delinsGT (p.Asn75Tyr) c.243_244delinsGT (p.Asn82Tyr) n.2480_2481delinsGT n.402_403delinsGT n.276_277delinsGT c.166-14_166-13delinsGT (n.166-14_166-13delinsGT) | |
14 | g.90404444A>C | CA487760238 | CALM1 | c.351A>C (p.Leu117=) c.243A>C (p.Leu81=) c.354A>C (p.Leu118=) c.223A>C (p.Asn75His) c.244A>C (p.Asn82His) n.2481A>C n.403A>C n.277A>C c.166-13A>C (n.166-13A>C) | |
14 | g.90404444A>G | CA487760236 | CALM1 | c.351A>G (p.Leu117=) c.243A>G (p.Leu81=) c.354A>G (p.Leu118=) c.223A>G (p.Asn75Asp) c.244A>G (p.Asn82Asp) n.2481A>G n.403A>G n.277A>G c.166-13A>G (n.166-13A>G) | |
14 | g.90404444A>T | CA487760233 | CALM1 | c.351A>T (p.Leu117=) c.243A>T (p.Leu81=) c.354A>T (p.Leu118=) c.223A>T (p.Asn75Tyr) c.244A>T (p.Asn82Tyr) n.2481A>T n.403A>T n.277A>T c.166-13A>T (n.166-13A>T) | |
14 | g.90404445A>C | CA390690248 | CALM1 | c.352A>C (p.Thr118Pro) c.244A>C (p.Thr82Pro) c.355A>C (p.Thr119Pro) c.224A>C (p.Asn75Thr) c.245A>C (p.Asn82Thr) n.2482A>C n.404A>C n.278A>C c.166-12A>C (n.166-12A>C) | |
14 | g.90404445A>G | CA390690249 | CALM1 | c.352A>G (p.Thr118Ala) c.244A>G (p.Thr82Ala) c.355A>G (p.Thr119Ala) c.224A>G (p.Asn75Ser) c.245A>G (p.Asn82Ser) n.2482A>G n.404A>G n.278A>G c.166-12A>G (n.166-12A>G) | |
14 | g.90404445A>T | CA390690250 | CALM1 | c.352A>T (p.Thr118Ser) c.244A>T (p.Thr82Ser) c.355A>T (p.Thr119Ser) c.224A>T (p.Asn75Ile) c.245A>T (p.Asn82Ile) n.2482A>T n.404A>T n.278A>T c.166-12A>T (n.166-12A>T) | |
14 | g.90404445_90404446delinsCA | CA2579771808 | CALM1 | c.352_353delinsCA (p.Thr118Gln) c.244_245delinsCA (p.Thr82Gln) c.355_356delinsCA (p.Thr119Gln) c.224_225delinsCA (p.Asn75Thr) c.245_246delinsCA (p.Asn82Thr) n.2482_2483delinsCA n.404_405delinsCA n.278_279delinsCA c.166-12_166-11delinsCA (n.166-12_166-11delinsCA) | |
14 | g.90404445_90404446delinsCG | CA2579770238 | CALM1 | c.352_353delinsCG (p.Thr118Arg) c.244_245delinsCG (p.Thr82Arg) c.355_356delinsCG (p.Thr119Arg) c.224_225delinsCG (p.Asn75Thr) c.245_246delinsCG (p.Asn82Thr) n.2482_2483delinsCG n.404_405delinsCG n.278_279delinsCG c.166-12_166-11delinsCG (n.166-12_166-11delinsCG) | |
14 | g.90404445_90404446delinsCT | CA2579772463 | CALM1 | c.352_353delinsCT (p.Thr118Leu) c.244_245delinsCT (p.Thr82Leu) c.355_356delinsCT (p.Thr119Leu) c.224_225delinsCT (p.Asn75Thr) c.245_246delinsCT (p.Asn82Thr) n.2482_2483delinsCT n.404_405delinsCT n.278_279delinsCT c.166-12_166-11delinsCT (n.166-12_166-11delinsCT) | |
14 | g.90404445_90404446delinsGA | CA2579771559 | CALM1 | c.352_353delinsGA (p.Thr118Glu) c.244_245delinsGA (p.Thr82Glu) c.355_356delinsGA (p.Thr119Glu) c.224_225delinsGA (p.Asn75Arg) c.245_246delinsGA (p.Asn82Arg) n.2482_2483delinsGA n.404_405delinsGA n.278_279delinsGA c.166-12_166-11delinsGA (n.166-12_166-11delinsGA) | |
14 | g.90404445_90404446delinsGG | CA2579771886 | CALM1 | c.352_353delinsGG (p.Thr118Gly) c.244_245delinsGG (p.Thr82Gly) c.355_356delinsGG (p.Thr119Gly) c.224_225delinsGG (p.Asn75Arg) c.245_246delinsGG (p.Asn82Arg) n.2482_2483delinsGG n.404_405delinsGG n.278_279delinsGG c.166-12_166-11delinsGG (n.166-12_166-11delinsGG) | |
14 | g.90404445_90404446delinsGT | CA2579771778 | CALM1 | c.352_353delinsGT (p.Thr118Val) c.244_245delinsGT (p.Thr82Val) c.355_356delinsGT (p.Thr119Val) c.224_225delinsGT (p.Asn75Ser) c.245_246delinsGT (p.Asn82Ser) n.2482_2483delinsGT n.404_405delinsGT n.278_279delinsGT c.166-12_166-11delinsGT (n.166-12_166-11delinsGT) | |
14 | g.90404445_90404446delinsTA | CA2579771185 | CALM1 | c.352_353delinsTA (p.Thr118Ter) c.244_245delinsTA (p.Thr82Ter) c.355_356delinsTA (p.Thr119Ter) c.224_225delinsTA (p.Asn75Ile) c.245_246delinsTA (p.Asn82Ile) n.2482_2483delinsTA n.404_405delinsTA n.278_279delinsTA c.166-12_166-11delinsTA (n.166-12_166-11delinsTA) | |
14 | g.90404445_90404446delinsTG | CA2579773895 | CALM1 | c.352_353delinsTG (p.Thr118Ter) c.244_245delinsTG (p.Thr82Ter) c.355_356delinsTG (p.Thr119Ter) c.224_225delinsTG (p.Asn75Met) c.245_246delinsTG (p.Asn82Met) n.2482_2483delinsTG n.404_405delinsTG n.278_279delinsTG c.166-12_166-11delinsTG (n.166-12_166-11delinsTG) | |
14 | g.90404445_90404446delinsTT | CA2579771295 | CALM1 | c.352_353delinsTT (p.Thr118Leu) c.244_245delinsTT (p.Thr82Leu) c.355_356delinsTT (p.Thr119Leu) c.224_225delinsTT (p.Asn75Ile) c.245_246delinsTT (p.Asn82Ile) n.2482_2483delinsTT n.404_405delinsTT n.278_279delinsTT c.166-12_166-11delinsTT (n.166-12_166-11delinsTT) | |
14 | g.90404445_90404447delinsCCG | CA2579770629 | CALM1 | c.352_354delinsCCG (p.Thr118Pro) c.244_246delinsCCG (p.Thr82Pro) c.355_357delinsCCG (p.Thr119Pro) c.224_226delinsCCG (p.Asn75_Arg76delinsThrGly) c.245_247delinsCCG (p.Asn82_Arg83delinsThrGly) n.2482_2484delinsCCG n.404_406delinsCCG n.278_280delinsCCG c.166-12_166-10delinsCCG (n.166-12_166-10delinsCCG) | |
14 | g.90404445_90404447delinsCCT | CA2579773349 | CALM1 | c.352_354delinsCCT (p.Thr118Pro) c.244_246delinsCCT (p.Thr82Pro) c.355_357delinsCCT (p.Thr119Pro) c.224_226delinsCCT (p.Asn75ThrfsTer2) c.245_247delinsCCT (p.Asn82ThrfsTer2) n.2482_2484delinsCCT n.404_406delinsCCT n.278_280delinsCCT c.166-12_166-10delinsCCT (n.166-12_166-10delinsCCT) | |
14 | g.90404445_90404447delinsCGG | CA2579772464 | CALM1 | c.352_354delinsCGG (p.Thr118Arg) c.244_246delinsCGG (p.Thr82Arg) c.355_357delinsCGG (p.Thr119Arg) c.224_226delinsCGG (p.Asn75_Arg76delinsThrGly) c.245_247delinsCGG (p.Asn82_Arg83delinsThrGly) n.2482_2484delinsCGG n.404_406delinsCGG n.278_280delinsCGG c.166-12_166-10delinsCGG (n.166-12_166-10delinsCGG) | |
14 | g.90404445_90404447delinsCGT | CA2579771658 | CALM1 | c.352_354delinsCGT (p.Thr118Arg) c.244_246delinsCGT (p.Thr82Arg) c.355_357delinsCGT (p.Thr119Arg) c.224_226delinsCGT (p.Asn75ThrfsTer2) c.245_247delinsCGT (p.Asn82ThrfsTer2) n.2482_2484delinsCGT n.404_406delinsCGT n.278_280delinsCGT c.166-12_166-10delinsCGT (n.166-12_166-10delinsCGT) | |
14 | g.90404445_90404447delinsCTG | CA2579773232 | CALM1 | c.352_354delinsCTG (p.Thr118Leu) c.244_246delinsCTG (p.Thr82Leu) c.355_357delinsCTG (p.Thr119Leu) c.224_226delinsCTG (p.Asn75_Arg76delinsThrGly) c.245_247delinsCTG (p.Asn82_Arg83delinsThrGly) n.2482_2484delinsCTG n.404_406delinsCTG n.278_280delinsCTG c.166-12_166-10delinsCTG (n.166-12_166-10delinsCTG) | |
14 | g.90404445_90404447delinsCTT | CA2579771931 | CALM1 | c.352_354delinsCTT (p.Thr118Leu) c.244_246delinsCTT (p.Thr82Leu) c.355_357delinsCTT (p.Thr119Leu) c.224_226delinsCTT (p.Asn75ThrfsTer2) c.245_247delinsCTT (p.Asn82ThrfsTer2) n.2482_2484delinsCTT n.404_406delinsCTT n.278_280delinsCTT c.166-12_166-10delinsCTT (n.166-12_166-10delinsCTT) | |
14 | g.90404445_90404447delinsGAG | CA2579773354 | CALM1 | c.352_354delinsGAG (p.Thr118Glu) c.244_246delinsGAG (p.Thr82Glu) c.355_357delinsGAG (p.Thr119Glu) c.224_226delinsGAG (p.Asn75_Arg76delinsArgGly) c.245_247delinsGAG (p.Asn82_Arg83delinsArgGly) n.2482_2484delinsGAG n.404_406delinsGAG n.278_280delinsGAG c.166-12_166-10delinsGAG (n.166-12_166-10delinsGAG) | |
14 | g.90404445_90404447delinsGAT | CA2579773270 | CALM1 | c.352_354delinsGAT (p.Thr118Asp) c.244_246delinsGAT (p.Thr82Asp) c.355_357delinsGAT (p.Thr119Asp) c.224_226delinsGAT (p.Asn75ArgfsTer2) c.245_247delinsGAT (p.Asn82ArgfsTer2) n.2482_2484delinsGAT n.404_406delinsGAT n.278_280delinsGAT c.166-12_166-10delinsGAT (n.166-12_166-10delinsGAT) | |
14 | g.90404445_90404447delinsGCC | CA2579773168 | CALM1 | c.352_354delinsGCC (p.Thr118Ala) c.244_246delinsGCC (p.Thr82Ala) c.355_357delinsGCC (p.Thr119Ala) c.224_226delinsGCC (p.Asn75Ser) c.245_247delinsGCC (p.Asn82Ser) n.2482_2484delinsGCC n.404_406delinsGCC n.278_280delinsGCC c.166-12_166-10delinsGCC (n.166-12_166-10delinsGCC) | |
14 | g.90404445_90404447delinsGCG | CA2579773341 | CALM1 | c.352_354delinsGCG (p.Thr118Ala) c.244_246delinsGCG (p.Thr82Ala) c.355_357delinsGCG (p.Thr119Ala) c.224_226delinsGCG (p.Asn75_Arg76delinsSerGly) c.245_247delinsGCG (p.Asn82_Arg83delinsSerGly) n.2482_2484delinsGCG n.404_406delinsGCG n.278_280delinsGCG c.166-12_166-10delinsGCG (n.166-12_166-10delinsGCG) | |
14 | g.90404445_90404447delinsGCT | CA2579772520 | CALM1 | c.352_354delinsGCT (p.Thr118Ala) c.244_246delinsGCT (p.Thr82Ala) c.355_357delinsGCT (p.Thr119Ala) c.224_226delinsGCT (p.Asn75SerfsTer2) c.245_247delinsGCT (p.Asn82SerfsTer2) n.2482_2484delinsGCT n.404_406delinsGCT n.278_280delinsGCT c.166-12_166-10delinsGCT (n.166-12_166-10delinsGCT) | |
14 | g.90404445_90404447delinsGGC | CA2579773209 | CALM1 | c.352_354delinsGGC (p.Thr118Gly) c.244_246delinsGGC (p.Thr82Gly) c.355_357delinsGGC (p.Thr119Gly) c.224_226delinsGGC (p.Asn75Arg) c.245_247delinsGGC (p.Asn82Arg) n.2482_2484delinsGGC n.404_406delinsGGC n.278_280delinsGGC c.166-12_166-10delinsGGC (n.166-12_166-10delinsGGC) | |
14 | g.90404445_90404447delinsGGG | CA2579771089 | CALM1 | c.352_354delinsGGG (p.Thr118Gly) c.244_246delinsGGG (p.Thr82Gly) c.355_357delinsGGG (p.Thr119Gly) c.224_226delinsGGG (p.Asn75_Arg76delinsArgGly) c.245_247delinsGGG (p.Asn82_Arg83delinsArgGly) n.2482_2484delinsGGG n.404_406delinsGGG n.278_280delinsGGG c.166-12_166-10delinsGGG (n.166-12_166-10delinsGGG) | |
14 | g.90404445_90404447delinsGGT | CA2579769983 | CALM1 | c.352_354delinsGGT (p.Thr118Gly) c.244_246delinsGGT (p.Thr82Gly) c.355_357delinsGGT (p.Thr119Gly) c.224_226delinsGGT (p.Asn75ArgfsTer2) c.245_247delinsGGT (p.Asn82ArgfsTer2) n.2482_2484delinsGGT n.404_406delinsGGT n.278_280delinsGGT c.166-12_166-10delinsGGT (n.166-12_166-10delinsGGT) | |
14 | g.90404445_90404447delinsGTG | CA2579770907 | CALM1 | c.352_354delinsGTG (p.Thr118Val) c.244_246delinsGTG (p.Thr82Val) c.355_357delinsGTG (p.Thr119Val) c.224_226delinsGTG (p.Asn75_Arg76delinsSerGly) c.245_247delinsGTG (p.Asn82_Arg83delinsSerGly) n.2482_2484delinsGTG n.404_406delinsGTG n.278_280delinsGTG c.166-12_166-10delinsGTG (n.166-12_166-10delinsGTG) | |
14 | g.90404445_90404447delinsGTT | CA2579771010 | CALM1 | c.352_354delinsGTT (p.Thr118Val) c.244_246delinsGTT (p.Thr82Val) c.355_357delinsGTT (p.Thr119Val) c.224_226delinsGTT (p.Asn75SerfsTer2) c.245_247delinsGTT (p.Asn82SerfsTer2) n.2482_2484delinsGTT n.404_406delinsGTT n.278_280delinsGTT c.166-12_166-10delinsGTT (n.166-12_166-10delinsGTT) | |
14 | g.90404445_90404447delinsTAG | CA2579772628 | CALM1 | c.352_354delinsTAG (p.Thr118Ter) c.244_246delinsTAG (p.Thr82Ter) c.355_357delinsTAG (p.Thr119Ter) c.224_226delinsTAG (p.Asn75_Arg76delinsIleGly) c.245_247delinsTAG (p.Asn82_Arg83delinsIleGly) n.2482_2484delinsTAG n.404_406delinsTAG n.278_280delinsTAG c.166-12_166-10delinsTAG (n.166-12_166-10delinsTAG) | |
14 | g.90404445_90404447delinsTAT | CA2579771465 | CALM1 | c.352_354delinsTAT (p.Thr118Tyr) c.244_246delinsTAT (p.Thr82Tyr) c.355_357delinsTAT (p.Thr119Tyr) c.224_226delinsTAT (p.Asn75IlefsTer2) c.245_247delinsTAT (p.Asn82IlefsTer2) n.2482_2484delinsTAT n.404_406delinsTAT n.278_280delinsTAT c.166-12_166-10delinsTAT (n.166-12_166-10delinsTAT) | |
14 | g.90404445_90404447delinsTCC | CA2579771686 | CALM1 | c.352_354delinsTCC (p.Thr118Ser) c.244_246delinsTCC (p.Thr82Ser) c.355_357delinsTCC (p.Thr119Ser) c.224_226delinsTCC (p.Asn75Ile) c.245_247delinsTCC (p.Asn82Ile) n.2482_2484delinsTCC n.404_406delinsTCC n.278_280delinsTCC c.166-12_166-10delinsTCC (n.166-12_166-10delinsTCC) | |
14 | g.90404445_90404447delinsTCG | CA2579773883 | CALM1 | c.352_354delinsTCG (p.Thr118Ser) c.244_246delinsTCG (p.Thr82Ser) c.355_357delinsTCG (p.Thr119Ser) c.224_226delinsTCG (p.Asn75_Arg76delinsIleGly) c.245_247delinsTCG (p.Asn82_Arg83delinsIleGly) n.2482_2484delinsTCG n.404_406delinsTCG n.278_280delinsTCG c.166-12_166-10delinsTCG (n.166-12_166-10delinsTCG) | |
14 | g.90404445_90404447delinsTCT | CA2579770077 | CALM1 | c.352_354delinsTCT (p.Thr118Ser) c.244_246delinsTCT (p.Thr82Ser) c.355_357delinsTCT (p.Thr119Ser) c.224_226delinsTCT (p.Asn75IlefsTer2) c.245_247delinsTCT (p.Asn82IlefsTer2) n.2482_2484delinsTCT n.404_406delinsTCT n.278_280delinsTCT c.166-12_166-10delinsTCT (n.166-12_166-10delinsTCT) | |
14 | g.90404445_90404447delinsTGG | CA2579773261 | CALM1 | c.352_354delinsTGG (p.Thr118Trp) c.244_246delinsTGG (p.Thr82Trp) c.355_357delinsTGG (p.Thr119Trp) c.224_226delinsTGG (p.Asn75_Arg76delinsMetGly) c.245_247delinsTGG (p.Asn82_Arg83delinsMetGly) n.2482_2484delinsTGG n.404_406delinsTGG n.278_280delinsTGG c.166-12_166-10delinsTGG (n.166-12_166-10delinsTGG) | |
14 | g.90404445_90404447delinsTGT | CA2579772831 | CALM1 | c.352_354delinsTGT (p.Thr118Cys) c.244_246delinsTGT (p.Thr82Cys) c.355_357delinsTGT (p.Thr119Cys) c.224_226delinsTGT (p.Asn75MetfsTer2) c.245_247delinsTGT (p.Asn82MetfsTer2) n.2482_2484delinsTGT n.404_406delinsTGT n.278_280delinsTGT c.166-12_166-10delinsTGT (n.166-12_166-10delinsTGT) | |
14 | g.90404445_90404447delinsTTG | CA2579773217 | CALM1 | c.352_354delinsTTG (p.Thr118Leu) c.244_246delinsTTG (p.Thr82Leu) c.355_357delinsTTG (p.Thr119Leu) c.224_226delinsTTG (p.Asn75_Arg76delinsIleGly) c.245_247delinsTTG (p.Asn82_Arg83delinsIleGly) n.2482_2484delinsTTG n.404_406delinsTTG n.278_280delinsTTG c.166-12_166-10delinsTTG (n.166-12_166-10delinsTTG) | |
14 | g.90404445_90404447delinsTTT | CA2579770806 | CALM1 | c.352_354delinsTTT (p.Thr118Phe) c.244_246delinsTTT (p.Thr82Phe) c.355_357delinsTTT (p.Thr119Phe) c.224_226delinsTTT (p.Asn75IlefsTer2) c.245_247delinsTTT (p.Asn82IlefsTer2) n.2482_2484delinsTTT n.404_406delinsTTT n.278_280delinsTTT c.166-12_166-10delinsTTT (n.166-12_166-10delinsTTT) | |
14 | g.90404446C>A | CA390690253 | CALM1 | c.353C>A (p.Thr118Lys) c.245C>A (p.Thr82Lys) c.356C>A (p.Thr119Lys) c.225C>A (p.Asn75Lys) c.246C>A (p.Asn82Lys) n.2483C>A n.405C>A n.279C>A c.166-11C>A (n.166-11C>A) | |
14 | g.90404446C>G | CA390690251 | CALM1 | c.353C>G (p.Thr118Arg) c.245C>G (p.Thr82Arg) c.356C>G (p.Thr119Arg) c.225C>G (p.Asn75Lys) c.246C>G (p.Asn82Lys) n.2483C>G n.405C>G n.279C>G c.166-11C>G (n.166-11C>G) | |
14 | g.90404446C>T | CA390690252 | CALM1 | c.353C>T (p.Thr118Ile) c.245C>T (p.Thr82Ile) c.356C>T (p.Thr119Ile) c.225C>T (p.Asn75=) c.246C>T (p.Asn82=) n.2483C>T n.405C>T n.279C>T c.166-11C>T (n.166-11C>T) | |
14 | g.90404446_90404447delinsAC | CA2579773871 | CALM1 | c.353_354delinsAC (p.Thr118Asn) c.245_246delinsAC (p.Thr82Asn) c.356_357delinsAC (p.Thr119Asn) c.225_226delinsAC (p.Asn75Lys) c.246_247delinsAC (p.Asn82Lys) n.2483_2484delinsAC n.405_406delinsAC n.279_280delinsAC c.166-11_166-10delinsAC (n.166-11_166-10delinsAC) | |
14 | g.90404446_90404447delinsAG | CA2579773183 | CALM1 | c.353_354delinsAG (p.Thr118Lys) c.245_246delinsAG (p.Thr82Lys) c.356_357delinsAG (p.Thr119Lys) c.225_226delinsAG (p.Asn75_Arg76delinsLysGly) c.246_247delinsAG (p.Asn82_Arg83delinsLysGly) n.2483_2484delinsAG n.405_406delinsAG n.279_280delinsAG c.166-11_166-10delinsAG (n.166-11_166-10delinsAG) | |
14 | g.90404446_90404447delinsAT | CA2579773392 | CALM1 | c.353_354delinsAT (p.Thr118Asn) c.245_246delinsAT (p.Thr82Asn) c.356_357delinsAT (p.Thr119Asn) c.225_226delinsAT (p.Asn75LysfsTer2) c.246_247delinsAT (p.Asn82LysfsTer2) n.2483_2484delinsAT n.405_406delinsAT n.279_280delinsAT c.166-11_166-10delinsAT (n.166-11_166-10delinsAT) | |
14 | g.90404446_90404447delinsGC | CA2579772725 | CALM1 | c.353_354delinsGC (p.Thr118Ser) c.245_246delinsGC (p.Thr82Ser) c.356_357delinsGC (p.Thr119Ser) c.225_226delinsGC (p.Asn75Lys) c.246_247delinsGC (p.Asn82Lys) n.2483_2484delinsGC n.405_406delinsGC n.279_280delinsGC c.166-11_166-10delinsGC (n.166-11_166-10delinsGC) | |
14 | g.90404446_90404447delinsGG | CA2579772729 | CALM1 | c.353_354delinsGG (p.Thr118Arg) c.245_246delinsGG (p.Thr82Arg) c.356_357delinsGG (p.Thr119Arg) c.225_226delinsGG (p.Asn75_Arg76delinsLysGly) c.246_247delinsGG (p.Asn82_Arg83delinsLysGly) n.2483_2484delinsGG n.405_406delinsGG n.279_280delinsGG c.166-11_166-10delinsGG (n.166-11_166-10delinsGG) | |
14 | g.90404446_90404447delinsGT | CA2579770032 | CALM1 | c.353_354delinsGT (p.Thr118Ser) c.245_246delinsGT (p.Thr82Ser) c.356_357delinsGT (p.Thr119Ser) c.225_226delinsGT (p.Asn75LysfsTer2) c.246_247delinsGT (p.Asn82LysfsTer2) n.2483_2484delinsGT n.405_406delinsGT n.279_280delinsGT c.166-11_166-10delinsGT (n.166-11_166-10delinsGT) | |
14 | g.90404446_90404447delinsTG | CA2579774252 | CALM1 | c.353_354delinsTG (p.Thr118Met) c.245_246delinsTG (p.Thr82Met) c.356_357delinsTG (p.Thr119Met) c.225_226delinsTG (p.Arg76Gly) c.246_247delinsTG (p.Arg83Gly) n.2483_2484delinsTG n.405_406delinsTG n.279_280delinsTG c.166-11_166-10delinsTG (n.166-11_166-10delinsTG) | |
14 | g.90404446_90404447delinsTT | CA2579773289 | CALM1 | c.353_354delinsTT (p.Thr118Ile) c.245_246delinsTT (p.Thr82Ile) c.356_357delinsTT (p.Thr119Ile) c.225_226delinsTT (p.Asn76Ter) c.246_247delinsTT (p.Asn83Ter) n.2483_2484delinsTT n.405_406delinsTT n.279_280delinsTT c.166-11_166-10delinsTT (n.166-11_166-10delinsTT) | |
14 | g.90404447A= | CA2154484129 | CALM1 | c.354A= (p.Thr118=) c.246A= (p.Thr82=) c.357A= (p.Thr119=) c.226A= (p.Arg76=) c.247A= (p.Arg83=) n.2484A= n.406A= n.280A= c.166-10A= (n.166-10A=) | |
14 | g.90404447A>C | CA487760251 | CALM1 | c.354A>C (p.Thr118=) c.246A>C (p.Thr82=) c.357A>C (p.Thr119=) c.226A>C (p.Arg76=) c.247A>C (p.Arg83=) n.2484A>C n.406A>C n.280A>C c.166-10A>C (n.166-10A>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404447A>G | CA487760249 | CALM1 | c.354A>G (p.Thr118=) c.246A>G (p.Thr82=) c.357A>G (p.Thr119=) c.226A>G (p.Arg76Gly) c.247A>G (p.Arg83Gly) n.2484A>G n.406A>G n.280A>G c.166-10A>G (n.166-10A>G) | |
14 | g.90404447A>T | CA487760248 | CALM1 | c.354A>T (p.Thr118=) c.246A>T (p.Thr82=) c.357A>T (p.Thr119=) c.226A>T (p.Arg76Ter) c.247A>T (p.Arg83Ter) n.2484A>T n.406A>T n.280A>T c.166-10A>T (n.166-10A>T) | |
14 | g.90404448G>A | CA390690254 | CALM1 | c.355G>A (p.Asp119Asn) c.247G>A (p.Asp83Asn) c.358G>A (p.Asp120Asn) c.227G>A (p.Arg76Lys) c.248G>A (p.Arg83Lys) n.2485G>A n.407G>A n.281G>A c.166-9G>A (n.166-9G>A) | |
14 | g.90404448G>C | CA390690255 | CALM1 | c.355G>C (p.Asp119His) c.247G>C (p.Asp83His) c.358G>C (p.Asp120His) c.227G>C (p.Arg76Thr) c.248G>C (p.Arg83Thr) n.2485G>C n.407G>C n.281G>C c.166-9G>C (n.166-9G>C) | |
14 | g.90404448G>T | CA390690256 | CALM1 | c.355G>T (p.Asp119Tyr) c.247G>T (p.Asp83Tyr) c.358G>T (p.Asp120Tyr) c.227G>T (p.Arg76Ile) c.248G>T (p.Arg83Ile) n.2485G>T n.407G>T n.281G>T c.166-9G>T (n.166-9G>T) | |
14 | g.90404448_90404449delinsAC | CA2579772929 | CALM1 | c.355_356delinsAC (p.Asp119Thr) c.247_248delinsAC (p.Asp83Thr) c.358_359delinsAC (p.Asp120Thr) c.227_228delinsAC (p.Arg76Asn) c.248_249delinsAC (p.Arg83Asn) n.2485_2486delinsAC n.407_408delinsAC n.281_282delinsAC c.166-9_166-8delinsAC (n.166-9_166-8delinsAC) | |
14 | g.90404448_90404449delinsAG | CA2579770769 | CALM1 | c.355_356delinsAG (p.Asp119Ser) c.247_248delinsAG (p.Asp83Ser) c.358_359delinsAG (p.Asp120Ser) c.227_228delinsAG (p.Arg76Lys) c.248_249delinsAG (p.Arg83Lys) n.2485_2486delinsAG n.407_408delinsAG n.281_282delinsAG c.166-9_166-8delinsAG (n.166-9_166-8delinsAG) | |
14 | g.90404448_90404449delinsAT | CA2579773160 | CALM1 | c.355_356delinsAT (p.Asp119Ile) c.247_248delinsAT (p.Asp83Ile) c.358_359delinsAT (p.Asp120Ile) c.227_228delinsAT (p.Arg76Asn) c.248_249delinsAT (p.Arg83Asn) n.2485_2486delinsAT n.407_408delinsAT n.281_282delinsAT c.166-9_166-8delinsAT (n.166-9_166-8delinsAT) | |
14 | g.90404448_90404449delinsCC | CA2579772679 | CALM1 | c.355_356delinsCC (p.Asp119Pro) c.247_248delinsCC (p.Asp83Pro) c.358_359delinsCC (p.Asp120Pro) c.227_228delinsCC (p.Arg76Thr) c.248_249delinsCC (p.Arg83Thr) n.2485_2486delinsCC n.407_408delinsCC n.281_282delinsCC c.166-9_166-8delinsCC (n.166-9_166-8delinsCC) | |
14 | g.90404448_90404449delinsCG | CA2579774048 | CALM1 | c.355_356delinsCG (p.Asp119Arg) c.247_248delinsCG (p.Asp83Arg) c.358_359delinsCG (p.Asp120Arg) c.227_228delinsCG (p.Arg76Thr) c.248_249delinsCG (p.Arg83Thr) n.2485_2486delinsCG n.407_408delinsCG n.281_282delinsCG c.166-9_166-8delinsCG (n.166-9_166-8delinsCG) | |
14 | g.90404448_90404449delinsCT | CA2579772353 | CALM1 | c.355_356delinsCT (p.Asp119Leu) c.247_248delinsCT (p.Asp83Leu) c.358_359delinsCT (p.Asp120Leu) c.227_228delinsCT (p.Arg76Thr) c.248_249delinsCT (p.Arg83Thr) n.2485_2486delinsCT n.407_408delinsCT n.281_282delinsCT c.166-9_166-8delinsCT (n.166-9_166-8delinsCT) | |
14 | g.90404448_90404449delinsTC | CA2579771807 | CALM1 | c.355_356delinsTC (p.Asp119Ser) c.247_248delinsTC (p.Asp83Ser) c.358_359delinsTC (p.Asp120Ser) c.227_228delinsTC (p.Arg76Ile) c.248_249delinsTC (p.Arg83Ile) n.2485_2486delinsTC n.407_408delinsTC n.281_282delinsTC c.166-9_166-8delinsTC (n.166-9_166-8delinsTC) | |
14 | g.90404448_90404449delinsTG | CA2579773579 | CALM1 | c.355_356delinsTG (p.Asp119Cys) c.247_248delinsTG (p.Asp83Cys) c.358_359delinsTG (p.Asp120Cys) c.227_228delinsTG (p.Arg76Met) c.248_249delinsTG (p.Arg83Met) n.2485_2486delinsTG n.407_408delinsTG n.281_282delinsTG c.166-9_166-8delinsTG (n.166-9_166-8delinsTG) | |
14 | g.90404448_90404449delinsTT | CA2579772395 | CALM1 | c.355_356delinsTT (p.Asp119Phe) c.247_248delinsTT (p.Asp83Phe) c.358_359delinsTT (p.Asp120Phe) c.227_228delinsTT (p.Arg76Ile) c.248_249delinsTT (p.Arg83Ile) n.2485_2486delinsTT n.407_408delinsTT n.281_282delinsTT c.166-9_166-8delinsTT (n.166-9_166-8delinsTT) | |
14 | g.90404448_90404450delinsAAA | CA2579771114 | CALM1 | c.355_357delinsAAA (p.Asp119Lys) c.247_249delinsAAA (p.Asp83Lys) c.358_360delinsAAA (p.Asp120Lys) c.227_229delinsAAA (p.Arg76_Ter77delinsLysArg) c.248_250delinsAAA (p.Arg83_Ter84delinsLysArg) n.2485_2487delinsAAA n.407_409delinsAAA n.281_283delinsAAA c.166-9_166-7delinsAAA (n.166-9_166-7delinsAAA) | |
14 | g.90404448_90404450delinsAAC | CA2579771128 | CALM1 | c.355_357delinsAAC (p.Asp119Asn) c.247_249delinsAAC (p.Asp83Asn) c.358_360delinsAAC (p.Asp120Asn) c.227_229delinsAAC (p.Arg76_Ter77delinsLysArg) c.248_250delinsAAC (p.Arg83_Ter84delinsLysArg) n.2485_2487delinsAAC n.407_409delinsAAC n.281_283delinsAAC c.166-9_166-7delinsAAC (n.166-9_166-7delinsAAC) | |
14 | g.90404448_90404450delinsAAG | CA2579770642 | CALM1 | c.355_357delinsAAG (p.Asp119Lys) c.247_249delinsAAG (p.Asp83Lys) c.358_360delinsAAG (p.Asp120Lys) c.227_229delinsAAG (p.Arg76_Ter77delinsLysGly) c.248_250delinsAAG (p.Arg83_Ter84delinsLysGly) n.2485_2487delinsAAG n.407_409delinsAAG n.281_283delinsAAG c.166-9_166-7delinsAAG (n.166-9_166-7delinsAAG) | |
14 | g.90404448_90404450delinsACA | CA2579773638 | CALM1 | c.355_357delinsACA (p.Asp119Thr) c.247_249delinsACA (p.Asp83Thr) c.358_360delinsACA (p.Asp120Thr) c.227_229delinsACA (p.Arg76_Ter77delinsAsnArg) c.248_250delinsACA (p.Arg83_Ter84delinsAsnArg) n.2485_2487delinsACA n.407_409delinsACA n.281_283delinsACA c.166-9_166-7delinsACA (n.166-9_166-7delinsACA) | |
14 | g.90404448_90404450delinsACG | CA2579772538 | CALM1 | c.355_357delinsACG (p.Asp119Thr) c.247_249delinsACG (p.Asp83Thr) c.358_360delinsACG (p.Asp120Thr) c.227_229delinsACG (p.Arg76_Ter77delinsAsnGly) c.248_250delinsACG (p.Arg83_Ter84delinsAsnGly) n.2485_2487delinsACG n.407_409delinsACG n.281_283delinsACG c.166-9_166-7delinsACG (n.166-9_166-7delinsACG) | |
14 | g.90404448_90404450delinsAGG | CA2579771162 | CALM1 | c.355_357delinsAGG (p.Asp119Arg) c.247_249delinsAGG (p.Asp83Arg) c.358_360delinsAGG (p.Asp120Arg) c.227_229delinsAGG (p.Arg76_Ter77delinsLysGly) c.248_250delinsAGG (p.Arg83_Ter84delinsLysGly) n.2485_2487delinsAGG n.407_409delinsAGG n.281_283delinsAGG c.166-9_166-7delinsAGG (n.166-9_166-7delinsAGG) | |
14 | g.90404448_90404450delinsCAC | CA2579774331 | CALM1 | c.355_357delinsCAC (p.Asp119His) c.247_249delinsCAC (p.Asp83His) c.358_360delinsCAC (p.Asp120His) c.227_229delinsCAC (p.Arg76_Ter77delinsThrArg) c.248_250delinsCAC (p.Arg83_Ter84delinsThrArg) n.2485_2487delinsCAC n.407_409delinsCAC n.281_283delinsCAC c.166-9_166-7delinsCAC (n.166-9_166-7delinsCAC) | |
14 | g.90404448_90404450delinsCAG | CA2579770697 | CALM1 | c.355_357delinsCAG (p.Asp119Gln) c.247_249delinsCAG (p.Asp83Gln) c.358_360delinsCAG (p.Asp120Gln) c.227_229delinsCAG (p.Arg76_Ter77delinsThrGly) c.248_250delinsCAG (p.Arg83_Ter84delinsThrGly) n.2485_2487delinsCAG n.407_409delinsCAG n.281_283delinsCAG c.166-9_166-7delinsCAG (n.166-9_166-7delinsCAG) | |
14 | g.90404448_90404450delinsCCG | CA2579772104 | CALM1 | c.355_357delinsCCG (p.Asp119Pro) c.247_249delinsCCG (p.Asp83Pro) c.358_360delinsCCG (p.Asp120Pro) c.227_229delinsCCG (p.Arg76_Ter77delinsThrGly) c.248_250delinsCCG (p.Arg83_Ter84delinsThrGly) n.2485_2487delinsCCG n.407_409delinsCCG n.281_283delinsCCG c.166-9_166-7delinsCCG (n.166-9_166-7delinsCCG) | |
14 | g.90404448_90404450delinsCGG | CA2579772370 | CALM1 | c.355_357delinsCGG (p.Asp119Arg) c.247_249delinsCGG (p.Asp83Arg) c.358_360delinsCGG (p.Asp120Arg) c.227_229delinsCGG (p.Arg76_Ter77delinsThrGly) c.248_250delinsCGG (p.Arg83_Ter84delinsThrGly) n.2485_2487delinsCGG n.407_409delinsCGG n.281_283delinsCGG c.166-9_166-7delinsCGG (n.166-9_166-7delinsCGG) | |
14 | g.90404448_90404450delinsCTG | CA2579773116 | CALM1 | c.355_357delinsCTG (p.Asp119Leu) c.247_249delinsCTG (p.Asp83Leu) c.358_360delinsCTG (p.Asp120Leu) c.227_229delinsCTG (p.Arg76_Ter77delinsThrGly) c.248_250delinsCTG (p.Arg83_Ter84delinsThrGly) n.2485_2487delinsCTG n.407_409delinsCTG n.281_283delinsCTG c.166-9_166-7delinsCTG (n.166-9_166-7delinsCTG) | |
14 | g.90404448_90404450delinsTAC | CA2579770641 | CALM1 | c.355_357delinsTAC (p.Asp119Tyr) c.247_249delinsTAC (p.Asp83Tyr) c.358_360delinsTAC (p.Asp120Tyr) c.227_229delinsTAC (p.Arg76_Ter77delinsIleArg) c.248_250delinsTAC (p.Arg83_Ter84delinsIleArg) n.2485_2487delinsTAC n.407_409delinsTAC n.281_283delinsTAC c.166-9_166-7delinsTAC (n.166-9_166-7delinsTAC) | |
14 | g.90404448_90404450delinsTAG | CA2579772181 | CALM1 | c.355_357delinsTAG (p.Asp119Ter) c.247_249delinsTAG (p.Asp83Ter) c.358_360delinsTAG (p.Asp120Ter) c.227_229delinsTAG (p.Arg76_Ter77delinsIleGly) c.248_250delinsTAG (p.Arg83_Ter84delinsIleGly) n.2485_2487delinsTAG n.407_409delinsTAG n.281_283delinsTAG c.166-9_166-7delinsTAG (n.166-9_166-7delinsTAG) | |
14 | g.90404448_90404450delinsTCC | CA2579773147 | CALM1 | c.355_357delinsTCC (p.Asp119Ser) c.247_249delinsTCC (p.Asp83Ser) c.358_360delinsTCC (p.Asp120Ser) c.227_229delinsTCC (p.Arg76_Ter77delinsIleArg) c.248_250delinsTCC (p.Arg83_Ter84delinsIleArg) n.2485_2487delinsTCC n.407_409delinsTCC n.281_283delinsTCC c.166-9_166-7delinsTCC (n.166-9_166-7delinsTCC) | |
14 | g.90404448_90404450delinsTCG | CA2579770561 | CALM1 | c.355_357delinsTCG (p.Asp119Ser) c.247_249delinsTCG (p.Asp83Ser) c.358_360delinsTCG (p.Asp120Ser) c.227_229delinsTCG (p.Arg76_Ter77delinsIleGly) c.248_250delinsTCG (p.Arg83_Ter84delinsIleGly) n.2485_2487delinsTCG n.407_409delinsTCG n.281_283delinsTCG c.166-9_166-7delinsTCG (n.166-9_166-7delinsTCG) | |
14 | g.90404448_90404450delinsTGG | CA2579772378 | CALM1 | c.355_357delinsTGG (p.Asp119Trp) c.247_249delinsTGG (p.Asp83Trp) c.358_360delinsTGG (p.Asp120Trp) c.227_229delinsTGG (p.Arg76_Ter77delinsMetGly) c.248_250delinsTGG (p.Arg83_Ter84delinsMetGly) n.2485_2487delinsTGG n.407_409delinsTGG n.281_283delinsTGG c.166-9_166-7delinsTGG (n.166-9_166-7delinsTGG) | |
14 | g.90404448_90404450delinsTTG | CA2579773479 | CALM1 | c.355_357delinsTTG (p.Asp119Leu) c.247_249delinsTTG (p.Asp83Leu) c.358_360delinsTTG (p.Asp120Leu) c.227_229delinsTTG (p.Arg76_Ter77delinsIleGly) c.248_250delinsTTG (p.Arg83_Ter84delinsIleGly) n.2485_2487delinsTTG n.407_409delinsTTG n.281_283delinsTTG c.166-9_166-7delinsTTG (n.166-9_166-7delinsTTG) | |
14 | g.90404449A>C | CA390690257 | CALM1 | c.356A>C (p.Asp119Ala) c.248A>C (p.Asp83Ala) c.359A>C (p.Asp120Ala) c.228A>C (p.Arg76Ser) c.249A>C (p.Arg83Ser) n.2486A>C n.408A>C n.282A>C c.166-8A>C (n.166-8A>C) | |
14 | g.90404449A>G | CA390690258 | CALM1 | c.356A>G (p.Asp119Gly) c.248A>G (p.Asp83Gly) c.359A>G (p.Asp120Gly) c.228A>G (p.Arg76=) c.249A>G (p.Arg83=) n.2486A>G n.408A>G n.282A>G c.166-8A>G (n.166-8A>G) | |
14 | g.90404449A>T | CA390690259 | CALM1 | c.356A>T (p.Asp119Val) c.248A>T (p.Asp83Val) c.359A>T (p.Asp120Val) c.228A>T (p.Arg76Ser) c.249A>T (p.Arg83Ser) n.2486A>T n.408A>T n.282A>T c.166-8A>T (n.166-8A>T) | |
14 | g.90404449_90404450delinsCA | CA2579771155 | CALM1 | c.356_357delinsCA (p.Asp119Ala) c.248_249delinsCA (p.Asp83Ala) c.359_360delinsCA (p.Asp120Ala) c.228_229delinsCA (p.Arg76_Ter77delinsSerArg) c.249_250delinsCA (p.Arg83_Ter84delinsSerArg) n.2486_2487delinsCA n.408_409delinsCA n.282_283delinsCA c.166-8_166-7delinsCA (n.166-8_166-7delinsCA) | |
14 | g.90404449_90404450delinsCC | CA2579773064 | CALM1 | c.356_357delinsCC (p.Asp119Ala) c.248_249delinsCC (p.Asp83Ala) c.359_360delinsCC (p.Asp120Ala) c.228_229delinsCC (p.Arg76_Ter77delinsSerArg) c.249_250delinsCC (p.Arg83_Ter84delinsSerArg) n.2486_2487delinsCC n.408_409delinsCC n.282_283delinsCC c.166-8_166-7delinsCC (n.166-8_166-7delinsCC) | |
14 | g.90404449_90404450delinsCG | CA2579773844 | CALM1 | c.356_357delinsCG (p.Asp119Ala) c.248_249delinsCG (p.Asp83Ala) c.359_360delinsCG (p.Asp120Ala) c.228_229delinsCG (p.Arg76_Ter77delinsSerGly) c.249_250delinsCG (p.Arg83_Ter84delinsSerGly) n.2486_2487delinsCG n.408_409delinsCG n.282_283delinsCG c.166-8_166-7delinsCG (n.166-8_166-7delinsCG) | |
14 | g.90404449_90404450delinsGA | CA2579773943 | CALM1 | c.356_357delinsGA (p.Asp119Gly) c.248_249delinsGA (p.Asp83Gly) c.359_360delinsGA (p.Asp120Gly) c.228_229delinsGA (p.Ter77Arg) c.249_250delinsGA (p.Ter84Arg) n.2486_2487delinsGA n.408_409delinsGA n.282_283delinsGA c.166-8_166-7delinsGA (n.166-8_166-7delinsGA) | |
14 | g.90404449_90404450delinsGC | CA2579773022 | CALM1 | c.356_357delinsGC (p.Asp119Gly) c.248_249delinsGC (p.Asp83Gly) c.359_360delinsGC (p.Asp120Gly) c.228_229delinsGC (p.Ter77Arg) c.249_250delinsGC (p.Ter84Arg) n.2486_2487delinsGC n.408_409delinsGC n.282_283delinsGC c.166-8_166-7delinsGC (n.166-8_166-7delinsGC) | |
14 | g.90404449_90404450delinsGG | CA2579772935 | CALM1 | c.356_357delinsGG (p.Asp119Gly) c.248_249delinsGG (p.Asp83Gly) c.359_360delinsGG (p.Asp120Gly) c.228_229delinsGG (p.Ter77Gly) c.249_250delinsGG (p.Ter84Gly) n.2486_2487delinsGG n.408_409delinsGG n.282_283delinsGG c.166-8_166-7delinsGG (n.166-8_166-7delinsGG) | |
14 | g.90404449_90404450delinsTC | CA2579772645 | CALM1 | c.356_357delinsTC (p.Asp119Val) c.248_249delinsTC (p.Asp83Val) c.359_360delinsTC (p.Asp120Val) c.228_229delinsTC (p.Arg76_Ter77delinsSerArg) c.249_250delinsTC (p.Arg83_Ter84delinsSerArg) n.2486_2487delinsTC n.408_409delinsTC n.282_283delinsTC c.166-8_166-7delinsTC (n.166-8_166-7delinsTC) | |
14 | g.90404449_90404450delinsTG | CA2579769859 | CALM1 | c.356_357delinsTG (p.Asp119Val) c.248_249delinsTG (p.Asp83Val) c.359_360delinsTG (p.Asp120Val) c.228_229delinsTG (p.Arg76_Ter77delinsSerGly) c.249_250delinsTG (p.Arg83_Ter84delinsSerGly) n.2486_2487delinsTG n.408_409delinsTG n.282_283delinsTG c.166-8_166-7delinsTG (n.166-8_166-7delinsTG) | |
14 | g.90404450T>A | CA390690260 | CALM1 | c.357T>A (p.Asp119Glu) c.249T>A (p.Asp83Glu) c.360T>A (p.Asp120Glu) c.229T>A (p.Ter77Arg) c.250T>A (p.Ter84Arg) n.2487T>A n.409T>A n.283T>A c.166-7T>A (n.166-7T>A) | |
14 | g.90404450T>C | CA487760260 | CALM1 | c.357T>C (p.Asp119=) c.249T>C (p.Asp83=) c.360T>C (p.Asp120=) c.229T>C (p.Ter77Arg) c.250T>C (p.Ter84Arg) n.2487T>C n.409T>C n.283T>C c.166-7T>C (n.166-7T>C) | |
14 | g.90404450T>G | CA390690261 | CALM1 | c.357T>G (p.Asp119Glu) c.249T>G (p.Asp83Glu) c.360T>G (p.Asp120Glu) c.229T>G (p.Ter77Gly) c.250T>G (p.Ter84Gly) n.2487T>G n.409T>G n.283T>G c.166-7T>G (n.166-7T>G) | |
14 | g.90404450_90404453delinsTGAA | CA2154484132 | CALM1 | c.357_360delinsTGAA (p.Asp119=) c.249_252delinsTGAA (p.Asp83=) c.360_363delinsTGAA (p.Asp120=) c.229_232delinsTGAA (n.[c.229_232delinsTGAA;Ter77=]) c.250_*1delinsTGAA (n.[c.250_*1delinsTGAA;Ter84=]) n.2487_2490delinsTGAA n.409_412delinsTGAA n.283_286delinsTGAA c.166-7_166-4delinsTGAA (n.166-7_166-4delinsTGAA) | |
14 | g.90404451G>A | CA390690262 | CALM1 | c.358G>A (p.Glu120Lys) c.250G>A (p.Glu84Lys) c.361G>A (p.Glu121Lys) c.230G>A (p.Ter77=) c.251G>A (p.Ter84=) n.2488G>A n.410G>A n.284G>A c.166-6G>A (n.166-6G>A) | ClinVar |
14 | g.90404451G>C | CA390690263 | CALM1 | c.358G>C (p.Glu120Gln) c.250G>C (p.Glu84Gln) c.361G>C (p.Glu121Gln) c.230G>C (p.Ter77Ser) c.251G>C (p.Ter84Ser) n.2488G>C n.410G>C n.284G>C c.166-6G>C (n.166-6G>C) | |
14 | g.90404451G>T | CA390690264 | CALM1 | c.358G>T (p.Glu120Ter) c.250G>T (p.Glu84Ter) c.361G>T (p.Glu121Ter) c.230G>T (p.Ter77Leu) c.251G>T (p.Ter84Leu) n.2488G>T n.410G>T n.284G>T c.166-6G>T (n.166-6G>T) | |
14 | g.90404451_90404452delinsAC | CA2579771979 | CALM1 | c.358_359delinsAC (p.Glu120Thr) c.250_251delinsAC (p.Glu84Thr) c.361_362delinsAC (p.Glu121Thr) c.230_231delinsAC (p.Ter77Tyr) c.251_252delinsAC (p.Ter84Tyr) n.2488_2489delinsAC n.410_411delinsAC n.284_285delinsAC c.166-6_166-5delinsAC (n.166-6_166-5delinsAC) | |
14 | g.90404451_90404452delinsAG | CA2579770635 | CALM1 | c.358_359delinsAG (p.Glu120Arg) c.250_251delinsAG (p.Glu84Arg) c.361_362delinsAG (p.Glu121Arg) c.230_231delinsAG (p.Ter77=) c.251_252delinsAG (p.Ter84=) n.2488_2489delinsAG n.410_411delinsAG n.284_285delinsAG c.166-6_166-5delinsAG (n.166-6_166-5delinsAG) | |
14 | g.90404451_90404452delinsAT | CA2579771085 | CALM1 | c.358_359delinsAT (p.Glu120Ile) c.250_251delinsAT (p.Glu84Ile) c.361_362delinsAT (p.Glu121Ile) c.230_231delinsAT (p.Ter77Tyr) c.251_252delinsAT (p.Ter84Tyr) n.2488_2489delinsAT n.410_411delinsAT n.284_285delinsAT c.166-6_166-5delinsAT (n.166-6_166-5delinsAT) | |
14 | g.90404451_90404452delinsCG | CA2579770594 | CALM1 | c.358_359delinsCG (p.Glu120Arg) c.250_251delinsCG (p.Glu84Arg) c.361_362delinsCG (p.Glu121Arg) c.230_231delinsCG (p.Ter77Ser) c.251_252delinsCG (p.Ter84Ser) n.2488_2489delinsCG n.410_411delinsCG n.284_285delinsCG c.166-6_166-5delinsCG (n.166-6_166-5delinsCG) | |
14 | g.90404451_90404452delinsCT | CA2579771302 | CALM1 | c.358_359delinsCT (p.Glu120Leu) c.250_251delinsCT (p.Glu84Leu) c.361_362delinsCT (p.Glu121Leu) c.230_231delinsCT (p.Ter77Ser) c.251_252delinsCT (p.Ter84Ser) n.2488_2489delinsCT n.410_411delinsCT n.284_285delinsCT c.166-6_166-5delinsCT (n.166-6_166-5delinsCT) | |
14 | g.90404451_90404452delinsTC | CA2579771733 | CALM1 | c.358_359delinsTC (p.Glu120Ser) c.250_251delinsTC (p.Glu84Ser) c.361_362delinsTC (p.Glu121Ser) c.230_231delinsTC (p.Ter77Phe) c.251_252delinsTC (p.Ter84Phe) n.2488_2489delinsTC n.410_411delinsTC n.284_285delinsTC c.166-6_166-5delinsTC (n.166-6_166-5delinsTC) | |
14 | g.90404451_90404452delinsTG | CA2579769733 | CALM1 | c.358_359delinsTG (p.Glu120Ter) c.250_251delinsTG (p.Glu84Ter) c.361_362delinsTG (p.Glu121Ter) c.230_231delinsTG (p.Ter77Leu) c.251_252delinsTG (p.Ter84Leu) n.2488_2489delinsTG n.410_411delinsTG n.284_285delinsTG c.166-6_166-5delinsTG (n.166-6_166-5delinsTG) | |
14 | g.90404451_90404452delinsTT | CA2579772327 | CALM1 | c.358_359delinsTT (p.Glu120Leu) c.250_251delinsTT (p.Glu84Leu) c.361_362delinsTT (p.Glu121Leu) c.230_231delinsTT (p.Ter77Phe) c.251_252delinsTT (p.Ter84Phe) n.2488_2489delinsTT n.410_411delinsTT n.284_285delinsTT c.166-6_166-5delinsTT (n.166-6_166-5delinsTT) | |
14 | g.90404451_90404453delinsAAG | CA2579769790 | CALM1 | c.358_360delinsAAG (p.Glu120Lys) c.250_252delinsAAG (p.Glu84Lys) c.361_363delinsAAG (p.Glu121Lys) c.230_232delinsAAG (n.[c.230_232delinsAAG;Ter77=]) c.251_*1delinsAAG (n.[c.251_*1delinsAAG;Ter84=]) n.2488_2490delinsAAG n.410_412delinsAAG n.284_286delinsAAG c.166-6_166-4delinsAAG (n.166-6_166-4delinsAAG) | |
14 | g.90404451_90404453delinsAAT | CA2579769892 | CALM1 | c.358_360delinsAAT (p.Glu120Asn) c.250_252delinsAAT (p.Glu84Asn) c.361_363delinsAAT (p.Glu121Asn) c.230_232delinsAAT (n.[c.230_232delinsAAT;Ter77=]) c.251_*1delinsAAT (n.[c.251_*1delinsAAT;Ter84=]) n.2488_2490delinsAAT n.410_412delinsAAT n.284_286delinsAAT c.166-6_166-4delinsAAT (n.166-6_166-4delinsAAT) | |
14 | g.90404451_90404453delinsACT | CA2579774258 | CALM1 | c.358_360delinsACT (p.Glu120Thr) c.250_252delinsACT (p.Glu84Thr) c.361_363delinsACT (p.Glu121Thr) c.230_232delinsACT (n.[c.230_232delinsACT;Ter77TyrextTer2]) c.251_*1delinsACT (n.[c.251_*1delinsACT;Ter84TyrextTer2]) n.2488_2490delinsACT n.410_412delinsACT n.284_286delinsACT c.166-6_166-4delinsACT (n.166-6_166-4delinsACT) | |
14 | g.90404451_90404453delinsAGG | CA2579774267 | CALM1 | c.358_360delinsAGG (p.Glu120Arg) c.250_252delinsAGG (p.Glu84Arg) c.361_363delinsAGG (p.Glu121Arg) c.230_232delinsAGG (n.[c.230_232delinsAGG;Ter77=]) c.251_*1delinsAGG (n.[c.251_*1delinsAGG;Ter84=]) n.2488_2490delinsAGG n.410_412delinsAGG n.284_286delinsAGG c.166-6_166-4delinsAGG (n.166-6_166-4delinsAGG) | |
14 | g.90404451_90404453delinsAGT | CA2579771892 | CALM1 | c.358_360delinsAGT (p.Glu120Ser) c.250_252delinsAGT (p.Glu84Ser) c.361_363delinsAGT (p.Glu121Ser) c.230_232delinsAGT (n.[c.230_232delinsAGT;Ter77=]) c.251_*1delinsAGT (n.[c.251_*1delinsAGT;Ter84=]) n.2488_2490delinsAGT n.410_412delinsAGT n.284_286delinsAGT c.166-6_166-4delinsAGT (n.166-6_166-4delinsAGT) | |
14 | g.90404451_90404453delinsATG | CA2579771207 | CALM1 | c.358_360delinsATG (p.Glu120Met) c.250_252delinsATG (p.Glu84Met) c.361_363delinsATG (p.Glu121Met) c.230_232delinsATG (n.[c.230_232delinsATG;Ter77TyrextTer5]) c.251_*1delinsATG (n.[c.251_*1delinsATG;Ter84TyrextTer5]) n.2488_2490delinsATG n.410_412delinsATG n.284_286delinsATG c.166-6_166-4delinsATG (n.166-6_166-4delinsATG) | |
14 | g.90404451_90404453delinsATT | CA2579769929 | CALM1 | c.358_360delinsATT (p.Glu120Ile) c.250_252delinsATT (p.Glu84Ile) c.361_363delinsATT (p.Glu121Ile) c.230_232delinsATT (n.[c.230_232delinsATT;Ter77TyrextTer2]) c.251_*1delinsATT (n.[c.251_*1delinsATT;Ter84TyrextTer2]) n.2488_2490delinsATT n.410_412delinsATT n.284_286delinsATT c.166-6_166-4delinsATT (n.166-6_166-4delinsATT) | |
14 | g.90404451_90404453delinsCAG | CA2579772841 | CALM1 | c.358_360delinsCAG (p.Glu120Gln) c.250_252delinsCAG (p.Glu84Gln) c.361_363delinsCAG (p.Glu121Gln) c.230_232delinsCAG (n.[c.230_232delinsCAG;Ter77SerextTer5]) c.251_*1delinsCAG (n.[c.251_*1delinsCAG;Ter84SerextTer5]) n.2488_2490delinsCAG n.410_412delinsCAG n.284_286delinsCAG c.166-6_166-4delinsCAG (n.166-6_166-4delinsCAG) | |
14 | g.90404451_90404453delinsCAT | CA2579774198 | CALM1 | c.358_360delinsCAT (p.Glu120His) c.250_252delinsCAT (p.Glu84His) c.361_363delinsCAT (p.Glu121His) c.230_232delinsCAT (n.[c.230_232delinsCAT;Ter77SerextTer2]) c.251_*1delinsCAT (n.[c.251_*1delinsCAT;Ter84SerextTer2]) n.2488_2490delinsCAT n.410_412delinsCAT n.284_286delinsCAT c.166-6_166-4delinsCAT (n.166-6_166-4delinsCAT) | |
14 | g.90404451_90404453delinsCCG | CA2579772345 | CALM1 | c.358_360delinsCCG (p.Glu120Pro) c.250_252delinsCCG (p.Glu84Pro) c.361_363delinsCCG (p.Glu121Pro) c.230_232delinsCCG (n.[c.230_232delinsCCG;Ter77SerextTer5]) c.251_*1delinsCCG (n.[c.251_*1delinsCCG;Ter84SerextTer5]) n.2488_2490delinsCCG n.410_412delinsCCG n.284_286delinsCCG c.166-6_166-4delinsCCG (n.166-6_166-4delinsCCG) | |
14 | g.90404451_90404453delinsCGG | CA2579771477 | CALM1 | c.358_360delinsCGG (p.Glu120Arg) c.250_252delinsCGG (p.Glu84Arg) c.361_363delinsCGG (p.Glu121Arg) c.230_232delinsCGG (n.[c.230_232delinsCGG;Ter77SerextTer5]) c.251_*1delinsCGG (n.[c.251_*1delinsCGG;Ter84SerextTer5]) n.2488_2490delinsCGG n.410_412delinsCGG n.284_286delinsCGG c.166-6_166-4delinsCGG (n.166-6_166-4delinsCGG) | |
14 | g.90404451_90404453delinsCGT | CA2579772167 | CALM1 | c.358_360delinsCGT (p.Glu120Arg) c.250_252delinsCGT (p.Glu84Arg) c.361_363delinsCGT (p.Glu121Arg) c.230_232delinsCGT (n.[c.230_232delinsCGT;Ter77SerextTer2]) c.251_*1delinsCGT (n.[c.251_*1delinsCGT;Ter84SerextTer2]) n.2488_2490delinsCGT n.410_412delinsCGT n.284_286delinsCGT c.166-6_166-4delinsCGT (n.166-6_166-4delinsCGT) | |
14 | g.90404451_90404453delinsCTG | CA2579774290 | CALM1 | c.358_360delinsCTG (p.Glu120Leu) c.250_252delinsCTG (p.Glu84Leu) c.361_363delinsCTG (p.Glu121Leu) c.230_232delinsCTG (n.[c.230_232delinsCTG;Ter77SerextTer5]) c.251_*1delinsCTG (n.[c.251_*1delinsCTG;Ter84SerextTer5]) n.2488_2490delinsCTG n.410_412delinsCTG n.284_286delinsCTG c.166-6_166-4delinsCTG (n.166-6_166-4delinsCTG) | |
14 | g.90404451_90404453delinsCTT | CA2579773825 | CALM1 | c.358_360delinsCTT (p.Glu120Leu) c.250_252delinsCTT (p.Glu84Leu) c.361_363delinsCTT (p.Glu121Leu) c.230_232delinsCTT (n.[c.230_232delinsCTT;Ter77SerextTer2]) c.251_*1delinsCTT (n.[c.251_*1delinsCTT;Ter84SerextTer2]) n.2488_2490delinsCTT n.410_412delinsCTT n.284_286delinsCTT c.166-6_166-4delinsCTT (n.166-6_166-4delinsCTT) | |
14 | g.90404451_90404453delinsTAG | CA2579772224 | CALM1 | c.358_360delinsTAG (p.Glu120Ter) c.250_252delinsTAG (p.Glu84Ter) c.361_363delinsTAG (p.Glu121Ter) c.230_232delinsTAG (n.[c.230_232delinsTAG;Ter77LeuextTer5]) c.251_*1delinsTAG (n.[c.251_*1delinsTAG;Ter84LeuextTer5]) n.2488_2490delinsTAG n.410_412delinsTAG n.284_286delinsTAG c.166-6_166-4delinsTAG (n.166-6_166-4delinsTAG) | |
14 | g.90404451_90404453delinsTAT | CA2579770469 | CALM1 | c.358_360delinsTAT (p.Glu120Tyr) c.250_252delinsTAT (p.Glu84Tyr) c.361_363delinsTAT (p.Glu121Tyr) c.230_232delinsTAT (n.[c.230_232delinsTAT;Ter77LeuextTer2]) c.251_*1delinsTAT (n.[c.251_*1delinsTAT;Ter84LeuextTer2]) n.2488_2490delinsTAT n.410_412delinsTAT n.284_286delinsTAT c.166-6_166-4delinsTAT (n.166-6_166-4delinsTAT) | |
14 | g.90404451_90404453delinsTCG | CA2579772772 | CALM1 | c.358_360delinsTCG (p.Glu120Ser) c.250_252delinsTCG (p.Glu84Ser) c.361_363delinsTCG (p.Glu121Ser) c.230_232delinsTCG (n.[c.230_232delinsTCG;Ter77PheextTer5]) c.251_*1delinsTCG (n.[c.251_*1delinsTCG;Ter84PheextTer5]) n.2488_2490delinsTCG n.410_412delinsTCG n.284_286delinsTCG c.166-6_166-4delinsTCG (n.166-6_166-4delinsTCG) | |
14 | g.90404451_90404453delinsTCT | CA2579772451 | CALM1 | c.358_360delinsTCT (p.Glu120Ser) c.250_252delinsTCT (p.Glu84Ser) c.361_363delinsTCT (p.Glu121Ser) c.230_232delinsTCT (n.[c.230_232delinsTCT;Ter77PheextTer2]) c.251_*1delinsTCT (n.[c.251_*1delinsTCT;Ter84PheextTer2]) n.2488_2490delinsTCT n.410_412delinsTCT n.284_286delinsTCT c.166-6_166-4delinsTCT (n.166-6_166-4delinsTCT) | |
14 | g.90404451_90404453delinsTGG | CA2579769893 | CALM1 | c.358_360delinsTGG (p.Glu120Trp) c.250_252delinsTGG (p.Glu84Trp) c.361_363delinsTGG (p.Glu121Trp) c.230_232delinsTGG (n.[c.230_232delinsTGG;Ter77LeuextTer5]) c.251_*1delinsTGG (n.[c.251_*1delinsTGG;Ter84LeuextTer5]) n.2488_2490delinsTGG n.410_412delinsTGG n.284_286delinsTGG c.166-6_166-4delinsTGG (n.166-6_166-4delinsTGG) | |
14 | g.90404451_90404453delinsTGT | CA2579770716 | CALM1 | c.358_360delinsTGT (p.Glu120Cys) c.250_252delinsTGT (p.Glu84Cys) c.361_363delinsTGT (p.Glu121Cys) c.230_232delinsTGT (n.[c.230_232delinsTGT;Ter77LeuextTer2]) c.251_*1delinsTGT (n.[c.251_*1delinsTGT;Ter84LeuextTer2]) n.2488_2490delinsTGT n.410_412delinsTGT n.284_286delinsTGT c.166-6_166-4delinsTGT (n.166-6_166-4delinsTGT) | |
14 | g.90404451_90404453delinsTTG | CA2579770165 | CALM1 | c.358_360delinsTTG (p.Glu120Leu) c.250_252delinsTTG (p.Glu84Leu) c.361_363delinsTTG (p.Glu121Leu) c.230_232delinsTTG (n.[c.230_232delinsTTG;Ter77PheextTer5]) c.251_*1delinsTTG (n.[c.251_*1delinsTTG;Ter84PheextTer5]) n.2488_2490delinsTTG n.410_412delinsTTG n.284_286delinsTTG c.166-6_166-4delinsTTG (n.166-6_166-4delinsTTG) | |
14 | g.90404451_90404453delinsTTT | CA2579772456 | CALM1 | c.358_360delinsTTT (p.Glu120Phe) c.250_252delinsTTT (p.Glu84Phe) c.361_363delinsTTT (p.Glu121Phe) c.230_232delinsTTT (n.[c.230_232delinsTTT;Ter77PheextTer2]) c.251_*1delinsTTT (n.[c.251_*1delinsTTT;Ter84PheextTer2]) n.2488_2490delinsTTT n.410_412delinsTTT n.284_286delinsTTT c.166-6_166-4delinsTTT (n.166-6_166-4delinsTTT) | |
14 | g.90404455_90404457del | CA7305800 | CALM1 | c.362_364del (p.Glu121del) c.254_256del (p.Glu85del) c.365_367del (p.Glu122del) c.234_236del (n.234_236del) c.*3_*5del (n.*3_*5del) n.2492_2494del n.414_416del n.288_290del c.166-2_166del | dbSNP ExAC gnomAD v2 |
14 | g.90404452A>C | CA390690266 | CALM1 | c.359A>C (p.Glu120Ala) c.251A>C (p.Glu84Ala) c.362A>C (p.Glu121Ala) c.231A>C (p.Ter77Cys) c.252A>C (p.Ter84Cys) n.2489A>C n.411A>C n.285A>C c.166-5A>C (n.166-5A>C) | |
14 | g.90404452A>G | CA390690267 | CALM1 | c.359A>G (p.Glu120Gly) c.251A>G (p.Glu84Gly) c.362A>G (p.Glu121Gly) c.231A>G (p.Ter77Trp) c.252A>G (p.Ter84Trp) n.2489A>G n.411A>G n.285A>G c.166-5A>G (n.166-5A>G) | |
14 | g.90404452A>T | CA390690265 | CALM1 | c.359A>T (p.Glu120Val) c.251A>T (p.Glu84Val) c.362A>T (p.Glu121Val) c.231A>T (p.Ter77Cys) c.252A>T (p.Ter84Cys) n.2489A>T n.411A>T n.285A>T c.166-5A>T (n.166-5A>T) | |
14 | g.90404452_90404453delinsCG | CA2579772793 | CALM1 | c.359_360delinsCG (p.Glu120Ala) c.251_252delinsCG (p.Glu84Ala) c.362_363delinsCG (p.Glu121Ala) c.231_232delinsCG (n.[c.231_232delinsCG;Ter77CysextTer5]) c.252_*1delinsCG (n.[c.252_*1delinsCG;Ter84CysextTer5]) n.2489_2490delinsCG n.411_412delinsCG n.285_286delinsCG c.166-5_166-4delinsCG (n.166-5_166-4delinsCG) | |
14 | g.90404452_90404453delinsCT | CA2579773199 | CALM1 | c.359_360delinsCT (p.Glu120Ala) c.251_252delinsCT (p.Glu84Ala) c.362_363delinsCT (p.Glu121Ala) c.231_232delinsCT (n.[c.231_232delinsCT;Ter77CysextTer2]) c.252_*1delinsCT (n.[c.252_*1delinsCT;Ter84CysextTer2]) n.2489_2490delinsCT n.411_412delinsCT n.285_286delinsCT c.166-5_166-4delinsCT (n.166-5_166-4delinsCT) | |
14 | g.90404452_90404453delinsGC | CA2579771690 | CALM1 | c.359_360delinsGC (p.Glu120Gly) c.251_252delinsGC (p.Glu84Gly) c.362_363delinsGC (p.Glu121Gly) c.231_232delinsGC (n.[c.231_232delinsGC;Ter77TrpextTer5]) c.252_*1delinsGC (n.[c.252_*1delinsGC;Ter84TrpextTer5]) n.2489_2490delinsGC n.411_412delinsGC n.285_286delinsGC c.166-5_166-4delinsGC (n.166-5_166-4delinsGC) | |
14 | g.90404452_90404453delinsGG | CA2579770967 | CALM1 | c.359_360delinsGG (p.Glu120Gly) c.251_252delinsGG (p.Glu84Gly) c.362_363delinsGG (p.Glu121Gly) c.231_232delinsGG (n.[c.231_232delinsGG;Ter77TrpextTer5]) c.252_*1delinsGG (n.[c.252_*1delinsGG;Ter84TrpextTer5]) n.2489_2490delinsGG n.411_412delinsGG n.285_286delinsGG c.166-5_166-4delinsGG (n.166-5_166-4delinsGG) | |
14 | g.90404452_90404453delinsGT | CA2579769909 | CALM1 | c.359_360delinsGT (p.Glu120Gly) c.251_252delinsGT (p.Glu84Gly) c.362_363delinsGT (p.Glu121Gly) c.231_232delinsGT (n.[c.231_232delinsGT;Ter77TrpextTer2]) c.252_*1delinsGT (n.[c.252_*1delinsGT;Ter84TrpextTer2]) n.2489_2490delinsGT n.411_412delinsGT n.285_286delinsGT c.166-5_166-4delinsGT (n.166-5_166-4delinsGT) | |
14 | g.90404452_90404453delinsTC | CA2579771789 | CALM1 | c.359_360delinsTC (p.Glu120Val) c.251_252delinsTC (p.Glu84Val) c.362_363delinsTC (p.Glu121Val) c.231_232delinsTC (n.[c.231_232delinsTC;Ter77CysextTer5]) c.252_*1delinsTC (n.[c.252_*1delinsTC;Ter84CysextTer5]) n.2489_2490delinsTC n.411_412delinsTC n.285_286delinsTC c.166-5_166-4delinsTC (n.166-5_166-4delinsTC) | |
14 | g.90404452_90404453delinsTG | CA2579771696 | CALM1 | c.359_360delinsTG (p.Glu120Val) c.251_252delinsTG (p.Glu84Val) c.362_363delinsTG (p.Glu121Val) c.231_232delinsTG (n.[c.231_232delinsTG;Ter77CysextTer5]) c.252_*1delinsTG (n.[c.252_*1delinsTG;Ter84CysextTer5]) n.2489_2490delinsTG n.411_412delinsTG n.285_286delinsTG c.166-5_166-4delinsTG (n.166-5_166-4delinsTG) | |
14 | g.90404452_90404453delinsTT | CA2579770573 | CALM1 | c.359_360delinsTT (p.Glu120Val) c.251_252delinsTT (p.Glu84Val) c.362_363delinsTT (p.Glu121Val) c.231_232delinsTT (n.[c.231_232delinsTT;Ter77CysextTer2]) c.252_*1delinsTT (n.[c.252_*1delinsTT;Ter84CysextTer2]) n.2489_2490delinsTT n.411_412delinsTT n.285_286delinsTT c.166-5_166-4delinsTT (n.166-5_166-4delinsTT) | |
14 | g.90404453A>C | CA390690269 | CALM1 | c.360A>C (p.Glu120Asp) c.252A>C (p.Glu84Asp) c.363A>C (p.Glu121Asp) c.232A>C (n.232A>C) c.*1A>C (n.*1A>C) n.2490A>C n.412A>C n.286A>C c.166-4A>C (n.166-4A>C) | |
14 | g.90404453A>G | CA487760273 | CALM1 | c.360A>G (p.Glu120=) c.252A>G (p.Glu84=) c.363A>G (p.Glu121=) c.232A>G (n.232A>G) c.*1A>G (n.*1A>G) n.2490A>G n.412A>G n.286A>G c.166-4A>G (n.166-4A>G) | |
14 | g.90404453A>T | CA390690268 | CALM1 | c.360A>T (p.Glu120Asp) c.252A>T (p.Glu84Asp) c.363A>T (p.Glu121Asp) c.232A>T (n.232A>T) c.*1A>T (n.*1A>T) n.2490A>T n.412A>T n.286A>T c.166-4A>T (n.166-4A>T) | |
14 | g.90404454G>A | CA390690271 | CALM1 | c.361G>A (p.Glu121Lys) c.253G>A (p.Glu85Lys) c.364G>A (p.Glu122Lys) c.233G>A (n.233G>A) c.*2G>A (n.*2G>A) n.2491G>A n.413G>A n.287G>A c.166-3G>A (n.166-3G>A) | |
14 | g.90404454G>C | CA390690270 | CALM1 | c.361G>C (p.Glu121Gln) c.253G>C (p.Glu85Gln) c.364G>C (p.Glu122Gln) c.233G>C (n.233G>C) c.*2G>C (n.*2G>C) n.2491G>C n.413G>C n.287G>C c.166-3G>C (n.166-3G>C) | |
14 | g.90404454G>T | CA390690272 | CALM1 | c.361G>T (p.Glu121Ter) c.253G>T (p.Glu85Ter) c.364G>T (p.Glu122Ter) c.233G>T (n.233G>T) c.*2G>T (n.*2G>T) n.2491G>T n.413G>T n.287G>T c.166-3G>T (n.166-3G>T) | |
14 | g.90404454_90404455delinsAC | CA2579773206 | CALM1 | c.361_362delinsAC (p.Glu121Thr) c.253_254delinsAC (p.Glu85Thr) c.364_365delinsAC (p.Glu122Thr) c.233_234delinsAC (n.233_234delinsAC) c.*2_*3delinsAC (n.*2_*3delinsAC) n.2491_2492delinsAC n.413_414delinsAC n.287_288delinsAC c.166-3_166-2delinsAC (n.166-3_166-2delinsAC) | |
14 | g.90404454_90404455delinsAG | CA2579772406 | CALM1 | c.361_362delinsAG (p.Glu121Arg) c.253_254delinsAG (p.Glu85Arg) c.364_365delinsAG (p.Glu122Arg) c.233_234delinsAG (n.233_234delinsAG) c.*2_*3delinsAG (n.*2_*3delinsAG) n.2491_2492delinsAG n.413_414delinsAG n.287_288delinsAG c.166-3_166-2delinsAG (n.166-3_166-2delinsAG) | |
14 | g.90404454_90404455delinsAT | CA2579772783 | CALM1 | c.361_362delinsAT (p.Glu121Ile) c.253_254delinsAT (p.Glu85Ile) c.364_365delinsAT (p.Glu122Ile) c.233_234delinsAT (n.233_234delinsAT) c.*2_*3delinsAT (n.*2_*3delinsAT) n.2491_2492delinsAT n.413_414delinsAT n.287_288delinsAT c.166-3_166-2delinsAT (n.166-3_166-2delinsAT) | |
14 | g.90404454_90404455delinsCC | CA2579771839 | CALM1 | c.361_362delinsCC (p.Glu121Pro) c.253_254delinsCC (p.Glu85Pro) c.364_365delinsCC (p.Glu122Pro) c.233_234delinsCC (n.233_234delinsCC) c.*2_*3delinsCC (n.*2_*3delinsCC) n.2491_2492delinsCC n.413_414delinsCC n.287_288delinsCC c.166-3_166-2delinsCC (n.166-3_166-2delinsCC) | |
14 | g.90404454_90404455delinsCG | CA2579773776 | CALM1 | c.361_362delinsCG (p.Glu121Arg) c.253_254delinsCG (p.Glu85Arg) c.364_365delinsCG (p.Glu122Arg) c.233_234delinsCG (n.233_234delinsCG) c.*2_*3delinsCG (n.*2_*3delinsCG) n.2491_2492delinsCG n.413_414delinsCG n.287_288delinsCG c.166-3_166-2delinsCG (n.166-3_166-2delinsCG) | |
14 | g.90404454_90404455delinsCT | CA2579772036 | CALM1 | c.361_362delinsCT (p.Glu121Leu) c.253_254delinsCT (p.Glu85Leu) c.364_365delinsCT (p.Glu122Leu) c.233_234delinsCT (n.233_234delinsCT) c.*2_*3delinsCT (n.*2_*3delinsCT) n.2491_2492delinsCT n.413_414delinsCT n.287_288delinsCT c.166-3_166-2delinsCT (n.166-3_166-2delinsCT) | |
14 | g.90404454_90404455delinsTC | CA2579772409 | CALM1 | c.361_362delinsTC (p.Glu121Ser) c.253_254delinsTC (p.Glu85Ser) c.364_365delinsTC (p.Glu122Ser) c.233_234delinsTC (n.233_234delinsTC) c.*2_*3delinsTC (n.*2_*3delinsTC) n.2491_2492delinsTC n.413_414delinsTC n.287_288delinsTC c.166-3_166-2delinsTC (n.166-3_166-2delinsTC) | |
14 | g.90404454_90404455delinsTG | CA2579773574 | CALM1 | c.361_362delinsTG (p.Glu121Ter) c.253_254delinsTG (p.Glu85Ter) c.364_365delinsTG (p.Glu122Ter) c.233_234delinsTG (n.233_234delinsTG) c.*2_*3delinsTG (n.*2_*3delinsTG) n.2491_2492delinsTG n.413_414delinsTG n.287_288delinsTG c.166-3_166-2delinsTG (n.166-3_166-2delinsTG) | |
14 | g.90404454_90404455delinsTT | CA2579772774 | CALM1 | c.361_362delinsTT (p.Glu121Leu) c.253_254delinsTT (p.Glu85Leu) c.364_365delinsTT (p.Glu122Leu) c.233_234delinsTT (n.233_234delinsTT) c.*2_*3delinsTT (n.*2_*3delinsTT) n.2491_2492delinsTT n.413_414delinsTT n.287_288delinsTT c.166-3_166-2delinsTT (n.166-3_166-2delinsTT) | |
14 | g.90404454_90404456delinsAAG | CA2579773857 | CALM1 | c.361_363delinsAAG (p.Glu121Lys) c.253_255delinsAAG (p.Glu85Lys) c.364_366delinsAAG (p.Glu122Lys) c.233_235delinsAAG (n.233_235delinsAAG) c.*2_*4delinsAAG (n.*2_*4delinsAAG) n.2491_2493delinsAAG n.413_415delinsAAG n.287_289delinsAAG c.166-3_166-1delinsAAG (n.166-3_166-1delinsAAG) | |
14 | g.90404454_90404456delinsAAT | CA2579773615 | CALM1 | c.361_363delinsAAT (p.Glu121Asn) c.253_255delinsAAT (p.Glu85Asn) c.364_366delinsAAT (p.Glu122Asn) c.233_235delinsAAT (n.233_235delinsAAT) c.*2_*4delinsAAT (n.*2_*4delinsAAT) n.2491_2493delinsAAT n.413_415delinsAAT n.287_289delinsAAT c.166-3_166-1delinsAAT (n.166-3_166-1delinsAAT) | |
14 | g.90404454_90404456delinsACG | CA2579770171 | CALM1 | c.361_363delinsACG (p.Glu121Thr) c.253_255delinsACG (p.Glu85Thr) c.364_366delinsACG (p.Glu122Thr) c.233_235delinsACG (n.233_235delinsACG) c.*2_*4delinsACG (n.*2_*4delinsACG) n.2491_2493delinsACG n.413_415delinsACG n.287_289delinsACG c.166-3_166-1delinsACG (n.166-3_166-1delinsACG) | |
14 | g.90404454_90404456delinsACT | CA2579769996 | CALM1 | c.361_363delinsACT (p.Glu121Thr) c.253_255delinsACT (p.Glu85Thr) c.364_366delinsACT (p.Glu122Thr) c.233_235delinsACT (n.233_235delinsACT) c.*2_*4delinsACT (n.*2_*4delinsACT) n.2491_2493delinsACT n.413_415delinsACT n.287_289delinsACT c.166-3_166-1delinsACT (n.166-3_166-1delinsACT) | |
14 | g.90404454_90404456delinsAGG | CA2579773841 | CALM1 | c.361_363delinsAGG (p.Glu121Arg) c.253_255delinsAGG (p.Glu85Arg) c.364_366delinsAGG (p.Glu122Arg) c.233_235delinsAGG (n.233_235delinsAGG) c.*2_*4delinsAGG (n.*2_*4delinsAGG) n.2491_2493delinsAGG n.413_415delinsAGG n.287_289delinsAGG c.166-3_166-1delinsAGG (n.166-3_166-1delinsAGG) | |
14 | g.90404454_90404456delinsAGT | CA2579769912 | CALM1 | c.361_363delinsAGT (p.Glu121Ser) c.253_255delinsAGT (p.Glu85Ser) c.364_366delinsAGT (p.Glu122Ser) c.233_235delinsAGT (n.233_235delinsAGT) c.*2_*4delinsAGT (n.*2_*4delinsAGT) n.2491_2493delinsAGT n.413_415delinsAGT n.287_289delinsAGT c.166-3_166-1delinsAGT (n.166-3_166-1delinsAGT) | |
14 | g.90404454_90404456delinsATG | CA2579774019 | CALM1 | c.361_363delinsATG (p.Glu121Met) c.253_255delinsATG (p.Glu85Met) c.364_366delinsATG (p.Glu122Met) c.233_235delinsATG (n.233_235delinsATG) c.*2_*4delinsATG (n.*2_*4delinsATG) n.2491_2493delinsATG n.413_415delinsATG n.287_289delinsATG c.166-3_166-1delinsATG (n.166-3_166-1delinsATG) | |
14 | g.90404454_90404456delinsATT | CA2579772597 | CALM1 | c.361_363delinsATT (p.Glu121Ile) c.253_255delinsATT (p.Glu85Ile) c.364_366delinsATT (p.Glu122Ile) c.233_235delinsATT (n.233_235delinsATT) c.*2_*4delinsATT (n.*2_*4delinsATT) n.2491_2493delinsATT n.413_415delinsATT n.287_289delinsATT c.166-3_166-1delinsATT (n.166-3_166-1delinsATT) | |
14 | g.90404454_90404456delinsCAG | CA2579772341 | CALM1 | c.361_363delinsCAG (p.Glu121Gln) c.253_255delinsCAG (p.Glu85Gln) c.364_366delinsCAG (p.Glu122Gln) c.233_235delinsCAG (n.233_235delinsCAG) c.*2_*4delinsCAG (n.*2_*4delinsCAG) n.2491_2493delinsCAG n.413_415delinsCAG n.287_289delinsCAG c.166-3_166-1delinsCAG (n.166-3_166-1delinsCAG) | |
14 | g.90404454_90404456delinsCAT | CA2579773561 | CALM1 | c.361_363delinsCAT (p.Glu121His) c.253_255delinsCAT (p.Glu85His) c.364_366delinsCAT (p.Glu122His) c.233_235delinsCAT (n.233_235delinsCAT) c.*2_*4delinsCAT (n.*2_*4delinsCAT) n.2491_2493delinsCAT n.413_415delinsCAT n.287_289delinsCAT c.166-3_166-1delinsCAT (n.166-3_166-1delinsCAT) | |
14 | g.90404454_90404456delinsCCG | CA2579770606 | CALM1 | c.361_363delinsCCG (p.Glu121Pro) c.253_255delinsCCG (p.Glu85Pro) c.364_366delinsCCG (p.Glu122Pro) c.233_235delinsCCG (n.233_235delinsCCG) c.*2_*4delinsCCG (n.*2_*4delinsCCG) n.2491_2493delinsCCG n.413_415delinsCCG n.287_289delinsCCG c.166-3_166-1delinsCCG (n.166-3_166-1delinsCCG) | |
14 | g.90404454_90404456delinsCCT | CA2579771343 | CALM1 | c.361_363delinsCCT (p.Glu121Pro) c.253_255delinsCCT (p.Glu85Pro) c.364_366delinsCCT (p.Glu122Pro) c.233_235delinsCCT (n.233_235delinsCCT) c.*2_*4delinsCCT (n.*2_*4delinsCCT) n.2491_2493delinsCCT n.413_415delinsCCT n.287_289delinsCCT c.166-3_166-1delinsCCT (n.166-3_166-1delinsCCT) | |
14 | g.90404454_90404456delinsCGG | CA2579770484 | CALM1 | c.361_363delinsCGG (p.Glu121Arg) c.253_255delinsCGG (p.Glu85Arg) c.364_366delinsCGG (p.Glu122Arg) c.233_235delinsCGG (n.233_235delinsCGG) c.*2_*4delinsCGG (n.*2_*4delinsCGG) n.2491_2493delinsCGG n.413_415delinsCGG n.287_289delinsCGG c.166-3_166-1delinsCGG (n.166-3_166-1delinsCGG) | |
14 | g.90404454_90404456delinsCGT | CA2579773139 | CALM1 | c.361_363delinsCGT (p.Glu121Arg) c.253_255delinsCGT (p.Glu85Arg) c.364_366delinsCGT (p.Glu122Arg) c.233_235delinsCGT (n.233_235delinsCGT) c.*2_*4delinsCGT (n.*2_*4delinsCGT) n.2491_2493delinsCGT n.413_415delinsCGT n.287_289delinsCGT c.166-3_166-1delinsCGT (n.166-3_166-1delinsCGT) | |
14 | g.90404454_90404456delinsCTG | CA2579771249 | CALM1 | c.361_363delinsCTG (p.Glu121Leu) c.253_255delinsCTG (p.Glu85Leu) c.364_366delinsCTG (p.Glu122Leu) c.233_235delinsCTG (n.233_235delinsCTG) c.*2_*4delinsCTG (n.*2_*4delinsCTG) n.2491_2493delinsCTG n.413_415delinsCTG n.287_289delinsCTG c.166-3_166-1delinsCTG (n.166-3_166-1delinsCTG) | |
14 | g.90404454_90404456delinsCTT | CA2579772117 | CALM1 | c.361_363delinsCTT (p.Glu121Leu) c.253_255delinsCTT (p.Glu85Leu) c.364_366delinsCTT (p.Glu122Leu) c.233_235delinsCTT (n.233_235delinsCTT) c.*2_*4delinsCTT (n.*2_*4delinsCTT) n.2491_2493delinsCTT n.413_415delinsCTT n.287_289delinsCTT c.166-3_166-1delinsCTT (n.166-3_166-1delinsCTT) | |
14 | g.90404454_90404456delinsTAG | CA2579771400 | CALM1 | c.361_363delinsTAG (p.Glu121Ter) c.253_255delinsTAG (p.Glu85Ter) c.364_366delinsTAG (p.Glu122Ter) c.233_235delinsTAG (n.233_235delinsTAG) c.*2_*4delinsTAG (n.*2_*4delinsTAG) n.2491_2493delinsTAG n.413_415delinsTAG n.287_289delinsTAG c.166-3_166-1delinsTAG (n.166-3_166-1delinsTAG) | |
14 | g.90404454_90404456delinsTAT | CA2579772526 | CALM1 | c.361_363delinsTAT (p.Glu121Tyr) c.253_255delinsTAT (p.Glu85Tyr) c.364_366delinsTAT (p.Glu122Tyr) c.233_235delinsTAT (n.233_235delinsTAT) c.*2_*4delinsTAT (n.*2_*4delinsTAT) n.2491_2493delinsTAT n.413_415delinsTAT n.287_289delinsTAT c.166-3_166-1delinsTAT (n.166-3_166-1delinsTAT) | |
14 | g.90404454_90404456delinsTCG | CA2579770163 | CALM1 | c.361_363delinsTCG (p.Glu121Ser) c.253_255delinsTCG (p.Glu85Ser) c.364_366delinsTCG (p.Glu122Ser) c.233_235delinsTCG (n.233_235delinsTCG) c.*2_*4delinsTCG (n.*2_*4delinsTCG) n.2491_2493delinsTCG n.413_415delinsTCG n.287_289delinsTCG c.166-3_166-1delinsTCG (n.166-3_166-1delinsTCG) | |
14 | g.90404454_90404456delinsTCT | CA2579771550 | CALM1 | c.361_363delinsTCT (p.Glu121Ser) c.253_255delinsTCT (p.Glu85Ser) c.364_366delinsTCT (p.Glu122Ser) c.233_235delinsTCT (n.233_235delinsTCT) c.*2_*4delinsTCT (n.*2_*4delinsTCT) n.2491_2493delinsTCT n.413_415delinsTCT n.287_289delinsTCT c.166-3_166-1delinsTCT (n.166-3_166-1delinsTCT) | |
14 | g.90404454_90404456delinsTGG | CA2579774143 | CALM1 | c.361_363delinsTGG (p.Glu121Trp) c.253_255delinsTGG (p.Glu85Trp) c.364_366delinsTGG (p.Glu122Trp) c.233_235delinsTGG (n.233_235delinsTGG) c.*2_*4delinsTGG (n.*2_*4delinsTGG) n.2491_2493delinsTGG n.413_415delinsTGG n.287_289delinsTGG c.166-3_166-1delinsTGG (n.166-3_166-1delinsTGG) | |
14 | g.90404454_90404456delinsTGT | CA2579771871 | CALM1 | c.361_363delinsTGT (p.Glu121Cys) c.253_255delinsTGT (p.Glu85Cys) c.364_366delinsTGT (p.Glu122Cys) c.233_235delinsTGT (n.233_235delinsTGT) c.*2_*4delinsTGT (n.*2_*4delinsTGT) n.2491_2493delinsTGT n.413_415delinsTGT n.287_289delinsTGT c.166-3_166-1delinsTGT (n.166-3_166-1delinsTGT) | |
14 | g.90404454_90404456delinsTTG | CA2579771504 | CALM1 | c.361_363delinsTTG (p.Glu121Leu) c.253_255delinsTTG (p.Glu85Leu) c.364_366delinsTTG (p.Glu122Leu) c.233_235delinsTTG (n.233_235delinsTTG) c.*2_*4delinsTTG (n.*2_*4delinsTTG) n.2491_2493delinsTTG n.413_415delinsTTG n.287_289delinsTTG c.166-3_166-1delinsTTG (n.166-3_166-1delinsTTG) | |
14 | g.90404454_90404456delinsTTT | CA2579772853 | CALM1 | c.361_363delinsTTT (p.Glu121Phe) c.253_255delinsTTT (p.Glu85Phe) c.364_366delinsTTT (p.Glu122Phe) c.233_235delinsTTT (n.233_235delinsTTT) c.*2_*4delinsTTT (n.*2_*4delinsTTT) n.2491_2493delinsTTT n.413_415delinsTTT n.287_289delinsTTT c.166-3_166-1delinsTTT (n.166-3_166-1delinsTTT) | |
14 | g.90404455A>C | CA390690273 | CALM1 | c.362A>C (p.Glu121Ala) c.254A>C (p.Glu85Ala) c.365A>C (p.Glu122Ala) c.234A>C (n.234A>C) c.*3A>C (n.*3A>C) n.2492A>C n.414A>C n.288A>C c.166-2A>C (n.166-2A>C) | |
14 | g.90404455A>G | CA390690274 | CALM1 | c.362A>G (p.Glu121Gly) c.254A>G (p.Glu85Gly) c.365A>G (p.Glu122Gly) c.234A>G (n.234A>G) c.*3A>G (n.*3A>G) n.2492A>G n.414A>G n.288A>G c.166-2A>G (n.166-2A>G) | |
14 | g.90404455A>T | CA390690275 | CALM1 | c.362A>T (p.Glu121Val) c.254A>T (p.Glu85Val) c.365A>T (p.Glu122Val) c.234A>T (n.234A>T) c.*3A>T (n.*3A>T) n.2492A>T n.414A>T n.288A>T c.166-2A>T (n.166-2A>T) | |
14 | g.90404455_90404456delinsCG | CA2579771566 | CALM1 | c.362_363delinsCG (p.Glu121Ala) c.254_255delinsCG (p.Glu85Ala) c.365_366delinsCG (p.Glu122Ala) c.234_235delinsCG (n.234_235delinsCG) c.*3_*4delinsCG (n.*3_*4delinsCG) n.2492_2493delinsCG n.414_415delinsCG n.288_289delinsCG c.166-2_166-1delinsCG (n.166-2_166-1delinsCG) | |
14 | g.90404455_90404456delinsCT | CA2579769787 | CALM1 | c.362_363delinsCT (p.Glu121Ala) c.254_255delinsCT (p.Glu85Ala) c.365_366delinsCT (p.Glu122Ala) c.234_235delinsCT (n.234_235delinsCT) c.*3_*4delinsCT (n.*3_*4delinsCT) n.2492_2493delinsCT n.414_415delinsCT n.288_289delinsCT c.166-2_166-1delinsCT (n.166-2_166-1delinsCT) | |
14 | g.90404455_90404456delinsGC | CA2579769867 | CALM1 | c.362_363delinsGC (p.Glu121Gly) c.254_255delinsGC (p.Glu85Gly) c.365_366delinsGC (p.Glu122Gly) c.234_235delinsGC (n.234_235delinsGC) c.*3_*4delinsGC (n.*3_*4delinsGC) n.2492_2493delinsGC n.414_415delinsGC n.288_289delinsGC c.166-2_166-1delinsGC (n.166-2_166-1delinsGC) | |
14 | g.90404455_90404456delinsGG | CA2579771935 | CALM1 | c.362_363delinsGG (p.Glu121Gly) c.254_255delinsGG (p.Glu85Gly) c.365_366delinsGG (p.Glu122Gly) c.234_235delinsGG (n.234_235delinsGG) c.*3_*4delinsGG (n.*3_*4delinsGG) n.2492_2493delinsGG n.414_415delinsGG n.288_289delinsGG c.166-2_166-1delinsGG (n.166-2_166-1delinsGG) | |
14 | g.90404455_90404456delinsGT | CA2579773144 | CALM1 | c.362_363delinsGT (p.Glu121Gly) c.254_255delinsGT (p.Glu85Gly) c.365_366delinsGT (p.Glu122Gly) c.234_235delinsGT (n.234_235delinsGT) c.*3_*4delinsGT (n.*3_*4delinsGT) n.2492_2493delinsGT n.414_415delinsGT n.288_289delinsGT c.166-2_166-1delinsGT (n.166-2_166-1delinsGT) | |
14 | g.90404455_90404456delinsTG | CA2579769807 | CALM1 | c.362_363delinsTG (p.Glu121Val) c.254_255delinsTG (p.Glu85Val) c.365_366delinsTG (p.Glu122Val) c.234_235delinsTG (n.234_235delinsTG) c.*3_*4delinsTG (n.*3_*4delinsTG) n.2492_2493delinsTG n.414_415delinsTG n.288_289delinsTG c.166-2_166-1delinsTG (n.166-2_166-1delinsTG) | |
14 | g.90404455_90404456delinsTT | CA2579772256 | CALM1 | c.362_363delinsTT (p.Glu121Val) c.254_255delinsTT (p.Glu85Val) c.365_366delinsTT (p.Glu122Val) c.234_235delinsTT (n.234_235delinsTT) c.*3_*4delinsTT (n.*3_*4delinsTT) n.2492_2493delinsTT n.414_415delinsTT n.288_289delinsTT c.166-2_166-1delinsTT (n.166-2_166-1delinsTT) | |
14 | g.90404456A>C | CA390690276 | CALM1 | c.363A>C (p.Glu121Asp) c.255A>C (p.Glu85Asp) c.366A>C (p.Glu122Asp) c.235A>C (n.235A>C) c.*4A>C (n.*4A>C) n.2493A>C n.415A>C n.289A>C c.166-1A>C (n.166-1A>C) | |
14 | g.90404456A>G | CA390690277 | CALM1 | c.363A>G (p.Glu121=) c.255A>G (p.Glu85=) c.366A>G (p.Glu122=) c.235A>G (n.235A>G) c.*4A>G (n.*4A>G) n.2493A>G n.415A>G n.289A>G c.166-1A>G (n.166-1A>G) | |
14 | g.90404456A>T | CA390690278 | CALM1 | c.363A>T (p.Glu121Asp) c.255A>T (p.Glu85Asp) c.366A>T (p.Glu122Asp) c.235A>T (n.235A>T) c.*4A>T (n.*4A>T) n.2493A>T n.415A>T n.289A>T c.166-1A>T (n.166-1A>T) | |
14 | g.90404457G>A | CA390690279 | CALM1 | c.364G>A (p.Val122Ile) c.256G>A (p.Val86Ile) c.367G>A (p.Val123Ile) c.236G>A (n.236G>A) c.*5G>A (n.*5G>A) n.2494G>A n.416G>A n.290G>A c.166G>A (p.Val56Ile) | |
14 | g.90404457G>C | CA390690280 | CALM1 | c.364G>C (p.Val122Leu) c.256G>C (p.Val86Leu) c.367G>C (p.Val123Leu) c.236G>C (n.236G>C) c.*5G>C (n.*5G>C) n.2494G>C n.416G>C n.290G>C c.166G>C (p.Val56Leu) | |
14 | g.90404457G>T | CA390690281 | CALM1 | c.364G>T (p.Val122Leu) c.256G>T (p.Val86Leu) c.367G>T (p.Val123Leu) c.236G>T (n.236G>T) c.*5G>T (n.*5G>T) n.2494G>T n.416G>T n.290G>T c.166G>T (p.Val56Leu) | |
14 | g.90404457_90404458delinsAA | CA2579771384 | CALM1 | c.364_365delinsAA (p.Val122Lys) c.256_257delinsAA (p.Val86Lys) c.367_368delinsAA (p.Val123Lys) c.236_237delinsAA (n.236_237delinsAA) c.*5_*6delinsAA (n.*5_*6delinsAA) n.2494_2495delinsAA n.416_417delinsAA n.290_291delinsAA c.166_167delinsAA (p.Val56Lys) | |
14 | g.90404457_90404458delinsAC | CA2579772830 | CALM1 | c.364_365delinsAC (p.Val122Thr) c.256_257delinsAC (p.Val86Thr) c.367_368delinsAC (p.Val123Thr) c.236_237delinsAC (n.236_237delinsAC) c.*5_*6delinsAC (n.*5_*6delinsAC) n.2494_2495delinsAC n.416_417delinsAC n.290_291delinsAC c.166_167delinsAC (p.Val56Thr) | |
14 | g.90404457_90404458delinsAG | CA2579770767 | CALM1 | c.364_365delinsAG (p.Val122Arg) c.256_257delinsAG (p.Val86Arg) c.367_368delinsAG (p.Val123Arg) c.236_237delinsAG (n.236_237delinsAG) c.*5_*6delinsAG (n.*5_*6delinsAG) n.2494_2495delinsAG n.416_417delinsAG n.290_291delinsAG c.166_167delinsAG (p.Val56Arg) | |
14 | g.90404457_90404458delinsCA | CA2579769930 | CALM1 | c.364_365delinsCA (p.Val122Gln) c.256_257delinsCA (p.Val86Gln) c.367_368delinsCA (p.Val123Gln) c.236_237delinsCA (n.236_237delinsCA) c.*5_*6delinsCA (n.*5_*6delinsCA) n.2494_2495delinsCA n.416_417delinsCA n.290_291delinsCA c.166_167delinsCA (p.Val56Gln) | |
14 | g.90404457_90404458delinsCC | CA2579771393 | CALM1 | c.364_365delinsCC (p.Val122Pro) c.256_257delinsCC (p.Val86Pro) c.367_368delinsCC (p.Val123Pro) c.236_237delinsCC (n.236_237delinsCC) c.*5_*6delinsCC (n.*5_*6delinsCC) n.2494_2495delinsCC n.416_417delinsCC n.290_291delinsCC c.166_167delinsCC (p.Val56Pro) | |
14 | g.90404457_90404458delinsCG | CA2579770015 | CALM1 | c.364_365delinsCG (p.Val122Arg) c.256_257delinsCG (p.Val86Arg) c.367_368delinsCG (p.Val123Arg) c.236_237delinsCG (n.236_237delinsCG) c.*5_*6delinsCG (n.*5_*6delinsCG) n.2494_2495delinsCG n.416_417delinsCG n.290_291delinsCG c.166_167delinsCG (p.Val56Arg) | |
14 | g.90404457_90404458delinsTC | CA2579770311 | CALM1 | c.364_365delinsTC (p.Val122Ser) c.256_257delinsTC (p.Val86Ser) c.367_368delinsTC (p.Val123Ser) c.236_237delinsTC (n.236_237delinsTC) c.*5_*6delinsTC (n.*5_*6delinsTC) n.2494_2495delinsTC n.416_417delinsTC n.290_291delinsTC c.166_167delinsTC (p.Val56Ser) | |
14 | g.90404457_90404458delinsTG | CA2579772690 | CALM1 | c.364_365delinsTG (p.Val122Ter) c.256_257delinsTG (p.Val86Ter) c.367_368delinsTG (p.Val123Ter) c.236_237delinsTG (n.236_237delinsTG) c.*5_*6delinsTG (n.*5_*6delinsTG) n.2494_2495delinsTG n.416_417delinsTG n.290_291delinsTG c.166_167delinsTG (p.Val56Ter) | |
14 | g.90404457_90404459delinsAAG | CA2579772829 | CALM1 | c.364_366delinsAAG (p.Val122Lys) c.256_258delinsAAG (p.Val86Lys) c.367_369delinsAAG (p.Val123Lys) c.236_238delinsAAG (n.236_238delinsAAG) c.*5_*7delinsAAG (n.*5_*7delinsAAG) n.2494_2496delinsAAG n.416_418delinsAAG n.290_292delinsAAG c.166_168delinsAAG (p.Val56Lys) | |
14 | g.90404457_90404459delinsAAT | CA2579771544 | CALM1 | c.364_366delinsAAT (p.Val122Asn) c.256_258delinsAAT (p.Val86Asn) c.367_369delinsAAT (p.Val123Asn) c.236_238delinsAAT (n.236_238delinsAAT) c.*5_*7delinsAAT (n.*5_*7delinsAAT) n.2494_2496delinsAAT n.416_418delinsAAT n.290_292delinsAAT c.166_168delinsAAT (p.Val56Asn) | |
14 | g.90404457_90404459delinsACG | CA2579769783 | CALM1 | c.364_366delinsACG (p.Val122Thr) c.256_258delinsACG (p.Val86Thr) c.367_369delinsACG (p.Val123Thr) c.236_238delinsACG (n.236_238delinsACG) c.*5_*7delinsACG (n.*5_*7delinsACG) n.2494_2496delinsACG n.416_418delinsACG n.290_292delinsACG c.166_168delinsACG (p.Val56Thr) | |
14 | g.90404457_90404459delinsACT | CA2579769820 | CALM1 | c.364_366delinsACT (p.Val122Thr) c.256_258delinsACT (p.Val86Thr) c.367_369delinsACT (p.Val123Thr) c.236_238delinsACT (n.236_238delinsACT) c.*5_*7delinsACT (n.*5_*7delinsACT) n.2494_2496delinsACT n.416_418delinsACT n.290_292delinsACT c.166_168delinsACT (p.Val56Thr) | |
14 | g.90404457_90404459delinsAGG | CA2579772301 | CALM1 | c.364_366delinsAGG (p.Val122Arg) c.256_258delinsAGG (p.Val86Arg) c.367_369delinsAGG (p.Val123Arg) c.236_238delinsAGG (n.236_238delinsAGG) c.*5_*7delinsAGG (n.*5_*7delinsAGG) n.2494_2496delinsAGG n.416_418delinsAGG n.290_292delinsAGG c.166_168delinsAGG (p.Val56Arg) | |
14 | g.90404457_90404459delinsATG | CA2579774046 | CALM1 | c.364_366delinsATG (p.Val122Met) c.256_258delinsATG (p.Val86Met) c.367_369delinsATG (p.Val123Met) c.236_238delinsATG (n.236_238delinsATG) c.*5_*7delinsATG (n.*5_*7delinsATG) n.2494_2496delinsATG n.416_418delinsATG n.290_292delinsATG c.166_168delinsATG (p.Val56Met) | |
14 | g.90404457_90404459delinsATT | CA2579771206 | CALM1 | c.364_366delinsATT (p.Val122Ile) c.256_258delinsATT (p.Val86Ile) c.367_369delinsATT (p.Val123Ile) c.236_238delinsATT (n.236_238delinsATT) c.*5_*7delinsATT (n.*5_*7delinsATT) n.2494_2496delinsATT n.416_418delinsATT n.290_292delinsATT c.166_168delinsATT (p.Val56Ile) | |
14 | g.90404457_90404459delinsCAG | CA2579772487 | CALM1 | c.364_366delinsCAG (p.Val122Gln) c.256_258delinsCAG (p.Val86Gln) c.367_369delinsCAG (p.Val123Gln) c.236_238delinsCAG (n.236_238delinsCAG) c.*5_*7delinsCAG (n.*5_*7delinsCAG) n.2494_2496delinsCAG n.416_418delinsCAG n.290_292delinsCAG c.166_168delinsCAG (p.Val56Gln) | |
14 | g.90404457_90404459delinsCAT | CA2579771386 | CALM1 | c.364_366delinsCAT (p.Val122His) c.256_258delinsCAT (p.Val86His) c.367_369delinsCAT (p.Val123His) c.236_238delinsCAT (n.236_238delinsCAT) c.*5_*7delinsCAT (n.*5_*7delinsCAT) n.2494_2496delinsCAT n.416_418delinsCAT n.290_292delinsCAT c.166_168delinsCAT (p.Val56His) | |
14 | g.90404457_90404459delinsCCG | CA2579769775 | CALM1 | c.364_366delinsCCG (p.Val122Pro) c.256_258delinsCCG (p.Val86Pro) c.367_369delinsCCG (p.Val123Pro) c.236_238delinsCCG (n.236_238delinsCCG) c.*5_*7delinsCCG (n.*5_*7delinsCCG) n.2494_2496delinsCCG n.416_418delinsCCG n.290_292delinsCCG c.166_168delinsCCG (p.Val56Pro) | |
14 | g.90404457_90404459delinsCCT | CA2579770432 | CALM1 | c.364_366delinsCCT (p.Val122Pro) c.256_258delinsCCT (p.Val86Pro) c.367_369delinsCCT (p.Val123Pro) c.236_238delinsCCT (n.236_238delinsCCT) c.*5_*7delinsCCT (n.*5_*7delinsCCT) n.2494_2496delinsCCT n.416_418delinsCCT n.290_292delinsCCT c.166_168delinsCCT (p.Val56Pro) | |
14 | g.90404457_90404459delinsCGG | CA2579773507 | CALM1 | c.364_366delinsCGG (p.Val122Arg) c.256_258delinsCGG (p.Val86Arg) c.367_369delinsCGG (p.Val123Arg) c.236_238delinsCGG (n.236_238delinsCGG) c.*5_*7delinsCGG (n.*5_*7delinsCGG) n.2494_2496delinsCGG n.416_418delinsCGG n.290_292delinsCGG c.166_168delinsCGG (p.Val56Arg) | |
14 | g.90404457_90404459delinsCTG | CA2579773639 | CALM1 | c.364_366delinsCTG (p.Val122Leu) c.256_258delinsCTG (p.Val86Leu) c.367_369delinsCTG (p.Val123Leu) c.236_238delinsCTG (n.236_238delinsCTG) c.*5_*7delinsCTG (n.*5_*7delinsCTG) n.2494_2496delinsCTG n.416_418delinsCTG n.290_292delinsCTG c.166_168delinsCTG (p.Val56Leu) | |
14 | g.90404457_90404459delinsCTT | CA2579769780 | CALM1 | c.364_366delinsCTT (p.Val122Leu) c.256_258delinsCTT (p.Val86Leu) c.367_369delinsCTT (p.Val123Leu) c.236_238delinsCTT (n.236_238delinsCTT) c.*5_*7delinsCTT (n.*5_*7delinsCTT) n.2494_2496delinsCTT n.416_418delinsCTT n.290_292delinsCTT c.166_168delinsCTT (p.Val56Leu) | |
14 | g.90404457_90404459delinsTCG | CA2579773780 | CALM1 | c.364_366delinsTCG (p.Val122Ser) c.256_258delinsTCG (p.Val86Ser) c.367_369delinsTCG (p.Val123Ser) c.236_238delinsTCG (n.236_238delinsTCG) c.*5_*7delinsTCG (n.*5_*7delinsTCG) n.2494_2496delinsTCG n.416_418delinsTCG n.290_292delinsTCG c.166_168delinsTCG (p.Val56Ser) | |
14 | g.90404457_90404459delinsTCT | CA2579771055 | CALM1 | c.364_366delinsTCT (p.Val122Ser) c.256_258delinsTCT (p.Val86Ser) c.367_369delinsTCT (p.Val123Ser) c.236_238delinsTCT (n.236_238delinsTCT) c.*5_*7delinsTCT (n.*5_*7delinsTCT) n.2494_2496delinsTCT n.416_418delinsTCT n.290_292delinsTCT c.166_168delinsTCT (p.Val56Ser) | |
14 | g.90404457_90404459delinsTGG | CA2579772048 | CALM1 | c.364_366delinsTGG (p.Val122Trp) c.256_258delinsTGG (p.Val86Trp) c.367_369delinsTGG (p.Val123Trp) c.236_238delinsTGG (n.236_238delinsTGG) c.*5_*7delinsTGG (n.*5_*7delinsTGG) n.2494_2496delinsTGG n.416_418delinsTGG n.290_292delinsTGG c.166_168delinsTGG (p.Val56Trp) | |
14 | g.90404457_90404459delinsTTG | CA2579770426 | CALM1 | c.364_366delinsTTG (p.Val122Leu) c.256_258delinsTTG (p.Val86Leu) c.367_369delinsTTG (p.Val123Leu) c.236_238delinsTTG (n.236_238delinsTTG) c.*5_*7delinsTTG (n.*5_*7delinsTTG) n.2494_2496delinsTTG n.416_418delinsTTG n.290_292delinsTTG c.166_168delinsTTG (p.Val56Leu) | |
14 | g.90404457_90404459delinsTTT | CA2579773478 | CALM1 | c.364_366delinsTTT (p.Val122Phe) c.256_258delinsTTT (p.Val86Phe) c.367_369delinsTTT (p.Val123Phe) c.236_238delinsTTT (n.236_238delinsTTT) c.*5_*7delinsTTT (n.*5_*7delinsTTT) n.2494_2496delinsTTT n.416_418delinsTTT n.290_292delinsTTT c.166_168delinsTTT (p.Val56Phe) | |
14 | g.90404458T>A | CA390690282 | CALM1 | c.365T>A (p.Val122Glu) c.257T>A (p.Val86Glu) c.368T>A (p.Val123Glu) c.237T>A (n.237T>A) c.*6T>A (n.*6T>A) n.2495T>A n.417T>A n.291T>A c.167T>A (p.Val56Glu) | |
14 | g.90404458T>C | CA390690283 | CALM1 | c.365T>C (p.Val122Ala) c.257T>C (p.Val86Ala) c.368T>C (p.Val123Ala) c.237T>C (n.237T>C) c.*6T>C (n.*6T>C) n.2495T>C n.417T>C n.291T>C c.167T>C (p.Val56Ala) | |
14 | g.90404458T>G | CA390690284 | CALM1 | c.365T>G (p.Val122Gly) c.257T>G (p.Val86Gly) c.368T>G (p.Val123Gly) c.237T>G (n.237T>G) c.*6T>G (n.*6T>G) n.2495T>G n.417T>G n.291T>G c.167T>G (p.Val56Gly) | |
14 | g.90404458_90404459delinsAC | CA2579770063 | CALM1 | c.365_366delinsAC (p.Val122Asp) c.257_258delinsAC (p.Val86Asp) c.368_369delinsAC (p.Val123Asp) c.237_238delinsAC (n.237_238delinsAC) c.*6_*7delinsAC (n.*6_*7delinsAC) n.2495_2496delinsAC n.417_418delinsAC n.291_292delinsAC c.167_168delinsAC (p.Val56Asp) | |
14 | g.90404458_90404459delinsAG | CA2579772948 | CALM1 | c.365_366delinsAG (p.Val122Glu) c.257_258delinsAG (p.Val86Glu) c.368_369delinsAG (p.Val123Glu) c.237_238delinsAG (n.237_238delinsAG) c.*6_*7delinsAG (n.*6_*7delinsAG) n.2495_2496delinsAG n.417_418delinsAG n.291_292delinsAG c.167_168delinsAG (p.Val56Glu) | |
14 | g.90404458_90404459delinsAT | CA2579770057 | CALM1 | c.365_366delinsAT (p.Val122Asp) c.257_258delinsAT (p.Val86Asp) c.368_369delinsAT (p.Val123Asp) c.237_238delinsAT (n.237_238delinsAT) c.*6_*7delinsAT (n.*6_*7delinsAT) n.2495_2496delinsAT n.417_418delinsAT n.291_292delinsAT c.167_168delinsAT (p.Val56Asp) | |
14 | g.90404458_90404459delinsCC | CA2579772102 | CALM1 | c.365_366delinsCC (p.Val122Ala) c.257_258delinsCC (p.Val86Ala) c.368_369delinsCC (p.Val123Ala) c.237_238delinsCC (n.237_238delinsCC) c.*6_*7delinsCC (n.*6_*7delinsCC) n.2495_2496delinsCC n.417_418delinsCC n.291_292delinsCC c.167_168delinsCC (p.Val56Ala) | |
14 | g.90404458_90404459delinsCG | CA2579769988 | CALM1 | c.365_366delinsCG (p.Val122Ala) c.257_258delinsCG (p.Val86Ala) c.368_369delinsCG (p.Val123Ala) c.237_238delinsCG (n.237_238delinsCG) c.*6_*7delinsCG (n.*6_*7delinsCG) n.2495_2496delinsCG n.417_418delinsCG n.291_292delinsCG c.167_168delinsCG (p.Val56Ala) | |
14 | g.90404458_90404459delinsCT | CA2579769951 | CALM1 | c.365_366delinsCT (p.Val122Ala) c.257_258delinsCT (p.Val86Ala) c.368_369delinsCT (p.Val123Ala) c.237_238delinsCT (n.237_238delinsCT) c.*6_*7delinsCT (n.*6_*7delinsCT) n.2495_2496delinsCT n.417_418delinsCT n.291_292delinsCT c.167_168delinsCT (p.Val56Ala) | |
14 | g.90404458_90404459delinsGG | CA2579771441 | CALM1 | c.365_366delinsGG (p.Val122Gly) c.257_258delinsGG (p.Val86Gly) c.368_369delinsGG (p.Val123Gly) c.237_238delinsGG (n.237_238delinsGG) c.*6_*7delinsGG (n.*6_*7delinsGG) n.2495_2496delinsGG n.417_418delinsGG n.291_292delinsGG c.167_168delinsGG (p.Val56Gly) | |
14 | g.90404458_90404459delinsGT | CA2579773796 | CALM1 | c.365_366delinsGT (p.Val122Gly) c.257_258delinsGT (p.Val86Gly) c.368_369delinsGT (p.Val123Gly) c.237_238delinsGT (n.237_238delinsGT) c.*6_*7delinsGT (n.*6_*7delinsGT) n.2495_2496delinsGT n.417_418delinsGT n.291_292delinsGT c.167_168delinsGT (p.Val56Gly) | |
14 | g.90404459A= | CA2154484139 | CALM1 | c.366A= (p.Val122=) c.258A= (p.Val86=) c.369A= (p.Val123=) c.238A= (n.238A=) c.*7A= (n.*7A=) n.2496A= n.418A= n.292A= c.168A= (p.Val56=) | |
14 | g.90404459A>C | CA487760294 | CALM1 | c.366A>C (p.Val122=) c.258A>C (p.Val86=) c.369A>C (p.Val123=) c.238A>C (n.238A>C) c.*7A>C (n.*7A>C) n.2496A>C n.418A>C n.292A>C c.168A>C (p.Val56=) | |
14 | g.90404459A>G | CA7305801 | CALM1 | c.366A>G (p.Val122=) c.258A>G (p.Val86=) c.369A>G (p.Val123=) c.238A>G (n.238A>G) c.*7A>G (n.*7A>G) n.2496A>G n.418A>G n.292A>G c.168A>G (p.Val56=) | dbSNP ExAC gnomAD v2 |
14 | g.90404459A>T | CA487760297 | CALM1 | c.366A>T (p.Val122=) c.258A>T (p.Val86=) c.369A>T (p.Val123=) c.238A>T (n.238A>T) c.*7A>T (n.*7A>T) n.2496A>T n.418A>T n.292A>T c.168A>T (p.Val56=) | |
14 | g.90404460G>A | CA390690287 | CALM1 | c.367G>A (p.Asp123Asn) c.259G>A (p.Asp87Asn) c.370G>A (p.Asp124Asn) c.239G>A (n.239G>A) c.*8G>A (n.*8G>A) n.2497G>A n.419G>A n.293G>A c.169G>A (p.Asp57Asn) | |
14 | g.90404460G>C | CA390690286 | CALM1 | c.367G>C (p.Asp123His) c.259G>C (p.Asp87His) c.370G>C (p.Asp124His) c.239G>C (n.239G>C) c.*8G>C (n.*8G>C) n.2497G>C n.419G>C n.293G>C c.169G>C (p.Asp57His) | |
14 | g.90404460G>T | CA390690285 | CALM1 | c.367G>T (p.Asp123Tyr) c.259G>T (p.Asp87Tyr) c.370G>T (p.Asp124Tyr) c.239G>T (n.239G>T) c.*8G>T (n.*8G>T) n.2497G>T n.419G>T n.293G>T c.169G>T (p.Asp57Tyr) | |
14 | g.90404460_90404461delinsAC | CA2579771379 | CALM1 | c.367_368delinsAC (p.Asp123Thr) c.259_260delinsAC (p.Asp87Thr) c.370_371delinsAC (p.Asp124Thr) c.239_240delinsAC (n.239_240delinsAC) c.*8_*9delinsAC (n.*8_*9delinsAC) n.2497_2498delinsAC n.419_420delinsAC n.293_294delinsAC c.169_170delinsAC (p.Asp57Thr) | |
14 | g.90404460_90404461delinsAG | CA2579771923 | CALM1 | c.367_368delinsAG (p.Asp123Ser) c.259_260delinsAG (p.Asp87Ser) c.370_371delinsAG (p.Asp124Ser) c.239_240delinsAG (n.239_240delinsAG) c.*8_*9delinsAG (n.*8_*9delinsAG) n.2497_2498delinsAG n.419_420delinsAG n.293_294delinsAG c.169_170delinsAG (p.Asp57Ser) | |
14 | g.90404460_90404461delinsAT | CA2579773363 | CALM1 | c.367_368delinsAT (p.Asp123Ile) c.259_260delinsAT (p.Asp87Ile) c.370_371delinsAT (p.Asp124Ile) c.239_240delinsAT (n.239_240delinsAT) c.*8_*9delinsAT (n.*8_*9delinsAT) n.2497_2498delinsAT n.419_420delinsAT n.293_294delinsAT c.169_170delinsAT (p.Asp57Ile) | |
14 | g.90404460_90404461delinsCC | CA2579772200 | CALM1 | c.367_368delinsCC (p.Asp123Pro) c.259_260delinsCC (p.Asp87Pro) c.370_371delinsCC (p.Asp124Pro) c.239_240delinsCC (n.239_240delinsCC) c.*8_*9delinsCC (n.*8_*9delinsCC) n.2497_2498delinsCC n.419_420delinsCC n.293_294delinsCC c.169_170delinsCC (p.Asp57Pro) | |
14 | g.90404460_90404461delinsCG | CA2579773898 | CALM1 | c.367_368delinsCG (p.Asp123Arg) c.259_260delinsCG (p.Asp87Arg) c.370_371delinsCG (p.Asp124Arg) c.239_240delinsCG (n.239_240delinsCG) c.*8_*9delinsCG (n.*8_*9delinsCG) n.2497_2498delinsCG n.419_420delinsCG n.293_294delinsCG c.169_170delinsCG (p.Asp57Arg) | |
14 | g.90404460_90404461delinsCT | CA2579773339 | CALM1 | c.367_368delinsCT (p.Asp123Leu) c.259_260delinsCT (p.Asp87Leu) c.370_371delinsCT (p.Asp124Leu) c.239_240delinsCT (n.239_240delinsCT) c.*8_*9delinsCT (n.*8_*9delinsCT) n.2497_2498delinsCT n.419_420delinsCT n.293_294delinsCT c.169_170delinsCT (p.Asp57Leu) | |
14 | g.90404460_90404461delinsTC | CA2579772028 | CALM1 | c.367_368delinsTC (p.Asp123Ser) c.259_260delinsTC (p.Asp87Ser) c.370_371delinsTC (p.Asp124Ser) c.239_240delinsTC (n.239_240delinsTC) c.*8_*9delinsTC (n.*8_*9delinsTC) n.2497_2498delinsTC n.419_420delinsTC n.293_294delinsTC c.169_170delinsTC (p.Asp57Ser) | |
14 | g.90404460_90404461delinsTG | CA2579772950 | CALM1 | c.367_368delinsTG (p.Asp123Cys) c.259_260delinsTG (p.Asp87Cys) c.370_371delinsTG (p.Asp124Cys) c.239_240delinsTG (n.239_240delinsTG) c.*8_*9delinsTG (n.*8_*9delinsTG) n.2497_2498delinsTG n.419_420delinsTG n.293_294delinsTG c.169_170delinsTG (p.Asp57Cys) | |
14 | g.90404460_90404461delinsTT | CA2579772677 | CALM1 | c.367_368delinsTT (p.Asp123Phe) c.259_260delinsTT (p.Asp87Phe) c.370_371delinsTT (p.Asp124Phe) c.239_240delinsTT (n.239_240delinsTT) c.*8_*9delinsTT (n.*8_*9delinsTT) n.2497_2498delinsTT n.419_420delinsTT n.293_294delinsTT c.169_170delinsTT (p.Asp57Phe) | |
14 | g.90404460_90404462delinsAAA | CA2579770462 | CALM1 | c.367_369delinsAAA (p.Asp123Lys) c.259_261delinsAAA (p.Asp87Lys) c.370_372delinsAAA (p.Asp124Lys) c.239_241delinsAAA (n.239_241delinsAAA) c.*8_*10delinsAAA (n.*8_*10delinsAAA) n.2497_2499delinsAAA n.419_421delinsAAA n.293_295delinsAAA c.169_171delinsAAA (p.Asp57Lys) | |
14 | g.90404460_90404462delinsAAC | CA2579773331 | CALM1 | c.367_369delinsAAC (p.Asp123Asn) c.259_261delinsAAC (p.Asp87Asn) c.370_372delinsAAC (p.Asp124Asn) c.239_241delinsAAC (n.239_241delinsAAC) c.*8_*10delinsAAC (n.*8_*10delinsAAC) n.2497_2499delinsAAC n.419_421delinsAAC n.293_295delinsAAC c.169_171delinsAAC (p.Asp57Asn) | |
14 | g.90404460_90404462delinsAAG | CA2579772588 | CALM1 | c.367_369delinsAAG (p.Asp123Lys) c.259_261delinsAAG (p.Asp87Lys) c.370_372delinsAAG (p.Asp124Lys) c.239_241delinsAAG (n.239_241delinsAAG) c.*8_*10delinsAAG (n.*8_*10delinsAAG) n.2497_2499delinsAAG n.419_421delinsAAG n.293_295delinsAAG c.169_171delinsAAG (p.Asp57Lys) | |
14 | g.90404460_90404462delinsACG | CA2579770093 | CALM1 | c.367_369delinsACG (p.Asp123Thr) c.259_261delinsACG (p.Asp87Thr) c.370_372delinsACG (p.Asp124Thr) c.239_241delinsACG (n.239_241delinsACG) c.*8_*10delinsACG (n.*8_*10delinsACG) n.2497_2499delinsACG n.419_421delinsACG n.293_295delinsACG c.169_171delinsACG (p.Asp57Thr) | |
14 | g.90404460_90404462delinsAGC | CA2579770509 | CALM1 | c.367_369delinsAGC (p.Asp123Ser) c.259_261delinsAGC (p.Asp87Ser) c.370_372delinsAGC (p.Asp124Ser) c.239_241delinsAGC (n.239_241delinsAGC) c.*8_*10delinsAGC (n.*8_*10delinsAGC) n.2497_2499delinsAGC n.419_421delinsAGC n.293_295delinsAGC c.169_171delinsAGC (p.Asp57Ser) | |
14 | g.90404460_90404462delinsAGG | CA2579773333 | CALM1 | c.367_369delinsAGG (p.Asp123Arg) c.259_261delinsAGG (p.Asp87Arg) c.370_372delinsAGG (p.Asp124Arg) c.239_241delinsAGG (n.239_241delinsAGG) c.*8_*10delinsAGG (n.*8_*10delinsAGG) n.2497_2499delinsAGG n.419_421delinsAGG n.293_295delinsAGG c.169_171delinsAGG (p.Asp57Arg) | |
14 | g.90404460_90404462delinsCAG | CA2579769766 | CALM1 | c.367_369delinsCAG (p.Asp123Gln) c.259_261delinsCAG (p.Asp87Gln) c.370_372delinsCAG (p.Asp124Gln) c.239_241delinsCAG (n.239_241delinsCAG) c.*8_*10delinsCAG (n.*8_*10delinsCAG) n.2497_2499delinsCAG n.419_421delinsCAG n.293_295delinsCAG c.169_171delinsCAG (p.Asp57Gln) | |
14 | g.90404460_90404462delinsCGG | CA2579770892 | CALM1 | c.367_369delinsCGG (p.Asp123Arg) c.259_261delinsCGG (p.Asp87Arg) c.370_372delinsCGG (p.Asp124Arg) c.239_241delinsCGG (n.239_241delinsCGG) c.*8_*10delinsCGG (n.*8_*10delinsCGG) n.2497_2499delinsCGG n.419_421delinsCGG n.293_295delinsCGG c.169_171delinsCGG (p.Asp57Arg) | |
14 | g.90404460_90404462delinsCTG | CA2579770492 | CALM1 | c.367_369delinsCTG (p.Asp123Leu) c.259_261delinsCTG (p.Asp87Leu) c.370_372delinsCTG (p.Asp124Leu) c.239_241delinsCTG (n.239_241delinsCTG) c.*8_*10delinsCTG (n.*8_*10delinsCTG) n.2497_2499delinsCTG n.419_421delinsCTG n.293_295delinsCTG c.169_171delinsCTG (p.Asp57Leu) | |
14 | g.90404460_90404462delinsTAA | CA2579770844 | CALM1 | c.367_369delinsTAA (p.Asp123Ter) c.259_261delinsTAA (p.Asp87Ter) c.370_372delinsTAA (p.Asp124Ter) c.239_241delinsTAA (n.239_241delinsTAA) c.*8_*10delinsTAA (n.*8_*10delinsTAA) n.2497_2499delinsTAA n.419_421delinsTAA n.293_295delinsTAA c.169_171delinsTAA (p.Asp57Ter) | |
14 | g.90404460_90404462delinsTAC | CA2579772293 | CALM1 | c.367_369delinsTAC (p.Asp123Tyr) c.259_261delinsTAC (p.Asp87Tyr) c.370_372delinsTAC (p.Asp124Tyr) c.239_241delinsTAC (n.239_241delinsTAC) c.*8_*10delinsTAC (n.*8_*10delinsTAC) n.2497_2499delinsTAC n.419_421delinsTAC n.293_295delinsTAC c.169_171delinsTAC (p.Asp57Tyr) | |
14 | g.90404460_90404462delinsTAG | CA2579771044 | CALM1 | c.367_369delinsTAG (p.Asp123Ter) c.259_261delinsTAG (p.Asp87Ter) c.370_372delinsTAG (p.Asp124Ter) c.239_241delinsTAG (n.239_241delinsTAG) c.*8_*10delinsTAG (n.*8_*10delinsTAG) n.2497_2499delinsTAG n.419_421delinsTAG n.293_295delinsTAG c.169_171delinsTAG (p.Asp57Ter) | |
14 | g.90404460_90404462delinsTCG | CA2579771332 | CALM1 | c.367_369delinsTCG (p.Asp123Ser) c.259_261delinsTCG (p.Asp87Ser) c.370_372delinsTCG (p.Asp124Ser) c.239_241delinsTCG (n.239_241delinsTCG) c.*8_*10delinsTCG (n.*8_*10delinsTCG) n.2497_2499delinsTCG n.419_421delinsTCG n.293_295delinsTCG c.169_171delinsTCG (p.Asp57Ser) | |
14 | g.90404460_90404462delinsTGG | CA2579773474 | CALM1 | c.367_369delinsTGG (p.Asp123Trp) c.259_261delinsTGG (p.Asp87Trp) c.370_372delinsTGG (p.Asp124Trp) c.239_241delinsTGG (n.239_241delinsTGG) c.*8_*10delinsTGG (n.*8_*10delinsTGG) n.2497_2499delinsTGG n.419_421delinsTGG n.293_295delinsTGG c.169_171delinsTGG (p.Asp57Trp) | |
14 | g.90404460_90404462delinsTTG | CA2579770820 | CALM1 | c.367_369delinsTTG (p.Asp123Leu) c.259_261delinsTTG (p.Asp87Leu) c.370_372delinsTTG (p.Asp124Leu) c.239_241delinsTTG (n.239_241delinsTTG) c.*8_*10delinsTTG (n.*8_*10delinsTTG) n.2497_2499delinsTTG n.419_421delinsTTG n.293_295delinsTTG c.169_171delinsTTG (p.Asp57Leu) | |
14 | g.90404461A>C | CA390690288 | CALM1 | c.368A>C (p.Asp123Ala) c.260A>C (p.Asp87Ala) c.371A>C (p.Asp124Ala) c.240A>C (n.240A>C) c.*9A>C (n.*9A>C) n.2498A>C n.420A>C n.294A>C c.170A>C (p.Asp57Ala) | |
14 | g.90404461A>G | CA390690289 | CALM1 | c.368A>G (p.Asp123Gly) c.260A>G (p.Asp87Gly) c.371A>G (p.Asp124Gly) c.240A>G (n.240A>G) c.*9A>G (n.*9A>G) n.2498A>G n.420A>G n.294A>G c.170A>G (p.Asp57Gly) | gnomAD v4 |
14 | g.90404461A>T | CA390690290 | CALM1 | c.368A>T (p.Asp123Val) c.260A>T (p.Asp87Val) c.371A>T (p.Asp124Val) c.240A>T (n.240A>T) c.*9A>T (n.*9A>T) n.2498A>T n.420A>T n.294A>T c.170A>T (p.Asp57Val) | |
14 | g.90404461_90404462delinsCA | CA2579770334 | CALM1 | c.368_369delinsCA (p.Asp123Ala) c.260_261delinsCA (p.Asp87Ala) c.371_372delinsCA (p.Asp124Ala) c.240_241delinsCA (n.240_241delinsCA) c.*9_*10delinsCA (n.*9_*10delinsCA) n.2498_2499delinsCA n.420_421delinsCA n.294_295delinsCA c.170_171delinsCA (p.Asp57Ala) | |
14 | g.90404461_90404462delinsCC | CA2579771622 | CALM1 | c.368_369delinsCC (p.Asp123Ala) c.260_261delinsCC (p.Asp87Ala) c.371_372delinsCC (p.Asp124Ala) c.240_241delinsCC (n.240_241delinsCC) c.*9_*10delinsCC (n.*9_*10delinsCC) n.2498_2499delinsCC n.420_421delinsCC n.294_295delinsCC c.170_171delinsCC (p.Asp57Ala) | |
14 | g.90404461_90404462delinsCG | CA2579770515 | CALM1 | c.368_369delinsCG (p.Asp123Ala) c.260_261delinsCG (p.Asp87Ala) c.371_372delinsCG (p.Asp124Ala) c.240_241delinsCG (n.240_241delinsCG) c.*9_*10delinsCG (n.*9_*10delinsCG) n.2498_2499delinsCG n.420_421delinsCG n.294_295delinsCG c.170_171delinsCG (p.Asp57Ala) | |
14 | g.90404461_90404462delinsGA | CA2579771675 | CALM1 | c.368_369delinsGA (p.Asp123Gly) c.260_261delinsGA (p.Asp87Gly) c.371_372delinsGA (p.Asp124Gly) c.240_241delinsGA (n.240_241delinsGA) c.*9_*10delinsGA (n.*9_*10delinsGA) n.2498_2499delinsGA n.420_421delinsGA n.294_295delinsGA c.170_171delinsGA (p.Asp57Gly) | |
14 | g.90404461_90404462delinsGC | CA2579772601 | CALM1 | c.368_369delinsGC (p.Asp123Gly) c.260_261delinsGC (p.Asp87Gly) c.371_372delinsGC (p.Asp124Gly) c.240_241delinsGC (n.240_241delinsGC) c.*9_*10delinsGC (n.*9_*10delinsGC) n.2498_2499delinsGC n.420_421delinsGC n.294_295delinsGC c.170_171delinsGC (p.Asp57Gly) | |
14 | g.90404461_90404462delinsGG | CA2579771919 | CALM1 | c.368_369delinsGG (p.Asp123Gly) c.260_261delinsGG (p.Asp87Gly) c.371_372delinsGG (p.Asp124Gly) c.240_241delinsGG (n.240_241delinsGG) c.*9_*10delinsGG (n.*9_*10delinsGG) n.2498_2499delinsGG n.420_421delinsGG n.294_295delinsGG c.170_171delinsGG (p.Asp57Gly) | |
14 | g.90404461_90404462delinsTA | CA2579771712 | CALM1 | c.368_369delinsTA (p.Asp123Val) c.260_261delinsTA (p.Asp87Val) c.371_372delinsTA (p.Asp124Val) c.240_241delinsTA (n.240_241delinsTA) c.*9_*10delinsTA (n.*9_*10delinsTA) n.2498_2499delinsTA n.420_421delinsTA n.294_295delinsTA c.170_171delinsTA (p.Asp57Val) | |
14 | g.90404461_90404462delinsTC | CA2579772317 | CALM1 | c.368_369delinsTC (p.Asp123Val) c.260_261delinsTC (p.Asp87Val) c.371_372delinsTC (p.Asp124Val) c.240_241delinsTC (n.240_241delinsTC) c.*9_*10delinsTC (n.*9_*10delinsTC) n.2498_2499delinsTC n.420_421delinsTC n.294_295delinsTC c.170_171delinsTC (p.Asp57Val) | |
14 | g.90404461_90404462delinsTG | CA2579773987 | CALM1 | c.368_369delinsTG (p.Asp123Val) c.260_261delinsTG (p.Asp87Val) c.371_372delinsTG (p.Asp124Val) c.240_241delinsTG (n.240_241delinsTG) c.*9_*10delinsTG (n.*9_*10delinsTG) n.2498_2499delinsTG n.420_421delinsTG n.294_295delinsTG c.170_171delinsTG (p.Asp57Val) | |
14 | g.90404462T>A | CA390690291 | CALM1 | c.369T>A (p.Asp123Glu) c.261T>A (p.Asp87Glu) c.372T>A (p.Asp124Glu) c.241T>A (n.241T>A) c.*10T>A (n.*10T>A) n.2499T>A n.421T>A n.295T>A c.171T>A (p.Asp57Glu) | |
14 | g.90404462T>C | CA487760308 | CALM1 | c.369T>C (p.Asp123=) c.261T>C (p.Asp87=) c.372T>C (p.Asp124=) c.241T>C (n.241T>C) c.*10T>C (n.*10T>C) n.2499T>C n.421T>C n.295T>C c.171T>C (p.Asp57=) | dbSNP gnomAD v4 |
14 | g.90404462T>G | CA390690292 | CALM1 | c.369T>G (p.Asp123Glu) c.261T>G (p.Asp87Glu) c.372T>G (p.Asp124Glu) c.241T>G (n.241T>G) c.*10T>G (n.*10T>G) n.2499T>G n.421T>G n.295T>G c.171T>G (p.Asp57Glu) | |
14 | g.90404462T= | CA2154484146 | CALM1 | c.369T= (p.Asp123=) c.261T= (p.Asp87=) c.372T= (p.Asp124=) c.241T= (n.241T=) c.*10T= (n.*10T=) n.2499T= n.421T= n.295T= c.171T= (p.Asp57=) | |
14 | g.90404463G>A | CA390690293 | CALM1 | c.370G>A (p.Glu124Lys) c.262G>A (p.Glu88Lys) c.373G>A (p.Glu125Lys) c.242G>A (n.242G>A) c.*11G>A (n.*11G>A) n.2500G>A n.422G>A n.296G>A c.172G>A (p.Glu58Lys) | |
14 | g.90404463G>C | CA390690294 | CALM1 | c.370G>C (p.Glu124Gln) c.262G>C (p.Glu88Gln) c.373G>C (p.Glu125Gln) c.242G>C (n.242G>C) c.*11G>C (n.*11G>C) n.2500G>C n.422G>C n.296G>C c.172G>C (p.Glu58Gln) | |
14 | g.90404463G>T | CA390690295 | CALM1 | c.370G>T (p.Glu124Ter) c.262G>T (p.Glu88Ter) c.373G>T (p.Glu125Ter) c.242G>T (n.242G>T) c.*11G>T (n.*11G>T) n.2500G>T n.422G>T n.296G>T c.172G>T (p.Glu58Ter) | |
14 | g.90404463_90404464delinsAC | CA2579774284 | CALM1 | c.370_371delinsAC (p.Glu124Thr) c.262_263delinsAC (p.Glu88Thr) c.373_374delinsAC (p.Glu125Thr) c.242_243delinsAC (n.242_243delinsAC) c.*11_*12delinsAC (n.*11_*12delinsAC) n.2500_2501delinsAC n.422_423delinsAC n.296_297delinsAC c.172_173delinsAC (p.Glu58Thr) | |
14 | g.90404463_90404464delinsAG | CA2579770501 | CALM1 | c.370_371delinsAG (p.Glu124Arg) c.262_263delinsAG (p.Glu88Arg) c.373_374delinsAG (p.Glu125Arg) c.242_243delinsAG (n.242_243delinsAG) c.*11_*12delinsAG (n.*11_*12delinsAG) n.2500_2501delinsAG n.422_423delinsAG n.296_297delinsAG c.172_173delinsAG (p.Glu58Arg) | |
14 | g.90404463_90404464delinsAT | CA2579769834 | CALM1 | c.370_371delinsAT (p.Glu124Ile) c.262_263delinsAT (p.Glu88Ile) c.373_374delinsAT (p.Glu125Ile) c.242_243delinsAT (n.242_243delinsAT) c.*11_*12delinsAT (n.*11_*12delinsAT) n.2500_2501delinsAT n.422_423delinsAT n.296_297delinsAT c.172_173delinsAT (p.Glu58Ile) | |
14 | g.90404463_90404464delinsCC | CA2579773415 | CALM1 | c.370_371delinsCC (p.Glu124Pro) c.262_263delinsCC (p.Glu88Pro) c.373_374delinsCC (p.Glu125Pro) c.242_243delinsCC (n.242_243delinsCC) c.*11_*12delinsCC (n.*11_*12delinsCC) n.2500_2501delinsCC n.422_423delinsCC n.296_297delinsCC c.172_173delinsCC (p.Glu58Pro) | |
14 | g.90404463_90404464delinsCG | CA2579772984 | CALM1 | c.370_371delinsCG (p.Glu124Arg) c.262_263delinsCG (p.Glu88Arg) c.373_374delinsCG (p.Glu125Arg) c.242_243delinsCG (n.242_243delinsCG) c.*11_*12delinsCG (n.*11_*12delinsCG) n.2500_2501delinsCG n.422_423delinsCG n.296_297delinsCG c.172_173delinsCG (p.Glu58Arg) | |
14 | g.90404463_90404464delinsCT | CA2579772996 | CALM1 | c.370_371delinsCT (p.Glu124Leu) c.262_263delinsCT (p.Glu88Leu) c.373_374delinsCT (p.Glu125Leu) c.242_243delinsCT (n.242_243delinsCT) c.*11_*12delinsCT (n.*11_*12delinsCT) n.2500_2501delinsCT n.422_423delinsCT n.296_297delinsCT c.172_173delinsCT (p.Glu58Leu) | |
14 | g.90404463_90404464delinsTC | CA2579773464 | CALM1 | c.370_371delinsTC (p.Glu124Ser) c.262_263delinsTC (p.Glu88Ser) c.373_374delinsTC (p.Glu125Ser) c.242_243delinsTC (n.242_243delinsTC) c.*11_*12delinsTC (n.*11_*12delinsTC) n.2500_2501delinsTC n.422_423delinsTC n.296_297delinsTC c.172_173delinsTC (p.Glu58Ser) | |
14 | g.90404463_90404464delinsTG | CA2579770429 | CALM1 | c.370_371delinsTG (p.Glu124Ter) c.262_263delinsTG (p.Glu88Ter) c.373_374delinsTG (p.Glu125Ter) c.242_243delinsTG (n.242_243delinsTG) c.*11_*12delinsTG (n.*11_*12delinsTG) n.2500_2501delinsTG n.422_423delinsTG n.296_297delinsTG c.172_173delinsTG (p.Glu58Ter) | |
14 | g.90404463_90404464delinsTT | CA2579770613 | CALM1 | c.370_371delinsTT (p.Glu124Leu) c.262_263delinsTT (p.Glu88Leu) c.373_374delinsTT (p.Glu125Leu) c.242_243delinsTT (n.242_243delinsTT) c.*11_*12delinsTT (n.*11_*12delinsTT) n.2500_2501delinsTT n.422_423delinsTT n.296_297delinsTT c.172_173delinsTT (p.Glu58Leu) | |
14 | g.90404463_90404465delinsAAG | CA2579774144 | CALM1 | c.370_372delinsAAG (p.Glu124Lys) c.262_264delinsAAG (p.Glu88Lys) c.373_375delinsAAG (p.Glu125Lys) c.242_244delinsAAG (n.242_244delinsAAG) c.*11_*13delinsAAG (n.*11_*13delinsAAG) n.2500_2502delinsAAG n.422_424delinsAAG n.296_298delinsAAG c.172_174delinsAAG (p.Glu58Lys) | |
14 | g.90404463_90404465delinsAAT | CA2579771116 | CALM1 | c.370_372delinsAAT (p.Glu124Asn) c.262_264delinsAAT (p.Glu88Asn) c.373_375delinsAAT (p.Glu125Asn) c.242_244delinsAAT (n.242_244delinsAAT) c.*11_*13delinsAAT (n.*11_*13delinsAAT) n.2500_2502delinsAAT n.422_424delinsAAT n.296_298delinsAAT c.172_174delinsAAT (p.Glu58Asn) | |
14 | g.90404463_90404465delinsACG | CA2579772257 | CALM1 | c.370_372delinsACG (p.Glu124Thr) c.262_264delinsACG (p.Glu88Thr) c.373_375delinsACG (p.Glu125Thr) c.242_244delinsACG (n.242_244delinsACG) c.*11_*13delinsACG (n.*11_*13delinsACG) n.2500_2502delinsACG n.422_424delinsACG n.296_298delinsACG c.172_174delinsACG (p.Glu58Thr) | |
14 | g.90404463_90404465delinsACT | CA2579773705 | CALM1 | c.370_372delinsACT (p.Glu124Thr) c.262_264delinsACT (p.Glu88Thr) c.373_375delinsACT (p.Glu125Thr) c.242_244delinsACT (n.242_244delinsACT) c.*11_*13delinsACT (n.*11_*13delinsACT) n.2500_2502delinsACT n.422_424delinsACT n.296_298delinsACT c.172_174delinsACT (p.Glu58Thr) | |
14 | g.90404463_90404465delinsAGG | CA2579771392 | CALM1 | c.370_372delinsAGG (p.Glu124Arg) c.262_264delinsAGG (p.Glu88Arg) c.373_375delinsAGG (p.Glu125Arg) c.242_244delinsAGG (n.242_244delinsAGG) c.*11_*13delinsAGG (n.*11_*13delinsAGG) n.2500_2502delinsAGG n.422_424delinsAGG n.296_298delinsAGG c.172_174delinsAGG (p.Glu58Arg) | |
14 | g.90404463_90404465delinsATG | CA2579771781 | CALM1 | c.370_372delinsATG (p.Glu124Met) c.262_264delinsATG (p.Glu88Met) c.373_375delinsATG (p.Glu125Met) c.242_244delinsATG (n.242_244delinsATG) c.*11_*13delinsATG (n.*11_*13delinsATG) n.2500_2502delinsATG n.422_424delinsATG n.296_298delinsATG c.172_174delinsATG (p.Glu58Met) | |
14 | g.90404463_90404465delinsATT | CA2579773601 | CALM1 | c.370_372delinsATT (p.Glu124Ile) c.262_264delinsATT (p.Glu88Ile) c.373_375delinsATT (p.Glu125Ile) c.242_244delinsATT (n.242_244delinsATT) c.*11_*13delinsATT (n.*11_*13delinsATT) n.2500_2502delinsATT n.422_424delinsATT n.296_298delinsATT c.172_174delinsATT (p.Glu58Ile) | |
14 | g.90404463_90404465delinsCAG | CA2579772016 | CALM1 | c.370_372delinsCAG (p.Glu124Gln) c.262_264delinsCAG (p.Glu88Gln) c.373_375delinsCAG (p.Glu125Gln) c.242_244delinsCAG (n.242_244delinsCAG) c.*11_*13delinsCAG (n.*11_*13delinsCAG) n.2500_2502delinsCAG n.422_424delinsCAG n.296_298delinsCAG c.172_174delinsCAG (p.Glu58Gln) | |
14 | g.90404463_90404465delinsCAT | CA2579773225 | CALM1 | c.370_372delinsCAT (p.Glu124His) c.262_264delinsCAT (p.Glu88His) c.373_375delinsCAT (p.Glu125His) c.242_244delinsCAT (n.242_244delinsCAT) c.*11_*13delinsCAT (n.*11_*13delinsCAT) n.2500_2502delinsCAT n.422_424delinsCAT n.296_298delinsCAT c.172_174delinsCAT (p.Glu58His) | |
14 | g.90404463_90404465delinsCCT | CA2579770307 | CALM1 | c.370_372delinsCCT (p.Glu124Pro) c.262_264delinsCCT (p.Glu88Pro) c.373_375delinsCCT (p.Glu125Pro) c.242_244delinsCCT (n.242_244delinsCCT) c.*11_*13delinsCCT (n.*11_*13delinsCCT) n.2500_2502delinsCCT n.422_424delinsCCT n.296_298delinsCCT c.172_174delinsCCT (p.Glu58Pro) | |
14 | g.90404463_90404465delinsCGG | CA2579774256 | CALM1 | c.370_372delinsCGG (p.Glu124Arg) c.262_264delinsCGG (p.Glu88Arg) c.373_375delinsCGG (p.Glu125Arg) c.242_244delinsCGG (n.242_244delinsCGG) c.*11_*13delinsCGG (n.*11_*13delinsCGG) n.2500_2502delinsCGG n.422_424delinsCGG n.296_298delinsCGG c.172_174delinsCGG (p.Glu58Arg) | |
14 | g.90404463_90404465delinsCTT | CA2579772128 | CALM1 | c.370_372delinsCTT (p.Glu124Leu) c.262_264delinsCTT (p.Glu88Leu) c.373_375delinsCTT (p.Glu125Leu) c.242_244delinsCTT (n.242_244delinsCTT) c.*11_*13delinsCTT (n.*11_*13delinsCTT) n.2500_2502delinsCTT n.422_424delinsCTT n.296_298delinsCTT c.172_174delinsCTT (p.Glu58Leu) | |
14 | g.90404463_90404465delinsTAC | CA2579771860 | CALM1 | c.370_372delinsTAC (p.Glu124Tyr) c.262_264delinsTAC (p.Glu88Tyr) c.373_375delinsTAC (p.Glu125Tyr) c.242_244delinsTAC (n.242_244delinsTAC) c.*11_*13delinsTAC (n.*11_*13delinsTAC) n.2500_2502delinsTAC n.422_424delinsTAC n.296_298delinsTAC c.172_174delinsTAC (p.Glu58Tyr) | |
14 | g.90404463_90404465delinsTAG | CA2579771802 | CALM1 | c.370_372delinsTAG (p.Glu124Ter) c.262_264delinsTAG (p.Glu88Ter) c.373_375delinsTAG (p.Glu125Ter) c.242_244delinsTAG (n.242_244delinsTAG) c.*11_*13delinsTAG (n.*11_*13delinsTAG) n.2500_2502delinsTAG n.422_424delinsTAG n.296_298delinsTAG c.172_174delinsTAG (p.Glu58Ter) | |
14 | g.90404463_90404465delinsTAT | CA2579771613 | CALM1 | c.370_372delinsTAT (p.Glu124Tyr) c.262_264delinsTAT (p.Glu88Tyr) c.373_375delinsTAT (p.Glu125Tyr) c.242_244delinsTAT (n.242_244delinsTAT) c.*11_*13delinsTAT (n.*11_*13delinsTAT) n.2500_2502delinsTAT n.422_424delinsTAT n.296_298delinsTAT c.172_174delinsTAT (p.Glu58Tyr) | |
14 | g.90404463_90404465delinsTCG | CA2579772889 | CALM1 | c.370_372delinsTCG (p.Glu124Ser) c.262_264delinsTCG (p.Glu88Ser) c.373_375delinsTCG (p.Glu125Ser) c.242_244delinsTCG (n.242_244delinsTCG) c.*11_*13delinsTCG (n.*11_*13delinsTCG) n.2500_2502delinsTCG n.422_424delinsTCG n.296_298delinsTCG c.172_174delinsTCG (p.Glu58Ser) | |
14 | g.90404463_90404465delinsTCT | CA2579773940 | CALM1 | c.370_372delinsTCT (p.Glu124Ser) c.262_264delinsTCT (p.Glu88Ser) c.373_375delinsTCT (p.Glu125Ser) c.242_244delinsTCT (n.242_244delinsTCT) c.*11_*13delinsTCT (n.*11_*13delinsTCT) n.2500_2502delinsTCT n.422_424delinsTCT n.296_298delinsTCT c.172_174delinsTCT (p.Glu58Ser) | |
14 | g.90404463_90404465delinsTGG | CA2579773596 | CALM1 | c.370_372delinsTGG (p.Glu124Trp) c.262_264delinsTGG (p.Glu88Trp) c.373_375delinsTGG (p.Glu125Trp) c.242_244delinsTGG (n.242_244delinsTGG) c.*11_*13delinsTGG (n.*11_*13delinsTGG) n.2500_2502delinsTGG n.422_424delinsTGG n.296_298delinsTGG c.172_174delinsTGG (p.Glu58Trp) | |
14 | g.90404463_90404465delinsTGT | CA2579771959 | CALM1 | c.370_372delinsTGT (p.Glu124Cys) c.262_264delinsTGT (p.Glu88Cys) c.373_375delinsTGT (p.Glu125Cys) c.242_244delinsTGT (n.242_244delinsTGT) c.*11_*13delinsTGT (n.*11_*13delinsTGT) n.2500_2502delinsTGT n.422_424delinsTGT n.296_298delinsTGT c.172_174delinsTGT (p.Glu58Cys) | |
14 | g.90404463_90404465delinsTTG | CA2579772622 | CALM1 | c.370_372delinsTTG (p.Glu124Leu) c.262_264delinsTTG (p.Glu88Leu) c.373_375delinsTTG (p.Glu125Leu) c.242_244delinsTTG (n.242_244delinsTTG) c.*11_*13delinsTTG (n.*11_*13delinsTTG) n.2500_2502delinsTTG n.422_424delinsTTG n.296_298delinsTTG c.172_174delinsTTG (p.Glu58Leu) | |
14 | g.90404463_90404465delinsTTT | CA2579770789 | CALM1 | c.370_372delinsTTT (p.Glu124Phe) c.262_264delinsTTT (p.Glu88Phe) c.373_375delinsTTT (p.Glu125Phe) c.242_244delinsTTT (n.242_244delinsTTT) c.*11_*13delinsTTT (n.*11_*13delinsTTT) n.2500_2502delinsTTT n.422_424delinsTTT n.296_298delinsTTT c.172_174delinsTTT (p.Glu58Phe) | |
14 | g.90404464A>C | CA390690296 | CALM1 | c.371A>C (p.Glu124Ala) c.263A>C (p.Glu88Ala) c.374A>C (p.Glu125Ala) c.243A>C (n.243A>C) c.*12A>C (n.*12A>C) n.2501A>C n.423A>C n.297A>C c.173A>C (p.Glu58Ala) | gnomAD v4 |
14 | g.90404464A>G | CA390690297 | CALM1 | c.371A>G (p.Glu124Gly) c.263A>G (p.Glu88Gly) c.374A>G (p.Glu125Gly) c.243A>G (n.243A>G) c.*12A>G (n.*12A>G) n.2501A>G n.423A>G n.297A>G c.173A>G (p.Glu58Gly) | |
14 | g.90404464A>T | CA390690298 | CALM1 | c.371A>T (p.Glu124Val) c.263A>T (p.Glu88Val) c.374A>T (p.Glu125Val) c.243A>T (n.243A>T) c.*12A>T (n.*12A>T) n.2501A>T n.423A>T n.297A>T c.173A>T (p.Glu58Val) | |
14 | g.90404464_90404465delinsCC | CA2579771901 | CALM1 | c.371_372delinsCC (p.Glu124Ala) c.263_264delinsCC (p.Glu88Ala) c.374_375delinsCC (p.Glu125Ala) c.243_244delinsCC (n.243_244delinsCC) c.*12_*13delinsCC (n.*12_*13delinsCC) n.2501_2502delinsCC n.423_424delinsCC n.297_298delinsCC c.173_174delinsCC (p.Glu58Ala) | |
14 | g.90404464_90404465delinsCG | CA2579773002 | CALM1 | c.371_372delinsCG (p.Glu124Ala) c.263_264delinsCG (p.Glu88Ala) c.374_375delinsCG (p.Glu125Ala) c.243_244delinsCG (n.243_244delinsCG) c.*12_*13delinsCG (n.*12_*13delinsCG) n.2501_2502delinsCG n.423_424delinsCG n.297_298delinsCG c.173_174delinsCG (p.Glu58Ala) | |
14 | g.90404464_90404465delinsCT | CA2579771196 | CALM1 | c.371_372delinsCT (p.Glu124Ala) c.263_264delinsCT (p.Glu88Ala) c.374_375delinsCT (p.Glu125Ala) c.243_244delinsCT (n.243_244delinsCT) c.*12_*13delinsCT (n.*12_*13delinsCT) n.2501_2502delinsCT n.423_424delinsCT n.297_298delinsCT c.173_174delinsCT (p.Glu58Ala) | |
14 | g.90404464_90404465delinsGC | CA2579769947 | CALM1 | c.371_372delinsGC (p.Glu124Gly) c.263_264delinsGC (p.Glu88Gly) c.374_375delinsGC (p.Glu125Gly) c.243_244delinsGC (n.243_244delinsGC) c.*12_*13delinsGC (n.*12_*13delinsGC) n.2501_2502delinsGC n.423_424delinsGC n.297_298delinsGC c.173_174delinsGC (p.Glu58Gly) | |
14 | g.90404464_90404465delinsGG | CA2579771809 | CALM1 | c.371_372delinsGG (p.Glu124Gly) c.263_264delinsGG (p.Glu88Gly) c.374_375delinsGG (p.Glu125Gly) c.243_244delinsGG (n.243_244delinsGG) c.*12_*13delinsGG (n.*12_*13delinsGG) n.2501_2502delinsGG n.423_424delinsGG n.297_298delinsGG c.173_174delinsGG (p.Glu58Gly) | |
14 | g.90404464_90404465delinsGT | CA2579770525 | CALM1 | c.371_372delinsGT (p.Glu124Gly) c.263_264delinsGT (p.Glu88Gly) c.374_375delinsGT (p.Glu125Gly) c.243_244delinsGT (n.243_244delinsGT) c.*12_*13delinsGT (n.*12_*13delinsGT) n.2501_2502delinsGT n.423_424delinsGT n.297_298delinsGT c.173_174delinsGT (p.Glu58Gly) | |
14 | g.90404464_90404465delinsTG | CA2579773755 | CALM1 | c.371_372delinsTG (p.Glu124Val) c.263_264delinsTG (p.Glu88Val) c.374_375delinsTG (p.Glu125Val) c.243_244delinsTG (n.243_244delinsTG) c.*12_*13delinsTG (n.*12_*13delinsTG) n.2501_2502delinsTG n.423_424delinsTG n.297_298delinsTG c.173_174delinsTG (p.Glu58Val) | |
14 | g.90404464_90404465delinsTT | CA2579772745 | CALM1 | c.371_372delinsTT (p.Glu124Val) c.263_264delinsTT (p.Glu88Val) c.374_375delinsTT (p.Glu125Val) c.243_244delinsTT (n.243_244delinsTT) c.*12_*13delinsTT (n.*12_*13delinsTT) n.2501_2502delinsTT n.423_424delinsTT n.297_298delinsTT c.173_174delinsTT (p.Glu58Val) | |
14 | g.90404465A>C | CA390690299 | CALM1 | c.372A>C (p.Glu124Asp) c.264A>C (p.Glu88Asp) c.375A>C (p.Glu125Asp) c.244A>C (n.244A>C) c.*13A>C (n.*13A>C) n.2502A>C n.424A>C n.298A>C c.174A>C (p.Glu58Asp) | |
14 | g.90404465A>G | CA487760318 | CALM1 | c.372A>G (p.Glu124=) c.264A>G (p.Glu88=) c.375A>G (p.Glu125=) c.244A>G (n.244A>G) c.*13A>G (n.*13A>G) n.2502A>G n.424A>G n.298A>G c.174A>G (p.Glu58=) | |
14 | g.90404465A>T | CA390690300 | CALM1 | c.372A>T (p.Glu124Asp) c.264A>T (p.Glu88Asp) c.375A>T (p.Glu125Asp) c.244A>T (n.244A>T) c.*13A>T (n.*13A>T) n.2502A>T n.424A>T n.298A>T c.174A>T (p.Glu58Asp) | |
14 | g.90404466A>C | CA390690302 | CALM1 | c.373A>C (p.Met125Leu) c.265A>C (p.Met89Leu) c.376A>C (p.Met126Leu) c.245A>C (n.245A>C) c.*14A>C (n.*14A>C) n.2503A>C n.425A>C n.299A>C c.175A>C (p.Met59Leu) | |
14 | g.90404466A>G | CA390690303 | CALM1 | c.373A>G (p.Met125Val) c.265A>G (p.Met89Val) c.376A>G (p.Met126Val) c.245A>G (n.245A>G) c.*14A>G (n.*14A>G) n.2503A>G n.425A>G n.299A>G c.175A>G (p.Met59Val) | |
14 | g.90404466A>T | CA390690301 | CALM1 | c.373A>T (p.Met125Leu) c.265A>T (p.Met89Leu) c.376A>T (p.Met126Leu) c.245A>T (n.245A>T) c.*14A>T (n.*14A>T) n.2503A>T n.425A>T n.299A>T c.175A>T (p.Met59Leu) | |
14 | g.90404466_90404467delinsCA | CA2579770952 | CALM1 | c.373_374delinsCA (p.Met125Gln) c.265_266delinsCA (p.Met89Gln) c.376_377delinsCA (p.Met126Gln) c.245_246delinsCA (n.245_246delinsCA) c.*14_*15delinsCA (n.*14_*15delinsCA) n.2503_2504delinsCA n.425_426delinsCA n.299_300delinsCA c.175_176delinsCA (p.Met59Gln) | |
14 | g.90404466_90404467delinsCC | CA2579772100 | CALM1 | c.373_374delinsCC (p.Met125Pro) c.265_266delinsCC (p.Met89Pro) c.376_377delinsCC (p.Met126Pro) c.245_246delinsCC (n.245_246delinsCC) c.*14_*15delinsCC (n.*14_*15delinsCC) n.2503_2504delinsCC n.425_426delinsCC n.299_300delinsCC c.175_176delinsCC (p.Met59Pro) | |
14 | g.90404466_90404467delinsCG | CA2579771090 | CALM1 | c.373_374delinsCG (p.Met125Arg) c.265_266delinsCG (p.Met89Arg) c.376_377delinsCG (p.Met126Arg) c.245_246delinsCG (n.245_246delinsCG) c.*14_*15delinsCG (n.*14_*15delinsCG) n.2503_2504delinsCG n.425_426delinsCG n.299_300delinsCG c.175_176delinsCG (p.Met59Arg) | |
14 | g.90404466_90404467delinsGA | CA2579771491 | CALM1 | c.373_374delinsGA (p.Met125Glu) c.265_266delinsGA (p.Met89Glu) c.376_377delinsGA (p.Met126Glu) c.245_246delinsGA (n.245_246delinsGA) c.*14_*15delinsGA (n.*14_*15delinsGA) n.2503_2504delinsGA n.425_426delinsGA n.299_300delinsGA c.175_176delinsGA (p.Met59Glu) | |
14 | g.90404466_90404467delinsGC | CA2579769982 | CALM1 | c.373_374delinsGC (p.Met125Ala) c.265_266delinsGC (p.Met89Ala) c.376_377delinsGC (p.Met126Ala) c.245_246delinsGC (n.245_246delinsGC) c.*14_*15delinsGC (n.*14_*15delinsGC) n.2503_2504delinsGC n.425_426delinsGC n.299_300delinsGC c.175_176delinsGC (p.Met59Ala) | |
14 | g.90404466_90404467delinsGG | CA2579771054 | CALM1 | c.373_374delinsGG (p.Met125Gly) c.265_266delinsGG (p.Met89Gly) c.376_377delinsGG (p.Met126Gly) c.245_246delinsGG (n.245_246delinsGG) c.*14_*15delinsGG (n.*14_*15delinsGG) n.2503_2504delinsGG n.425_426delinsGG n.299_300delinsGG c.175_176delinsGG (p.Met59Gly) | |
14 | g.90404466_90404467delinsTA | CA2579771880 | CALM1 | c.373_374delinsTA (p.Met125Ter) c.265_266delinsTA (p.Met89Ter) c.376_377delinsTA (p.Met126Ter) c.245_246delinsTA (n.245_246delinsTA) c.*14_*15delinsTA (n.*14_*15delinsTA) n.2503_2504delinsTA n.425_426delinsTA n.299_300delinsTA c.175_176delinsTA (p.Met59Ter) | |
14 | g.90404466_90404467delinsTC | CA2579771790 | CALM1 | c.373_374delinsTC (p.Met125Ser) c.265_266delinsTC (p.Met89Ser) c.376_377delinsTC (p.Met126Ser) c.245_246delinsTC (n.245_246delinsTC) c.*14_*15delinsTC (n.*14_*15delinsTC) n.2503_2504delinsTC n.425_426delinsTC n.299_300delinsTC c.175_176delinsTC (p.Met59Ser) | |
14 | g.90404466_90404467delinsTG | CA2579773292 | CALM1 | c.373_374delinsTG (p.Met125Trp) c.265_266delinsTG (p.Met89Trp) c.376_377delinsTG (p.Met126Trp) c.245_246delinsTG (n.245_246delinsTG) c.*14_*15delinsTG (n.*14_*15delinsTG) n.2503_2504delinsTG n.425_426delinsTG n.299_300delinsTG c.175_176delinsTG (p.Met59Trp) | |
14 | g.90404466_90404468delinsCCC | CA2579770877 | CALM1 | c.373_375delinsCCC (p.Met125Pro) c.265_267delinsCCC (p.Met89Pro) c.376_378delinsCCC (p.Met126Pro) c.245_247delinsCCC (n.245_247delinsCCC) c.*14_*16delinsCCC (n.*14_*16delinsCCC) n.2503_2505delinsCCC n.425_427delinsCCC n.299_301delinsCCC c.175_177delinsCCC (p.Met59Pro) | |
14 | g.90404466_90404468delinsCCT | CA2579771967 | CALM1 | c.373_375delinsCCT (p.Met125Pro) c.265_267delinsCCT (p.Met89Pro) c.376_378delinsCCT (p.Met126Pro) c.245_247delinsCCT (n.245_247delinsCCT) c.*14_*16delinsCCT (n.*14_*16delinsCCT) n.2503_2505delinsCCT n.425_427delinsCCT n.299_301delinsCCT c.175_177delinsCCT (p.Met59Pro) | |
14 | g.90404466_90404468delinsCGT | CA2579772288 | CALM1 | c.373_375delinsCGT (p.Met125Arg) c.265_267delinsCGT (p.Met89Arg) c.376_378delinsCGT (p.Met126Arg) c.245_247delinsCGT (n.245_247delinsCGT) c.*14_*16delinsCGT (n.*14_*16delinsCGT) n.2503_2505delinsCGT n.425_427delinsCGT n.299_301delinsCGT c.175_177delinsCGT (p.Met59Arg) | |
14 | g.90404466_90404468delinsCTC | CA2579773926 | CALM1 | c.373_375delinsCTC (p.Met125Leu) c.265_267delinsCTC (p.Met89Leu) c.376_378delinsCTC (p.Met126Leu) c.245_247delinsCTC (n.245_247delinsCTC) c.*14_*16delinsCTC (n.*14_*16delinsCTC) n.2503_2505delinsCTC n.425_427delinsCTC n.299_301delinsCTC c.175_177delinsCTC (p.Met59Leu) | |
14 | g.90404466_90404468delinsCTT | CA2579771644 | CALM1 | c.373_375delinsCTT (p.Met125Leu) c.265_267delinsCTT (p.Met89Leu) c.376_378delinsCTT (p.Met126Leu) c.245_247delinsCTT (n.245_247delinsCTT) c.*14_*16delinsCTT (n.*14_*16delinsCTT) n.2503_2505delinsCTT n.425_427delinsCTT n.299_301delinsCTT c.175_177delinsCTT (p.Met59Leu) | |
14 | g.90404466_90404468delinsGCT | CA2579770146 | CALM1 | c.373_375delinsGCT (p.Met125Ala) c.265_267delinsGCT (p.Met89Ala) c.376_378delinsGCT (p.Met126Ala) c.245_247delinsGCT (n.245_247delinsGCT) c.*14_*16delinsGCT (n.*14_*16delinsGCT) n.2503_2505delinsGCT n.425_427delinsGCT n.299_301delinsGCT c.175_177delinsGCT (p.Met59Ala) | |
14 | g.90404466_90404468delinsGGT | CA2579773919 | CALM1 | c.373_375delinsGGT (p.Met125Gly) c.265_267delinsGGT (p.Met89Gly) c.376_378delinsGGT (p.Met126Gly) c.245_247delinsGGT (n.245_247delinsGGT) c.*14_*16delinsGGT (n.*14_*16delinsGGT) n.2503_2505delinsGGT n.425_427delinsGGT n.299_301delinsGGT c.175_177delinsGGT (p.Met59Gly) | |
14 | g.90404466_90404468delinsGTA | CA2579769744 | CALM1 | c.373_375delinsGTA (p.Met125Val) c.265_267delinsGTA (p.Met89Val) c.376_378delinsGTA (p.Met126Val) c.245_247delinsGTA (n.245_247delinsGTA) c.*14_*16delinsGTA (n.*14_*16delinsGTA) n.2503_2505delinsGTA n.425_427delinsGTA n.299_301delinsGTA c.175_177delinsGTA (p.Met59Val) | |
14 | g.90404466_90404468delinsGTT | CA2579773738 | CALM1 | c.373_375delinsGTT (p.Met125Val) c.265_267delinsGTT (p.Met89Val) c.376_378delinsGTT (p.Met126Val) c.245_247delinsGTT (n.245_247delinsGTT) c.*14_*16delinsGTT (n.*14_*16delinsGTT) n.2503_2505delinsGTT n.425_427delinsGTT n.299_301delinsGTT c.175_177delinsGTT (p.Met59Val) | |
14 | g.90404466_90404468delinsTCT | CA2579772262 | CALM1 | c.373_375delinsTCT (p.Met125Ser) c.265_267delinsTCT (p.Met89Ser) c.376_378delinsTCT (p.Met126Ser) c.245_247delinsTCT (n.245_247delinsTCT) c.*14_*16delinsTCT (n.*14_*16delinsTCT) n.2503_2505delinsTCT n.425_427delinsTCT n.299_301delinsTCT c.175_177delinsTCT (p.Met59Ser) | |
14 | g.90404466_90404468delinsTTA | CA2579773110 | CALM1 | c.373_375delinsTTA (p.Met125Leu) c.265_267delinsTTA (p.Met89Leu) c.376_378delinsTTA (p.Met126Leu) c.245_247delinsTTA (n.245_247delinsTTA) c.*14_*16delinsTTA (n.*14_*16delinsTTA) n.2503_2505delinsTTA n.425_427delinsTTA n.299_301delinsTTA c.175_177delinsTTA (p.Met59Leu) | |
14 | g.90404466_90404468delinsTTT | CA2579773204 | CALM1 | c.373_375delinsTTT (p.Met125Phe) c.265_267delinsTTT (p.Met89Phe) c.376_378delinsTTT (p.Met126Phe) c.245_247delinsTTT (n.245_247delinsTTT) c.*14_*16delinsTTT (n.*14_*16delinsTTT) n.2503_2505delinsTTT n.425_427delinsTTT n.299_301delinsTTT c.175_177delinsTTT (p.Met59Phe) | |
14 | g.90404467T>A | CA390690304 | CALM1 | c.374T>A (p.Met125Lys) c.266T>A (p.Met89Lys) c.377T>A (p.Met126Lys) c.246T>A (n.246T>A) c.*15T>A (n.*15T>A) n.2504T>A n.426T>A n.300T>A c.176T>A (p.Met59Lys) | |
14 | g.90404467T>C | CA390690305 | CALM1 | c.374T>C (p.Met125Thr) c.266T>C (p.Met89Thr) c.377T>C (p.Met126Thr) c.246T>C (n.246T>C) c.*15T>C (n.*15T>C) n.2504T>C n.426T>C n.300T>C c.176T>C (p.Met59Thr) | |
14 | g.90404467T>G | CA390690306 | CALM1 | c.374T>G (p.Met125Arg) c.266T>G (p.Met89Arg) c.377T>G (p.Met126Arg) c.246T>G (n.246T>G) c.*15T>G (n.*15T>G) n.2504T>G n.426T>G n.300T>G c.176T>G (p.Met59Arg) | |
14 | g.90404467_90404468delinsAT | CA2579772335 | CALM1 | c.374_375delinsAT (p.Met125Asn) c.266_267delinsAT (p.Met89Asn) c.377_378delinsAT (p.Met126Asn) c.246_247delinsAT (n.246_247delinsAT) c.*15_*16delinsAT (n.*15_*16delinsAT) n.2504_2505delinsAT n.426_427delinsAT n.300_301delinsAT c.176_177delinsAT (p.Met59Asn) | |
14 | g.90404467_90404468delinsCA | CA2579771927 | CALM1 | c.374_375delinsCA (p.Met125Thr) c.266_267delinsCA (p.Met89Thr) c.377_378delinsCA (p.Met126Thr) c.246_247delinsCA (n.246_247delinsCA) c.*15_*16delinsCA (n.*15_*16delinsCA) n.2504_2505delinsCA n.426_427delinsCA n.300_301delinsCA c.176_177delinsCA (p.Met59Thr) | |
14 | g.90404467_90404468delinsCT | CA2579774000 | CALM1 | c.374_375delinsCT (p.Met125Thr) c.266_267delinsCT (p.Met89Thr) c.377_378delinsCT (p.Met126Thr) c.246_247delinsCT (n.246_247delinsCT) c.*15_*16delinsCT (n.*15_*16delinsCT) n.2504_2505delinsCT n.426_427delinsCT n.300_301delinsCT c.176_177delinsCT (p.Met59Thr) | |
14 | g.90404467_90404468delinsGT | CA2579773338 | CALM1 | c.374_375delinsGT (p.Met125Ser) c.266_267delinsGT (p.Met89Ser) c.377_378delinsGT (p.Met126Ser) c.246_247delinsGT (n.246_247delinsGT) c.*15_*16delinsGT (n.*15_*16delinsGT) n.2504_2505delinsGT n.426_427delinsGT n.300_301delinsGT c.176_177delinsGT (p.Met59Ser) | |
14 | g.90404468G>A | CA390690307 | CALM1 | c.375G>A (p.Met125Ile) c.267G>A (p.Met89Ile) c.378G>A (p.Met126Ile) c.247G>A (n.247G>A) c.*16G>A (n.*16G>A) n.2505G>A n.427G>A n.301G>A c.177G>A (p.Met59Ile) | |
14 | g.90404468G>C | CA390690308 | CALM1 | c.375G>C (p.Met125Ile) c.267G>C (p.Met89Ile) c.378G>C (p.Met126Ile) c.247G>C (n.247G>C) c.*16G>C (n.*16G>C) n.2505G>C n.427G>C n.301G>C c.177G>C (p.Met59Ile) | |
14 | g.90404468G>T | CA390690309 | CALM1 | c.375G>T (p.Met125Ile) c.267G>T (p.Met89Ile) c.378G>T (p.Met126Ile) c.247G>T (n.247G>T) c.*16G>T (n.*16G>T) n.2505G>T n.427G>T n.301G>T c.177G>T (p.Met59Ile) | |
14 | g.90404469A>C | CA390690310 | CALM1 | c.376A>C (p.Ile126Leu) c.268A>C (p.Ile90Leu) c.379A>C (p.Ile127Leu) c.248A>C (n.248A>C) c.*17A>C (n.*17A>C) n.2506A>C n.428A>C n.302A>C c.178A>C (p.Ile60Leu) | |
14 | g.90404469A>G | CA390690311 | CALM1 | c.376A>G (p.Ile126Val) c.268A>G (p.Ile90Val) c.379A>G (p.Ile127Val) c.248A>G (n.248A>G) c.*17A>G (n.*17A>G) n.2506A>G n.428A>G n.302A>G c.178A>G (p.Ile60Val) | |
14 | g.90404469A>T | CA390690312 | CALM1 | c.376A>T (p.Ile126Phe) c.268A>T (p.Ile90Phe) c.379A>T (p.Ile127Phe) c.248A>T (n.248A>T) c.*17A>T (n.*17A>T) n.2506A>T n.428A>T n.302A>T c.178A>T (p.Ile60Phe) | |
14 | g.90404469_90404470delinsCA | CA2579771642 | CALM1 | c.376_377delinsCA (p.Ile126His) c.268_269delinsCA (p.Ile90His) c.379_380delinsCA (p.Ile127His) c.248_249delinsCA (n.248_249delinsCA) c.*17_*18delinsCA (n.*17_*18delinsCA) n.2506_2507delinsCA n.428_429delinsCA n.302_303delinsCA c.178_179delinsCA (p.Ile60His) | |
14 | g.90404469_90404470delinsCC | CA2579770753 | CALM1 | c.376_377delinsCC (p.Ile126Pro) c.268_269delinsCC (p.Ile90Pro) c.379_380delinsCC (p.Ile127Pro) c.248_249delinsCC (n.248_249delinsCC) c.*17_*18delinsCC (n.*17_*18delinsCC) n.2506_2507delinsCC n.428_429delinsCC n.302_303delinsCC c.178_179delinsCC (p.Ile60Pro) | |
14 | g.90404469_90404470delinsGA | CA2579772621 | CALM1 | c.376_377delinsGA (p.Ile126Asp) c.268_269delinsGA (p.Ile90Asp) c.379_380delinsGA (p.Ile127Asp) c.248_249delinsGA (n.248_249delinsGA) c.*17_*18delinsGA (n.*17_*18delinsGA) n.2506_2507delinsGA n.428_429delinsGA n.302_303delinsGA c.178_179delinsGA (p.Ile60Asp) | |
14 | g.90404469_90404470delinsGC | CA2579770066 | CALM1 | c.376_377delinsGC (p.Ile126Ala) c.268_269delinsGC (p.Ile90Ala) c.379_380delinsGC (p.Ile127Ala) c.248_249delinsGC (n.248_249delinsGC) c.*17_*18delinsGC (n.*17_*18delinsGC) n.2506_2507delinsGC n.428_429delinsGC n.302_303delinsGC c.178_179delinsGC (p.Ile60Ala) | |
14 | g.90404469_90404470delinsGG | CA2579772895 | CALM1 | c.376_377delinsGG (p.Ile126Gly) c.268_269delinsGG (p.Ile90Gly) c.379_380delinsGG (p.Ile127Gly) c.248_249delinsGG (n.248_249delinsGG) c.*17_*18delinsGG (n.*17_*18delinsGG) n.2506_2507delinsGG n.428_429delinsGG n.302_303delinsGG c.178_179delinsGG (p.Ile60Gly) | |
14 | g.90404469_90404470delinsTA | CA2579769936 | CALM1 | c.376_377delinsTA (p.Ile126Tyr) c.268_269delinsTA (p.Ile90Tyr) c.379_380delinsTA (p.Ile127Tyr) c.248_249delinsTA (n.248_249delinsTA) c.*17_*18delinsTA (n.*17_*18delinsTA) n.2506_2507delinsTA n.428_429delinsTA n.302_303delinsTA c.178_179delinsTA (p.Ile60Tyr) | |
14 | g.90404469_90404470delinsTC | CA2579770016 | CALM1 | c.376_377delinsTC (p.Ile126Ser) c.268_269delinsTC (p.Ile90Ser) c.379_380delinsTC (p.Ile127Ser) c.248_249delinsTC (n.248_249delinsTC) c.*17_*18delinsTC (n.*17_*18delinsTC) n.2506_2507delinsTC n.428_429delinsTC n.302_303delinsTC c.178_179delinsTC (p.Ile60Ser) | |
14 | g.90404469_90404470delinsTG | CA2579771053 | CALM1 | c.376_377delinsTG (p.Ile126Cys) c.268_269delinsTG (p.Ile90Cys) c.379_380delinsTG (p.Ile127Cys) c.248_249delinsTG (n.248_249delinsTG) c.*17_*18delinsTG (n.*17_*18delinsTG) n.2506_2507delinsTG n.428_429delinsTG n.302_303delinsTG c.178_179delinsTG (p.Ile60Cys) | |
14 | g.90404469_90404471delinsCAG | CA2579771988 | CALM1 | c.376_378delinsCAG (p.Ile126Gln) c.268_270delinsCAG (p.Ile90Gln) c.379_381delinsCAG (p.Ile127Gln) c.248_250delinsCAG (n.248_250delinsCAG) c.*17_*19delinsCAG (n.*17_*19delinsCAG) n.2506_2508delinsCAG n.428_430delinsCAG n.302_304delinsCAG c.178_180delinsCAG (p.Ile60Gln) | |
14 | g.90404469_90404471delinsCCG | CA2579772441 | CALM1 | c.376_378delinsCCG (p.Ile126Pro) c.268_270delinsCCG (p.Ile90Pro) c.379_381delinsCCG (p.Ile127Pro) c.248_250delinsCCG (n.248_250delinsCCG) c.*17_*19delinsCCG (n.*17_*19delinsCCG) n.2506_2508delinsCCG n.428_430delinsCCG n.302_304delinsCCG c.178_180delinsCCG (p.Ile60Pro) | |
14 | g.90404469_90404471delinsCCT | CA2579773610 | CALM1 | c.376_378delinsCCT (p.Ile126Pro) c.268_270delinsCCT (p.Ile90Pro) c.379_381delinsCCT (p.Ile127Pro) c.248_250delinsCCT (n.248_250delinsCCT) c.*17_*19delinsCCT (n.*17_*19delinsCCT) n.2506_2508delinsCCT n.428_430delinsCCT n.302_304delinsCCT c.178_180delinsCCT (p.Ile60Pro) | |
14 | g.90404469_90404471delinsCGG | CA2579772392 | CALM1 | c.376_378delinsCGG (p.Ile126Arg) c.268_270delinsCGG (p.Ile90Arg) c.379_381delinsCGG (p.Ile127Arg) c.248_250delinsCGG (n.248_250delinsCGG) c.*17_*19delinsCGG (n.*17_*19delinsCGG) n.2506_2508delinsCGG n.428_430delinsCGG n.302_304delinsCGG c.178_180delinsCGG (p.Ile60Arg) | |
14 | g.90404469_90404471delinsCTA | CA2579772343 | CALM1 | c.376_378delinsCTA (p.Ile126Leu) c.268_270delinsCTA (p.Ile90Leu) c.379_381delinsCTA (p.Ile127Leu) c.248_250delinsCTA (n.248_250delinsCTA) c.*17_*19delinsCTA (n.*17_*19delinsCTA) n.2506_2508delinsCTA n.428_430delinsCTA n.302_304delinsCTA c.178_180delinsCTA (p.Ile60Leu) | |
14 | g.90404469_90404471delinsCTG | CA2579771638 | CALM1 | c.376_378delinsCTG (p.Ile126Leu) c.268_270delinsCTG (p.Ile90Leu) c.379_381delinsCTG (p.Ile127Leu) c.248_250delinsCTG (n.248_250delinsCTG) c.*17_*19delinsCTG (n.*17_*19delinsCTG) n.2506_2508delinsCTG n.428_430delinsCTG n.302_304delinsCTG c.178_180delinsCTG (p.Ile60Leu) | |
14 | g.90404469_90404471delinsCTT | CA2579774180 | CALM1 | c.376_378delinsCTT (p.Ile126Leu) c.268_270delinsCTT (p.Ile90Leu) c.379_381delinsCTT (p.Ile127Leu) c.248_250delinsCTT (n.248_250delinsCTT) c.*17_*19delinsCTT (n.*17_*19delinsCTT) n.2506_2508delinsCTT n.428_430delinsCTT n.302_304delinsCTT c.178_180delinsCTT (p.Ile60Leu) | |
14 | g.90404469_90404471delinsGAG | CA2579772374 | CALM1 | c.376_378delinsGAG (p.Ile126Glu) c.268_270delinsGAG (p.Ile90Glu) c.379_381delinsGAG (p.Ile127Glu) c.248_250delinsGAG (n.248_250delinsGAG) c.*17_*19delinsGAG (n.*17_*19delinsGAG) n.2506_2508delinsGAG n.428_430delinsGAG n.302_304delinsGAG c.178_180delinsGAG (p.Ile60Glu) | |
14 | g.90404469_90404471delinsGCG | CA2579772092 | CALM1 | c.376_378delinsGCG (p.Ile126Ala) c.268_270delinsGCG (p.Ile90Ala) c.379_381delinsGCG (p.Ile127Ala) c.248_250delinsGCG (n.248_250delinsGCG) c.*17_*19delinsGCG (n.*17_*19delinsGCG) n.2506_2508delinsGCG n.428_430delinsGCG n.302_304delinsGCG c.178_180delinsGCG (p.Ile60Ala) | |
14 | g.90404469_90404471delinsGCT | CA2579772160 | CALM1 | c.376_378delinsGCT (p.Ile126Ala) c.268_270delinsGCT (p.Ile90Ala) c.379_381delinsGCT (p.Ile127Ala) c.248_250delinsGCT (n.248_250delinsGCT) c.*17_*19delinsGCT (n.*17_*19delinsGCT) n.2506_2508delinsGCT n.428_430delinsGCT n.302_304delinsGCT c.178_180delinsGCT (p.Ile60Ala) | |
14 | g.90404469_90404471delinsGGG | CA2579772593 | CALM1 | c.376_378delinsGGG (p.Ile126Gly) c.268_270delinsGGG (p.Ile90Gly) c.379_381delinsGGG (p.Ile127Gly) c.248_250delinsGGG (n.248_250delinsGGG) c.*17_*19delinsGGG (n.*17_*19delinsGGG) n.2506_2508delinsGGG n.428_430delinsGGG n.302_304delinsGGG c.178_180delinsGGG (p.Ile60Gly) | |
14 | g.90404469_90404471delinsGGT | CA2579772120 | CALM1 | c.376_378delinsGGT (p.Ile126Gly) c.268_270delinsGGT (p.Ile90Gly) c.379_381delinsGGT (p.Ile127Gly) c.248_250delinsGGT (n.248_250delinsGGT) c.*17_*19delinsGGT (n.*17_*19delinsGGT) n.2506_2508delinsGGT n.428_430delinsGGT n.302_304delinsGGT c.178_180delinsGGT (p.Ile60Gly) | |
14 | g.90404469_90404471delinsGTA | CA2579772072 | CALM1 | c.376_378delinsGTA (p.Ile126Val) c.268_270delinsGTA (p.Ile90Val) c.379_381delinsGTA (p.Ile127Val) c.248_250delinsGTA (n.248_250delinsGTA) c.*17_*19delinsGTA (n.*17_*19delinsGTA) n.2506_2508delinsGTA n.428_430delinsGTA n.302_304delinsGTA c.178_180delinsGTA (p.Ile60Val) | |
14 | g.90404469_90404471delinsGTG | CA2579770029 | CALM1 | c.376_378delinsGTG (p.Ile126Val) c.268_270delinsGTG (p.Ile90Val) c.379_381delinsGTG (p.Ile127Val) c.248_250delinsGTG (n.248_250delinsGTG) c.*17_*19delinsGTG (n.*17_*19delinsGTG) n.2506_2508delinsGTG n.428_430delinsGTG n.302_304delinsGTG c.178_180delinsGTG (p.Ile60Val) | |
14 | g.90404469_90404471delinsGTT | CA2579772196 | CALM1 | c.376_378delinsGTT (p.Ile126Val) c.268_270delinsGTT (p.Ile90Val) c.379_381delinsGTT (p.Ile127Val) c.248_250delinsGTT (n.248_250delinsGTT) c.*17_*19delinsGTT (n.*17_*19delinsGTT) n.2506_2508delinsGTT n.428_430delinsGTT n.302_304delinsGTT c.178_180delinsGTT (p.Ile60Val) | |
14 | g.90404469_90404471delinsTAG | CA2579771501 | CALM1 | c.376_378delinsTAG (p.Ile126Ter) c.268_270delinsTAG (p.Ile90Ter) c.379_381delinsTAG (p.Ile127Ter) c.248_250delinsTAG (n.248_250delinsTAG) c.*17_*19delinsTAG (n.*17_*19delinsTAG) n.2506_2508delinsTAG n.428_430delinsTAG n.302_304delinsTAG c.178_180delinsTAG (p.Ile60Ter) | |
14 | g.90404469_90404471delinsTGG | CA2579773202 | CALM1 | c.376_378delinsTGG (p.Ile126Trp) c.268_270delinsTGG (p.Ile90Trp) c.379_381delinsTGG (p.Ile127Trp) c.248_250delinsTGG (n.248_250delinsTGG) c.*17_*19delinsTGG (n.*17_*19delinsTGG) n.2506_2508delinsTGG n.428_430delinsTGG n.302_304delinsTGG c.178_180delinsTGG (p.Ile60Trp) | |
14 | g.90404469_90404471delinsTGT | CA2579770282 | CALM1 | c.376_378delinsTGT (p.Ile126Cys) c.268_270delinsTGT (p.Ile90Cys) c.379_381delinsTGT (p.Ile127Cys) c.248_250delinsTGT (n.248_250delinsTGT) c.*17_*19delinsTGT (n.*17_*19delinsTGT) n.2506_2508delinsTGT n.428_430delinsTGT n.302_304delinsTGT c.178_180delinsTGT (p.Ile60Cys) | |
14 | g.90404469_90404471delinsTTA | CA2579773878 | CALM1 | c.376_378delinsTTA (p.Ile126Leu) c.268_270delinsTTA (p.Ile90Leu) c.379_381delinsTTA (p.Ile127Leu) c.248_250delinsTTA (n.248_250delinsTTA) c.*17_*19delinsTTA (n.*17_*19delinsTTA) n.2506_2508delinsTTA n.428_430delinsTTA n.302_304delinsTTA c.178_180delinsTTA (p.Ile60Leu) | |
14 | g.90404469_90404471delinsTTG | CA2579771078 | CALM1 | c.376_378delinsTTG (p.Ile126Leu) c.268_270delinsTTG (p.Ile90Leu) c.379_381delinsTTG (p.Ile127Leu) c.248_250delinsTTG (n.248_250delinsTTG) c.*17_*19delinsTTG (n.*17_*19delinsTTG) n.2506_2508delinsTTG n.428_430delinsTTG n.302_304delinsTTG c.178_180delinsTTG (p.Ile60Leu) | |
14 | g.90404469_90404471delinsTTT | CA2579772494 | CALM1 | c.376_378delinsTTT (p.Ile126Phe) c.268_270delinsTTT (p.Ile90Phe) c.379_381delinsTTT (p.Ile127Phe) c.248_250delinsTTT (n.248_250delinsTTT) c.*17_*19delinsTTT (n.*17_*19delinsTTT) n.2506_2508delinsTTT n.428_430delinsTTT n.302_304delinsTTT c.178_180delinsTTT (p.Ile60Phe) | |
14 | g.90404470T>A | CA390690313 | CALM1 | c.377T>A (p.Ile126Asn) c.269T>A (p.Ile90Asn) c.380T>A (p.Ile127Asn) c.249T>A (n.249T>A) c.*18T>A (n.*18T>A) n.2507T>A n.429T>A n.303T>A c.179T>A (p.Ile60Asn) | |
14 | g.90404470T>C | CA390690314 | CALM1 | c.377T>C (p.Ile126Thr) c.269T>C (p.Ile90Thr) c.380T>C (p.Ile127Thr) c.249T>C (n.249T>C) c.*18T>C (n.*18T>C) n.2507T>C n.429T>C n.303T>C c.179T>C (p.Ile60Thr) | |
14 | g.90404470T>G | CA390690315 | CALM1 | c.377T>G (p.Ile126Ser) c.269T>G (p.Ile90Ser) c.380T>G (p.Ile127Ser) c.249T>G (n.249T>G) c.*18T>G (n.*18T>G) n.2507T>G n.429T>G n.303T>G c.179T>G (p.Ile60Ser) | |
14 | g.90404470_90404471delinsAA | CA2579773516 | CALM1 | c.377_378delinsAA (p.Ile126Lys) c.269_270delinsAA (p.Ile90Lys) c.380_381delinsAA (p.Ile127Lys) c.249_250delinsAA (n.249_250delinsAA) c.*18_*19delinsAA (n.*18_*19delinsAA) n.2507_2508delinsAA n.429_430delinsAA n.303_304delinsAA c.179_180delinsAA (p.Ile60Lys) | |
14 | g.90404470_90404471delinsAG | CA2579771714 | CALM1 | c.377_378delinsAG (p.Ile126Lys) c.269_270delinsAG (p.Ile90Lys) c.380_381delinsAG (p.Ile127Lys) c.249_250delinsAG (n.249_250delinsAG) c.*18_*19delinsAG (n.*18_*19delinsAG) n.2507_2508delinsAG n.429_430delinsAG n.303_304delinsAG c.179_180delinsAG (p.Ile60Lys) | |
14 | g.90404470_90404471delinsAT | CA2579773108 | CALM1 | c.377_378delinsAT (p.Ile126Asn) c.269_270delinsAT (p.Ile90Asn) c.380_381delinsAT (p.Ile127Asn) c.249_250delinsAT (n.249_250delinsAT) c.*18_*19delinsAT (n.*18_*19delinsAT) n.2507_2508delinsAT n.429_430delinsAT n.303_304delinsAT c.179_180delinsAT (p.Ile60Asn) | |
14 | g.90404470_90404471delinsCA | CA2579772034 | CALM1 | c.377_378delinsCA (p.Ile126Thr) c.269_270delinsCA (p.Ile90Thr) c.380_381delinsCA (p.Ile127Thr) c.249_250delinsCA (n.249_250delinsCA) c.*18_*19delinsCA (n.*18_*19delinsCA) n.2507_2508delinsCA n.429_430delinsCA n.303_304delinsCA c.179_180delinsCA (p.Ile60Thr) | |
14 | g.90404470_90404471delinsCG | CA2579773423 | CALM1 | c.377_378delinsCG (p.Ile126Thr) c.269_270delinsCG (p.Ile90Thr) c.380_381delinsCG (p.Ile127Thr) c.249_250delinsCG (n.249_250delinsCG) c.*18_*19delinsCG (n.*18_*19delinsCG) n.2507_2508delinsCG n.429_430delinsCG n.303_304delinsCG c.179_180delinsCG (p.Ile60Thr) | |
14 | g.90404470_90404471delinsCT | CA2579770978 | CALM1 | c.377_378delinsCT (p.Ile126Thr) c.269_270delinsCT (p.Ile90Thr) c.380_381delinsCT (p.Ile127Thr) c.249_250delinsCT (n.249_250delinsCT) c.*18_*19delinsCT (n.*18_*19delinsCT) n.2507_2508delinsCT n.429_430delinsCT n.303_304delinsCT c.179_180delinsCT (p.Ile60Thr) | |
14 | g.90404470_90404471delinsGA | CA2579770378 | CALM1 | c.377_378delinsGA (p.Ile126Arg) c.269_270delinsGA (p.Ile90Arg) c.380_381delinsGA (p.Ile127Arg) c.249_250delinsGA (n.249_250delinsGA) c.*18_*19delinsGA (n.*18_*19delinsGA) n.2507_2508delinsGA n.429_430delinsGA n.303_304delinsGA c.179_180delinsGA (p.Ile60Arg) | |
14 | g.90404470_90404471delinsGG | CA2579771182 | CALM1 | c.377_378delinsGG (p.Ile126Arg) c.269_270delinsGG (p.Ile90Arg) c.380_381delinsGG (p.Ile127Arg) c.249_250delinsGG (n.249_250delinsGG) c.*18_*19delinsGG (n.*18_*19delinsGG) n.2507_2508delinsGG n.429_430delinsGG n.303_304delinsGG c.179_180delinsGG (p.Ile60Arg) | |
14 | g.90404470_90404471delinsGT | CA2579774249 | CALM1 | c.377_378delinsGT (p.Ile126Ser) c.269_270delinsGT (p.Ile90Ser) c.380_381delinsGT (p.Ile127Ser) c.249_250delinsGT (n.249_250delinsGT) c.*18_*19delinsGT (n.*18_*19delinsGT) n.2507_2508delinsGT n.429_430delinsGT n.303_304delinsGT c.179_180delinsGT (p.Ile60Ser) | |
14 | g.90404471C>A | CA487760335 | CALM1 | c.378C>A (p.Ile126=) c.270C>A (p.Ile90=) c.381C>A (p.Ile127=) c.250C>A (n.250C>A) c.*19C>A (n.*19C>A) n.2508C>A n.430C>A n.304C>A c.180C>A (p.Ile60=) | |
14 | g.90404471C>G | CA390690316 | CALM1 | c.378C>G (p.Ile126Met) c.270C>G (p.Ile90Met) c.381C>G (p.Ile127Met) c.250C>G (n.250C>G) c.*19C>G (n.*19C>G) n.2508C>G n.430C>G n.304C>G c.180C>G (p.Ile60Met) | |
14 | g.90404471C>T | CA487760334 | CALM1 | c.378C>T (p.Ile126=) c.270C>T (p.Ile90=) c.381C>T (p.Ile127=) c.250C>T (n.250C>T) c.*19C>T (n.*19C>T) n.2508C>T n.430C>T n.304C>T c.180C>T (p.Ile60=) | COSMIC |
14 | g.90404472A>C | CA487760338 | CALM1 | c.379A>C (p.Arg127=) c.271A>C (p.Arg91=) c.382A>C (p.Arg128=) c.251A>C (n.251A>C) c.*20A>C (n.*20A>C) n.2509A>C n.431A>C n.305A>C c.181A>C (p.Arg61=) | gnomAD v4 |
14 | g.90404472A>G | CA390690317 | CALM1 | c.379A>G (p.Arg127Gly) c.271A>G (p.Arg91Gly) c.382A>G (p.Arg128Gly) c.251A>G (n.251A>G) c.*20A>G (n.*20A>G) n.2509A>G n.431A>G n.305A>G c.181A>G (p.Arg61Gly) | |
14 | g.90404472A>T | CA390690318 | CALM1 | c.379A>T (p.Arg127Ter) c.271A>T (p.Arg91Ter) c.382A>T (p.Arg128Ter) c.251A>T (n.251A>T) c.*20A>T (n.*20A>T) n.2509A>T n.431A>T n.305A>T c.181A>T (p.Arg61Ter) | |
14 | g.90404472_90404473delinsCA | CA2579769799 | CALM1 | c.379_380delinsCA (p.Arg127Gln) c.271_272delinsCA (p.Arg91Gln) c.382_383delinsCA (p.Arg128Gln) c.251_252delinsCA (n.251_252delinsCA) c.*20_*21delinsCA (n.*20_*21delinsCA) n.2509_2510delinsCA n.431_432delinsCA n.305_306delinsCA c.181_182delinsCA (p.Arg61Gln) | |
14 | g.90404472_90404473delinsCC | CA2579770845 | CALM1 | c.379_380delinsCC (p.Arg127Pro) c.271_272delinsCC (p.Arg91Pro) c.382_383delinsCC (p.Arg128Pro) c.251_252delinsCC (n.251_252delinsCC) c.*20_*21delinsCC (n.*20_*21delinsCC) n.2509_2510delinsCC n.431_432delinsCC n.305_306delinsCC c.181_182delinsCC (p.Arg61Pro) | |
14 | g.90404472_90404473delinsCT | CA2579772130 | CALM1 | c.379_380delinsCT (p.Arg127Leu) c.271_272delinsCT (p.Arg91Leu) c.382_383delinsCT (p.Arg128Leu) c.251_252delinsCT (n.251_252delinsCT) c.*20_*21delinsCT (n.*20_*21delinsCT) n.2509_2510delinsCT n.431_432delinsCT n.305_306delinsCT c.181_182delinsCT (p.Arg61Leu) | |
14 | g.90404472_90404473delinsGA | CA2579773635 | CALM1 | c.379_380delinsGA (p.Arg127Glu) c.271_272delinsGA (p.Arg91Glu) c.382_383delinsGA (p.Arg128Glu) c.251_252delinsGA (n.251_252delinsGA) c.*20_*21delinsGA (n.*20_*21delinsGA) n.2509_2510delinsGA n.431_432delinsGA n.305_306delinsGA c.181_182delinsGA (p.Arg61Glu) | |
14 | g.90404472_90404473delinsGC | CA2579773442 | CALM1 | c.379_380delinsGC (p.Arg127Ala) c.271_272delinsGC (p.Arg91Ala) c.382_383delinsGC (p.Arg128Ala) c.251_252delinsGC (n.251_252delinsGC) c.*20_*21delinsGC (n.*20_*21delinsGC) n.2509_2510delinsGC n.431_432delinsGC n.305_306delinsGC c.181_182delinsGC (p.Arg61Ala) | |
14 | g.90404472_90404473delinsGT | CA2579770684 | CALM1 | c.379_380delinsGT (p.Arg127Val) c.271_272delinsGT (p.Arg91Val) c.382_383delinsGT (p.Arg128Val) c.251_252delinsGT (n.251_252delinsGT) c.*20_*21delinsGT (n.*20_*21delinsGT) n.2509_2510delinsGT n.431_432delinsGT n.305_306delinsGT c.181_182delinsGT (p.Arg61Val) | |
14 | g.90404472_90404473delinsTA | CA2579772488 | CALM1 | c.379_380delinsTA (p.Arg127Ter) c.271_272delinsTA (p.Arg91Ter) c.382_383delinsTA (p.Arg128Ter) c.251_252delinsTA (n.251_252delinsTA) c.*20_*21delinsTA (n.*20_*21delinsTA) n.2509_2510delinsTA n.431_432delinsTA n.305_306delinsTA c.181_182delinsTA (p.Arg61Ter) | |
14 | g.90404472_90404473delinsTC | CA2579772110 | CALM1 | c.379_380delinsTC (p.Arg127Ser) c.271_272delinsTC (p.Arg91Ser) c.382_383delinsTC (p.Arg128Ser) c.251_252delinsTC (n.251_252delinsTC) c.*20_*21delinsTC (n.*20_*21delinsTC) n.2509_2510delinsTC n.431_432delinsTC n.305_306delinsTC c.181_182delinsTC (p.Arg61Ser) | |
14 | g.90404472_90404473delinsTT | CA2579772530 | CALM1 | c.379_380delinsTT (p.Arg127Leu) c.271_272delinsTT (p.Arg91Leu) c.382_383delinsTT (p.Arg128Leu) c.251_252delinsTT (n.251_252delinsTT) c.*20_*21delinsTT (n.*20_*21delinsTT) n.2509_2510delinsTT n.431_432delinsTT n.305_306delinsTT c.181_182delinsTT (p.Arg61Leu) | |
14 | g.90404472_90404474delinsCAT | CA2579771858 | CALM1 | c.379_381delinsCAT (p.Arg127His) c.271_273delinsCAT (p.Arg91His) c.382_384delinsCAT (p.Arg128His) c.251_253delinsCAT (n.251_253delinsCAT) c.*20_*22delinsCAT (n.*20_*22delinsCAT) n.2509_2511delinsCAT n.431_433delinsCAT n.305_307delinsCAT c.181_183delinsCAT (p.Arg61His) | |
14 | g.90404472_90404474delinsCCG | CA2579771018 | CALM1 | c.379_381delinsCCG (p.Arg127Pro) c.271_273delinsCCG (p.Arg91Pro) c.382_384delinsCCG (p.Arg128Pro) c.251_253delinsCCG (n.251_253delinsCCG) c.*20_*22delinsCCG (n.*20_*22delinsCCG) n.2509_2511delinsCCG n.431_433delinsCCG n.305_307delinsCCG c.181_183delinsCCG (p.Arg61Pro) | |
14 | g.90404472_90404474delinsCCT | CA2579773754 | CALM1 | c.379_381delinsCCT (p.Arg127Pro) c.271_273delinsCCT (p.Arg91Pro) c.382_384delinsCCT (p.Arg128Pro) c.251_253delinsCCT (n.251_253delinsCCT) c.*20_*22delinsCCT (n.*20_*22delinsCCT) n.2509_2511delinsCCT n.431_433delinsCCT n.305_307delinsCCT c.181_183delinsCCT (p.Arg61Pro) | |
14 | g.90404472_90404474delinsCGG | CA2579774266 | CALM1 | c.379_381delinsCGG (p.Arg127=) c.271_273delinsCGG (p.Arg91=) c.382_384delinsCGG (p.Arg128=) c.251_253delinsCGG (n.251_253delinsCGG) c.*20_*22delinsCGG (n.*20_*22delinsCGG) n.2509_2511delinsCGG n.431_433delinsCGG n.305_307delinsCGG c.181_183delinsCGG (p.Arg61=) | |
14 | g.90404472_90404474delinsCGT | CA2579772527 | CALM1 | c.379_381delinsCGT (p.Arg127=) c.271_273delinsCGT (p.Arg91=) c.382_384delinsCGT (p.Arg128=) c.251_253delinsCGT (n.251_253delinsCGT) c.*20_*22delinsCGT (n.*20_*22delinsCGT) n.2509_2511delinsCGT n.431_433delinsCGT n.305_307delinsCGT c.181_183delinsCGT (p.Arg61=) | |
14 | g.90404472_90404474delinsCTG | CA2579774032 | CALM1 | c.379_381delinsCTG (p.Arg127Leu) c.271_273delinsCTG (p.Arg91Leu) c.382_384delinsCTG (p.Arg128Leu) c.251_253delinsCTG (n.251_253delinsCTG) c.*20_*22delinsCTG (n.*20_*22delinsCTG) n.2509_2511delinsCTG n.431_433delinsCTG n.305_307delinsCTG c.181_183delinsCTG (p.Arg61Leu) | |
14 | g.90404472_90404474delinsCTT | CA2579773715 | CALM1 | c.379_381delinsCTT (p.Arg127Leu) c.271_273delinsCTT (p.Arg91Leu) c.382_384delinsCTT (p.Arg128Leu) c.251_253delinsCTT (n.251_253delinsCTT) c.*20_*22delinsCTT (n.*20_*22delinsCTT) n.2509_2511delinsCTT n.431_433delinsCTT n.305_307delinsCTT c.181_183delinsCTT (p.Arg61Leu) | |
14 | g.90404472_90404474delinsGCG | CA2579770823 | CALM1 | c.379_381delinsGCG (p.Arg127Ala) c.271_273delinsGCG (p.Arg91Ala) c.382_384delinsGCG (p.Arg128Ala) c.251_253delinsGCG (n.251_253delinsGCG) c.*20_*22delinsGCG (n.*20_*22delinsGCG) n.2509_2511delinsGCG n.431_433delinsGCG n.305_307delinsGCG c.181_183delinsGCG (p.Arg61Ala) | |
14 | g.90404472_90404474delinsGCT | CA2579770491 | CALM1 | c.379_381delinsGCT (p.Arg127Ala) c.271_273delinsGCT (p.Arg91Ala) c.382_384delinsGCT (p.Arg128Ala) c.251_253delinsGCT (n.251_253delinsGCT) c.*20_*22delinsGCT (n.*20_*22delinsGCT) n.2509_2511delinsGCT n.431_433delinsGCT n.305_307delinsGCT c.181_183delinsGCT (p.Arg61Ala) | |
14 | g.90404472_90404474delinsGGG | CA2579770795 | CALM1 | c.379_381delinsGGG (p.Arg127Gly) c.271_273delinsGGG (p.Arg91Gly) c.382_384delinsGGG (p.Arg128Gly) c.251_253delinsGGG (n.251_253delinsGGG) c.*20_*22delinsGGG (n.*20_*22delinsGGG) n.2509_2511delinsGGG n.431_433delinsGGG n.305_307delinsGGG c.181_183delinsGGG (p.Arg61Gly) | |
14 | g.90404472_90404474delinsGGT | CA2579770444 | CALM1 | c.379_381delinsGGT (p.Arg127Gly) c.271_273delinsGGT (p.Arg91Gly) c.382_384delinsGGT (p.Arg128Gly) c.251_253delinsGGT (n.251_253delinsGGT) c.*20_*22delinsGGT (n.*20_*22delinsGGT) n.2509_2511delinsGGT n.431_433delinsGGT n.305_307delinsGGT c.181_183delinsGGT (p.Arg61Gly) | |
14 | g.90404472_90404474delinsGTG | CA2579769809 | CALM1 | c.379_381delinsGTG (p.Arg127Val) c.271_273delinsGTG (p.Arg91Val) c.382_384delinsGTG (p.Arg128Val) c.251_253delinsGTG (n.251_253delinsGTG) c.*20_*22delinsGTG (n.*20_*22delinsGTG) n.2509_2511delinsGTG n.431_433delinsGTG n.305_307delinsGTG c.181_183delinsGTG (p.Arg61Val) | |
14 | g.90404472_90404474delinsGTT | CA2579772074 | CALM1 | c.379_381delinsGTT (p.Arg127Val) c.271_273delinsGTT (p.Arg91Val) c.382_384delinsGTT (p.Arg128Val) c.251_253delinsGTT (n.251_253delinsGTT) c.*20_*22delinsGTT (n.*20_*22delinsGTT) n.2509_2511delinsGTT n.431_433delinsGTT n.305_307delinsGTT c.181_183delinsGTT (p.Arg61Val) | |
14 | g.90404472_90404474delinsTAT | CA2579772904 | CALM1 | c.379_381delinsTAT (p.Arg127Tyr) c.271_273delinsTAT (p.Arg91Tyr) c.382_384delinsTAT (p.Arg128Tyr) c.251_253delinsTAT (n.251_253delinsTAT) c.*20_*22delinsTAT (n.*20_*22delinsTAT) n.2509_2511delinsTAT n.431_433delinsTAT n.305_307delinsTAT c.181_183delinsTAT (p.Arg61Tyr) | |
14 | g.90404472_90404474delinsTCG | CA2579770489 | CALM1 | c.379_381delinsTCG (p.Arg127Ser) c.271_273delinsTCG (p.Arg91Ser) c.382_384delinsTCG (p.Arg128Ser) c.251_253delinsTCG (n.251_253delinsTCG) c.*20_*22delinsTCG (n.*20_*22delinsTCG) n.2509_2511delinsTCG n.431_433delinsTCG n.305_307delinsTCG c.181_183delinsTCG (p.Arg61Ser) | |
14 | g.90404472_90404474delinsTCT | CA2579771476 | CALM1 | c.379_381delinsTCT (p.Arg127Ser) c.271_273delinsTCT (p.Arg91Ser) c.382_384delinsTCT (p.Arg128Ser) c.251_253delinsTCT (n.251_253delinsTCT) c.*20_*22delinsTCT (n.*20_*22delinsTCT) n.2509_2511delinsTCT n.431_433delinsTCT n.305_307delinsTCT c.181_183delinsTCT (p.Arg61Ser) | |
14 | g.90404472_90404474delinsTGG | CA2579773473 | CALM1 | c.379_381delinsTGG (p.Arg127Trp) c.271_273delinsTGG (p.Arg91Trp) c.382_384delinsTGG (p.Arg128Trp) c.251_253delinsTGG (n.251_253delinsTGG) c.*20_*22delinsTGG (n.*20_*22delinsTGG) n.2509_2511delinsTGG n.431_433delinsTGG n.305_307delinsTGG c.181_183delinsTGG (p.Arg61Trp) | |
14 | g.90404472_90404474delinsTGT | CA2579771960 | CALM1 | c.379_381delinsTGT (p.Arg127Cys) c.271_273delinsTGT (p.Arg91Cys) c.382_384delinsTGT (p.Arg128Cys) c.251_253delinsTGT (n.251_253delinsTGT) c.*20_*22delinsTGT (n.*20_*22delinsTGT) n.2509_2511delinsTGT n.431_433delinsTGT n.305_307delinsTGT c.181_183delinsTGT (p.Arg61Cys) | |
14 | g.90404472_90404474delinsTTG | CA2579773834 | CALM1 | c.379_381delinsTTG (p.Arg127Leu) c.271_273delinsTTG (p.Arg91Leu) c.382_384delinsTTG (p.Arg128Leu) c.251_253delinsTTG (n.251_253delinsTTG) c.*20_*22delinsTTG (n.*20_*22delinsTTG) n.2509_2511delinsTTG n.431_433delinsTTG n.305_307delinsTTG c.181_183delinsTTG (p.Arg61Leu) | |
14 | g.90404472_90404474delinsTTT | CA2579770756 | CALM1 | c.379_381delinsTTT (p.Arg127Phe) c.271_273delinsTTT (p.Arg91Phe) c.382_384delinsTTT (p.Arg128Phe) c.251_253delinsTTT (n.251_253delinsTTT) c.*20_*22delinsTTT (n.*20_*22delinsTTT) n.2509_2511delinsTTT n.431_433delinsTTT n.305_307delinsTTT c.181_183delinsTTT (p.Arg61Phe) | |
14 | g.90404473G>A | CA390690319 | CALM1 | c.380G>A (p.Arg127Lys) c.272G>A (p.Arg91Lys) c.383G>A (p.Arg128Lys) c.252G>A (n.252G>A) c.*21G>A (n.*21G>A) n.2510G>A n.432G>A n.306G>A c.182G>A (p.Arg61Lys) | |
14 | g.90404473G>C | CA390690320 | CALM1 | c.380G>C (p.Arg127Thr) c.272G>C (p.Arg91Thr) c.383G>C (p.Arg128Thr) c.252G>C (n.252G>C) c.*21G>C (n.*21G>C) n.2510G>C n.432G>C n.306G>C c.182G>C (p.Arg61Thr) | |
14 | g.90404473G>T | CA390690321 | CALM1 | c.380G>T (p.Arg127Ile) c.272G>T (p.Arg91Ile) c.383G>T (p.Arg128Ile) c.252G>T (n.252G>T) c.*21G>T (n.*21G>T) n.2510G>T n.432G>T n.306G>T c.182G>T (p.Arg61Ile) | |
14 | g.90404473_90404474delinsAC | CA2579771267 | CALM1 | c.380_381delinsAC (p.Arg127Asn) c.272_273delinsAC (p.Arg91Asn) c.383_384delinsAC (p.Arg128Asn) c.252_253delinsAC (n.252_253delinsAC) c.*21_*22delinsAC (n.*21_*22delinsAC) n.2510_2511delinsAC n.432_433delinsAC n.306_307delinsAC c.182_183delinsAC (p.Arg61Asn) | |
14 | g.90404473_90404474delinsAG | CA2579772737 | CALM1 | c.380_381delinsAG (p.Arg127Lys) c.272_273delinsAG (p.Arg91Lys) c.383_384delinsAG (p.Arg128Lys) c.252_253delinsAG (n.252_253delinsAG) c.*21_*22delinsAG (n.*21_*22delinsAG) n.2510_2511delinsAG n.432_433delinsAG n.306_307delinsAG c.182_183delinsAG (p.Arg61Lys) | |
14 | g.90404473_90404474delinsAT | CA2579772552 | CALM1 | c.380_381delinsAT (p.Arg127Asn) c.272_273delinsAT (p.Arg91Asn) c.383_384delinsAT (p.Arg128Asn) c.252_253delinsAT (n.252_253delinsAT) c.*21_*22delinsAT (n.*21_*22delinsAT) n.2510_2511delinsAT n.432_433delinsAT n.306_307delinsAT c.182_183delinsAT (p.Arg61Asn) | |
14 | g.90404473_90404474delinsCC | CA2579770731 | CALM1 | c.380_381delinsCC (p.Arg127Thr) c.272_273delinsCC (p.Arg91Thr) c.383_384delinsCC (p.Arg128Thr) c.252_253delinsCC (n.252_253delinsCC) c.*21_*22delinsCC (n.*21_*22delinsCC) n.2510_2511delinsCC n.432_433delinsCC n.306_307delinsCC c.182_183delinsCC (p.Arg61Thr) | |
14 | g.90404473_90404474delinsCG | CA2579771496 | CALM1 | c.380_381delinsCG (p.Arg127Thr) c.272_273delinsCG (p.Arg91Thr) c.383_384delinsCG (p.Arg128Thr) c.252_253delinsCG (n.252_253delinsCG) c.*21_*22delinsCG (n.*21_*22delinsCG) n.2510_2511delinsCG n.432_433delinsCG n.306_307delinsCG c.182_183delinsCG (p.Arg61Thr) | |
14 | g.90404473_90404474delinsCT | CA2579774318 | CALM1 | c.380_381delinsCT (p.Arg127Thr) c.272_273delinsCT (p.Arg91Thr) c.383_384delinsCT (p.Arg128Thr) c.252_253delinsCT (n.252_253delinsCT) c.*21_*22delinsCT (n.*21_*22delinsCT) n.2510_2511delinsCT n.432_433delinsCT n.306_307delinsCT c.182_183delinsCT (p.Arg61Thr) | |
14 | g.90404473_90404474delinsTC | CA2579772958 | CALM1 | c.380_381delinsTC (p.Arg127Ile) c.272_273delinsTC (p.Arg91Ile) c.383_384delinsTC (p.Arg128Ile) c.252_253delinsTC (n.252_253delinsTC) c.*21_*22delinsTC (n.*21_*22delinsTC) n.2510_2511delinsTC n.432_433delinsTC n.306_307delinsTC c.182_183delinsTC (p.Arg61Ile) | |
14 | g.90404473_90404474delinsTG | CA2579769882 | CALM1 | c.380_381delinsTG (p.Arg127Met) c.272_273delinsTG (p.Arg91Met) c.383_384delinsTG (p.Arg128Met) c.252_253delinsTG (n.252_253delinsTG) c.*21_*22delinsTG (n.*21_*22delinsTG) n.2510_2511delinsTG n.432_433delinsTG n.306_307delinsTG c.182_183delinsTG (p.Arg61Met) | |
14 | g.90404473_90404474delinsTT | CA2579770691 | CALM1 | c.380_381delinsTT (p.Arg127Ile) c.272_273delinsTT (p.Arg91Ile) c.383_384delinsTT (p.Arg128Ile) c.252_253delinsTT (n.252_253delinsTT) c.*21_*22delinsTT (n.*21_*22delinsTT) n.2510_2511delinsTT n.432_433delinsTT n.306_307delinsTT c.182_183delinsTT (p.Arg61Ile) | |
14 | g.90404474A= | CA2154484151 | CALM1 | c.381A= (p.Arg127=) c.273A= (p.Arg91=) c.384A= (p.Arg128=) c.253A= (n.253A=) c.*22A= (n.*22A=) n.2511A= n.433A= n.307A= c.183A= (p.Arg61=) | |
14 | g.90404474A>C | CA390690322 | CALM1 | c.381A>C (p.Arg127Ser) c.273A>C (p.Arg91Ser) c.384A>C (p.Arg128Ser) c.253A>C (n.253A>C) c.*22A>C (n.*22A>C) n.2511A>C n.433A>C n.307A>C c.183A>C (p.Arg61Ser) | |
14 | g.90404474A>G | CA487760346 | CALM1 | c.381A>G (p.Arg127=) c.273A>G (p.Arg91=) c.384A>G (p.Arg128=) c.253A>G (n.253A>G) c.*22A>G (n.*22A>G) n.2511A>G n.433A>G n.307A>G c.183A>G (p.Arg61=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.90404474A>T | CA390690323 | CALM1 | c.381A>T (p.Arg127Ser) c.273A>T (p.Arg91Ser) c.384A>T (p.Arg128Ser) c.253A>T (n.253A>T) c.*22A>T (n.*22A>T) n.2511A>T n.433A>T n.307A>T c.183A>T (p.Arg61Ser) | |
14 | g.90404475G>A | CA390690324 | CALM1 | c.382G>A (p.Glu128Lys) c.274G>A (p.Glu92Lys) c.385G>A (p.Glu129Lys) c.254G>A (n.254G>A) c.*23G>A (n.*23G>A) n.2512G>A n.434G>A n.308G>A c.184G>A (p.Glu62Lys) | |
14 | g.90404475G>C | CA390690325 | CALM1 | c.382G>C (p.Glu128Gln) c.274G>C (p.Glu92Gln) c.385G>C (p.Glu129Gln) c.254G>C (n.254G>C) c.*23G>C (n.*23G>C) n.2512G>C n.434G>C n.308G>C c.184G>C (p.Glu62Gln) | |
14 | g.90404475G>T | CA390690326 | CALM1 | c.382G>T (p.Glu128Ter) c.274G>T (p.Glu92Ter) c.385G>T (p.Glu129Ter) c.254G>T (n.254G>T) c.*23G>T (n.*23G>T) n.2512G>T n.434G>T n.308G>T c.184G>T (p.Glu62Ter) | |
14 | g.90404475_90404476delinsAC | CA2579774196 | CALM1 | c.382_383delinsAC (p.Glu128Thr) c.274_275delinsAC (p.Glu92Thr) c.385_386delinsAC (p.Glu129Thr) c.254_255delinsAC (n.254_255delinsAC) c.*23_*24delinsAC (n.*23_*24delinsAC) n.2512_2513delinsAC n.434_435delinsAC n.308_309delinsAC c.184_185delinsAC (p.Glu62Thr) | |
14 | g.90404475_90404476delinsAG | CA2579773326 | CALM1 | c.382_383delinsAG (p.Glu128Arg) c.274_275delinsAG (p.Glu92Arg) c.385_386delinsAG (p.Glu129Arg) c.254_255delinsAG (n.254_255delinsAG) c.*23_*24delinsAG (n.*23_*24delinsAG) n.2512_2513delinsAG n.434_435delinsAG n.308_309delinsAG c.184_185delinsAG (p.Glu62Arg) | |
14 | g.90404475_90404476delinsAT | CA2579771572 | CALM1 | c.382_383delinsAT (p.Glu128Ile) c.274_275delinsAT (p.Glu92Ile) c.385_386delinsAT (p.Glu129Ile) c.254_255delinsAT (n.254_255delinsAT) c.*23_*24delinsAT (n.*23_*24delinsAT) n.2512_2513delinsAT n.434_435delinsAT n.308_309delinsAT c.184_185delinsAT (p.Glu62Ile) | |
14 | g.90404475_90404476delinsCC | CA2579773680 | CALM1 | c.382_383delinsCC (p.Glu128Pro) c.274_275delinsCC (p.Glu92Pro) c.385_386delinsCC (p.Glu129Pro) c.254_255delinsCC (n.254_255delinsCC) c.*23_*24delinsCC (n.*23_*24delinsCC) n.2512_2513delinsCC n.434_435delinsCC n.308_309delinsCC c.184_185delinsCC (p.Glu62Pro) | |
14 | g.90404475_90404476delinsCG | CA2579770354 | CALM1 | c.382_383delinsCG (p.Glu128Arg) c.274_275delinsCG (p.Glu92Arg) c.385_386delinsCG (p.Glu129Arg) c.254_255delinsCG (n.254_255delinsCG) c.*23_*24delinsCG (n.*23_*24delinsCG) n.2512_2513delinsCG n.434_435delinsCG n.308_309delinsCG c.184_185delinsCG (p.Glu62Arg) | |
14 | g.90404475_90404476delinsCT | CA2579771221 | CALM1 | c.382_383delinsCT (p.Glu128Leu) c.274_275delinsCT (p.Glu92Leu) c.385_386delinsCT (p.Glu129Leu) c.254_255delinsCT (n.254_255delinsCT) c.*23_*24delinsCT (n.*23_*24delinsCT) n.2512_2513delinsCT n.434_435delinsCT n.308_309delinsCT c.184_185delinsCT (p.Glu62Leu) | |
14 | g.90404475_90404476delinsTC | CA2579769821 | CALM1 | c.382_383delinsTC (p.Glu128Ser) c.274_275delinsTC (p.Glu92Ser) c.385_386delinsTC (p.Glu129Ser) c.254_255delinsTC (n.254_255delinsTC) c.*23_*24delinsTC (n.*23_*24delinsTC) n.2512_2513delinsTC n.434_435delinsTC n.308_309delinsTC c.184_185delinsTC (p.Glu62Ser) | |
14 | g.90404475_90404476delinsTG | CA2579771970 | CALM1 | c.382_383delinsTG (p.Glu128Ter) c.274_275delinsTG (p.Glu92Ter) c.385_386delinsTG (p.Glu129Ter) c.254_255delinsTG (n.254_255delinsTG) c.*23_*24delinsTG (n.*23_*24delinsTG) n.2512_2513delinsTG n.434_435delinsTG n.308_309delinsTG c.184_185delinsTG (p.Glu62Ter) | |
14 | g.90404475_90404476delinsTT | CA2579773357 | CALM1 | c.382_383delinsTT (p.Glu128Leu) c.274_275delinsTT (p.Glu92Leu) c.385_386delinsTT (p.Glu129Leu) c.254_255delinsTT (n.254_255delinsTT) c.*23_*24delinsTT (n.*23_*24delinsTT) n.2512_2513delinsTT n.434_435delinsTT n.308_309delinsTT c.184_185delinsTT (p.Glu62Leu) | |
14 | g.90404475_90404477delinsAAC | CA2579774183 | CALM1 | c.382_384delinsAAC (p.Glu128Asn) c.274_276delinsAAC (p.Glu92Asn) c.385_387delinsAAC (p.Glu129Asn) c.254_256delinsAAC (n.254_256delinsAAC) c.*23_*25delinsAAC (n.*23_*25delinsAAC) n.2512_2514delinsAAC n.434_436delinsAAC n.308_310delinsAAC c.184_186delinsAAC (p.Glu62Asn) | |
14 | g.90404475_90404477delinsAAG | CA2579774268 | CALM1 | c.382_384delinsAAG (p.Glu128Lys) c.274_276delinsAAG (p.Glu92Lys) c.385_387delinsAAG (p.Glu129Lys) c.254_256delinsAAG (n.254_256delinsAAG) c.*23_*25delinsAAG (n.*23_*25delinsAAG) n.2512_2514delinsAAG n.434_436delinsAAG n.308_310delinsAAG c.184_186delinsAAG (p.Glu62Lys) | |
14 | g.90404475_90404477delinsAAT | CA2579771832 | CALM1 | c.382_384delinsAAT (p.Glu128Asn) c.274_276delinsAAT (p.Glu92Asn) c.385_387delinsAAT (p.Glu129Asn) c.254_256delinsAAT (n.254_256delinsAAT) c.*23_*25delinsAAT (n.*23_*25delinsAAT) n.2512_2514delinsAAT n.434_436delinsAAT n.308_310delinsAAT c.184_186delinsAAT (p.Glu62Asn) | |
14 | g.90404475_90404477delinsACG | CA2579773869 | CALM1 | c.382_384delinsACG (p.Glu128Thr) c.274_276delinsACG (p.Glu92Thr) c.385_387delinsACG (p.Glu129Thr) c.254_256delinsACG (n.254_256delinsACG) c.*23_*25delinsACG (n.*23_*25delinsACG) n.2512_2514delinsACG n.434_436delinsACG n.308_310delinsACG c.184_186delinsACG (p.Glu62Thr) | |
14 | g.90404475_90404477delinsAGG | CA2579773589 | CALM1 | c.382_384delinsAGG (p.Glu128Arg) c.274_276delinsAGG (p.Glu92Arg) c.385_387delinsAGG (p.Glu129Arg) c.254_256delinsAGG (n.254_256delinsAGG) c.*23_*25delinsAGG (n.*23_*25delinsAGG) n.2512_2514delinsAGG n.434_436delinsAGG n.308_310delinsAGG c.184_186delinsAGG (p.Glu62Arg) | |
14 | g.90404475_90404477delinsAGT | CA2579772400 | CALM1 | c.382_384delinsAGT (p.Glu128Ser) c.274_276delinsAGT (p.Glu92Ser) c.385_387delinsAGT (p.Glu129Ser) c.254_256delinsAGT (n.254_256delinsAGT) c.*23_*25delinsAGT (n.*23_*25delinsAGT) n.2512_2514delinsAGT n.434_436delinsAGT n.308_310delinsAGT c.184_186delinsAGT (p.Glu62Ser) | |
14 | g.90404475_90404477delinsATG | CA2579773842 | CALM1 | c.382_384delinsATG (p.Glu128Met) c.274_276delinsATG (p.Glu92Met) c.385_387delinsATG (p.Glu129Met) c.254_256delinsATG (n.254_256delinsATG) c.*23_*25delinsATG (n.*23_*25delinsATG) n.2512_2514delinsATG n.434_436delinsATG n.308_310delinsATG c.184_186delinsATG (p.Glu62Met) | |
14 | g.90404475_90404477delinsATT | CA2579772153 | CALM1 | c.382_384delinsATT (p.Glu128Ile) c.274_276delinsATT (p.Glu92Ile) c.385_387delinsATT (p.Glu129Ile) c.254_256delinsATT (n.254_256delinsATT) c.*23_*25delinsATT (n.*23_*25delinsATT) n.2512_2514delinsATT n.434_436delinsATT n.308_310delinsATT c.184_186delinsATT (p.Glu62Ile) | |
14 | g.90404475_90404477delinsCAG | CA2579771020 | CALM1 | c.382_384delinsCAG (p.Glu128Gln) c.274_276delinsCAG (p.Glu92Gln) c.385_387delinsCAG (p.Glu129Gln) c.254_256delinsCAG (n.254_256delinsCAG) c.*23_*25delinsCAG (n.*23_*25delinsCAG) n.2512_2514delinsCAG n.434_436delinsCAG n.308_310delinsCAG c.184_186delinsCAG (p.Glu62Gln) | |
14 | g.90404475_90404477delinsCAT | CA2579773192 | CALM1 | c.382_384delinsCAT (p.Glu128His) c.274_276delinsCAT (p.Glu92His) c.385_387delinsCAT (p.Glu129His) c.254_256delinsCAT (n.254_256delinsCAT) c.*23_*25delinsCAT (n.*23_*25delinsCAT) n.2512_2514delinsCAT n.434_436delinsCAT n.308_310delinsCAT c.184_186delinsCAT (p.Glu62His) | |
14 | g.90404475_90404477delinsCCG | CA2579772721 | CALM1 | c.382_384delinsCCG (p.Glu128Pro) c.274_276delinsCCG (p.Glu92Pro) c.385_387delinsCCG (p.Glu129Pro) c.254_256delinsCCG (n.254_256delinsCCG) c.*23_*25delinsCCG (n.*23_*25delinsCCG) n.2512_2514delinsCCG n.434_436delinsCCG n.308_310delinsCCG c.184_186delinsCCG (p.Glu62Pro) | |
14 | g.90404475_90404477delinsCCT | CA2579773330 | CALM1 | c.382_384delinsCCT (p.Glu128Pro) c.274_276delinsCCT (p.Glu92Pro) c.385_387delinsCCT (p.Glu129Pro) c.254_256delinsCCT (n.254_256delinsCCT) c.*23_*25delinsCCT (n.*23_*25delinsCCT) n.2512_2514delinsCCT n.434_436delinsCCT n.308_310delinsCCT c.184_186delinsCCT (p.Glu62Pro) | |
14 | g.90404475_90404477delinsCGG | CA2579771940 | CALM1 | c.382_384delinsCGG (p.Glu128Arg) c.274_276delinsCGG (p.Glu92Arg) c.385_387delinsCGG (p.Glu129Arg) c.254_256delinsCGG (n.254_256delinsCGG) c.*23_*25delinsCGG (n.*23_*25delinsCGG) n.2512_2514delinsCGG n.434_436delinsCGG n.308_310delinsCGG c.184_186delinsCGG (p.Glu62Arg) | |
14 | g.90404475_90404477delinsCGT | CA2579772803 | CALM1 | c.382_384delinsCGT (p.Glu128Arg) c.274_276delinsCGT (p.Glu92Arg) c.385_387delinsCGT (p.Glu129Arg) c.254_256delinsCGT (n.254_256delinsCGT) c.*23_*25delinsCGT (n.*23_*25delinsCGT) n.2512_2514delinsCGT n.434_436delinsCGT n.308_310delinsCGT c.184_186delinsCGT (p.Glu62Arg) | |
14 | g.90404475_90404477delinsCTG | CA2579773852 | CALM1 | c.382_384delinsCTG (p.Glu128Leu) c.274_276delinsCTG (p.Glu92Leu) c.385_387delinsCTG (p.Glu129Leu) c.254_256delinsCTG (n.254_256delinsCTG) c.*23_*25delinsCTG (n.*23_*25delinsCTG) n.2512_2514delinsCTG n.434_436delinsCTG n.308_310delinsCTG c.184_186delinsCTG (p.Glu62Leu) | |
14 | g.90404475_90404477delinsCTT | CA2579773786 | CALM1 | c.382_384delinsCTT (p.Glu128Leu) c.274_276delinsCTT (p.Glu92Leu) c.385_387delinsCTT (p.Glu129Leu) c.254_256delinsCTT (n.254_256delinsCTT) c.*23_*25delinsCTT (n.*23_*25delinsCTT) n.2512_2514delinsCTT n.434_436delinsCTT n.308_310delinsCTT c.184_186delinsCTT (p.Glu62Leu) | |
14 | g.90404475_90404477delinsTAG | CA2579773673 | CALM1 | c.382_384delinsTAG (p.Glu128Ter) c.274_276delinsTAG (p.Glu92Ter) c.385_387delinsTAG (p.Glu129Ter) c.254_256delinsTAG (n.254_256delinsTAG) c.*23_*25delinsTAG (n.*23_*25delinsTAG) n.2512_2514delinsTAG n.434_436delinsTAG n.308_310delinsTAG c.184_186delinsTAG (p.Glu62Ter) | |
14 | g.90404475_90404477delinsTAT | CA2579769801 | CALM1 | c.382_384delinsTAT (p.Glu128Tyr) c.274_276delinsTAT (p.Glu92Tyr) c.385_387delinsTAT (p.Glu129Tyr) c.254_256delinsTAT (n.254_256delinsTAT) c.*23_*25delinsTAT (n.*23_*25delinsTAT) n.2512_2514delinsTAT n.434_436delinsTAT n.308_310delinsTAT c.184_186delinsTAT (p.Glu62Tyr) | |
14 | g.90404475_90404477delinsTCG | CA2579772741 | CALM1 | c.382_384delinsTCG (p.Glu128Ser) c.274_276delinsTCG (p.Glu92Ser) c.385_387delinsTCG (p.Glu129Ser) c.254_256delinsTCG (n.254_256delinsTCG) c.*23_*25delinsTCG (n.*23_*25delinsTCG) n.2512_2514delinsTCG n.434_436delinsTCG n.308_310delinsTCG c.184_186delinsTCG (p.Glu62Ser) | |
14 | g.90404475_90404477delinsTCT | CA2579769806 | CALM1 | c.382_384delinsTCT (p.Glu128Ser) c.274_276delinsTCT (p.Glu92Ser) c.385_387delinsTCT (p.Glu129Ser) c.254_256delinsTCT (n.254_256delinsTCT) c.*23_*25delinsTCT (n.*23_*25delinsTCT) n.2512_2514delinsTCT n.434_436delinsTCT n.308_310delinsTCT c.184_186delinsTCT (p.Glu62Ser) | |
14 | g.90404475_90404477delinsTGG | CA2579773503 | CALM1 | c.382_384delinsTGG (p.Glu128Trp) c.274_276delinsTGG (p.Glu92Trp) c.385_387delinsTGG (p.Glu129Trp) c.254_256delinsTGG (n.254_256delinsTGG) c.*23_*25delinsTGG (n.*23_*25delinsTGG) n.2512_2514delinsTGG n.434_436delinsTGG n.308_310delinsTGG c.184_186delinsTGG (p.Glu62Trp) | |
14 | g.90404475_90404477delinsTGT | CA2579770191 | CALM1 | c.382_384delinsTGT (p.Glu128Cys) c.274_276delinsTGT (p.Glu92Cys) c.385_387delinsTGT (p.Glu129Cys) c.254_256delinsTGT (n.254_256delinsTGT) c.*23_*25delinsTGT (n.*23_*25delinsTGT) n.2512_2514delinsTGT n.434_436delinsTGT n.308_310delinsTGT c.184_186delinsTGT (p.Glu62Cys) | |
14 | g.90404475_90404477delinsTTG | CA2579769977 | CALM1 | c.382_384delinsTTG (p.Glu128Leu) c.274_276delinsTTG (p.Glu92Leu) c.385_387delinsTTG (p.Glu129Leu) c.254_256delinsTTG (n.254_256delinsTTG) c.*23_*25delinsTTG (n.*23_*25delinsTTG) n.2512_2514delinsTTG n.434_436delinsTTG n.308_310delinsTTG c.184_186delinsTTG (p.Glu62Leu) | |
14 | g.90404475_90404477delinsTTT | CA2579771203 | CALM1 | c.382_384delinsTTT (p.Glu128Phe) c.274_276delinsTTT (p.Glu92Phe) c.385_387delinsTTT (p.Glu129Phe) c.254_256delinsTTT (n.254_256delinsTTT) c.*23_*25delinsTTT (n.*23_*25delinsTTT) n.2512_2514delinsTTT n.434_436delinsTTT n.308_310delinsTTT c.184_186delinsTTT (p.Glu62Phe) | |
14 | g.90404476A>C | CA390690327 | CALM1 | c.383A>C (p.Glu128Ala) c.275A>C (p.Glu92Ala) c.386A>C (p.Glu129Ala) c.255A>C (n.255A>C) c.*24A>C (n.*24A>C) n.2513A>C n.435A>C n.309A>C c.185A>C (p.Glu62Ala) | |
14 | g.90404476A>G | CA390690328 | CALM1 | c.383A>G (p.Glu128Gly) c.275A>G (p.Glu92Gly) c.386A>G (p.Glu129Gly) c.255A>G (n.255A>G) c.*24A>G (n.*24A>G) n.2513A>G n.435A>G n.309A>G c.185A>G (p.Glu62Gly) | |
14 | g.90404476A>T | CA390690329 | CALM1 | c.383A>T (p.Glu128Val) c.275A>T (p.Glu92Val) c.386A>T (p.Glu129Val) c.255A>T (n.255A>T) c.*24A>T (n.*24A>T) n.2513A>T n.435A>T n.309A>T c.185A>T (p.Glu62Val) | |
14 | g.90404476_90404477delinsCG | CA2579771866 | CALM1 | c.383_384delinsCG (p.Glu128Ala) c.275_276delinsCG (p.Glu92Ala) c.386_387delinsCG (p.Glu129Ala) c.255_256delinsCG (n.255_256delinsCG) c.*24_*25delinsCG (n.*24_*25delinsCG) n.2513_2514delinsCG n.435_436delinsCG n.309_310delinsCG c.185_186delinsCG (p.Glu62Ala) | |
14 | g.90404476_90404477delinsCT | CA2579769935 | CALM1 | c.383_384delinsCT (p.Glu128Ala) c.275_276delinsCT (p.Glu92Ala) c.386_387delinsCT (p.Glu129Ala) c.255_256delinsCT (n.255_256delinsCT) c.*24_*25delinsCT (n.*24_*25delinsCT) n.2513_2514delinsCT n.435_436delinsCT n.309_310delinsCT c.185_186delinsCT (p.Glu62Ala) | |
14 | g.90404476_90404477delinsGC | CA2579773407 | CALM1 | c.383_384delinsGC (p.Glu128Gly) c.275_276delinsGC (p.Glu92Gly) c.386_387delinsGC (p.Glu129Gly) c.255_256delinsGC (n.255_256delinsGC) c.*24_*25delinsGC (n.*24_*25delinsGC) n.2513_2514delinsGC n.435_436delinsGC n.309_310delinsGC c.185_186delinsGC (p.Glu62Gly) | |
14 | g.90404476_90404477delinsGG | CA2579772880 | CALM1 | c.383_384delinsGG (p.Glu128Gly) c.275_276delinsGG (p.Glu92Gly) c.386_387delinsGG (p.Glu129Gly) c.255_256delinsGG (n.255_256delinsGG) c.*24_*25delinsGG (n.*24_*25delinsGG) n.2513_2514delinsGG n.435_436delinsGG n.309_310delinsGG c.185_186delinsGG (p.Glu62Gly) | |
14 | g.90404476_90404477delinsGT | CA2579771039 | CALM1 | c.383_384delinsGT (p.Glu128Gly) c.275_276delinsGT (p.Glu92Gly) c.386_387delinsGT (p.Glu129Gly) c.255_256delinsGT (n.255_256delinsGT) c.*24_*25delinsGT (n.*24_*25delinsGT) n.2513_2514delinsGT n.435_436delinsGT n.309_310delinsGT c.185_186delinsGT (p.Glu62Gly) | |
14 | g.90404476_90404477delinsTG | CA2579769975 | CALM1 | c.383_384delinsTG (p.Glu128Val) c.275_276delinsTG (p.Glu92Val) c.386_387delinsTG (p.Glu129Val) c.255_256delinsTG (n.255_256delinsTG) c.*24_*25delinsTG (n.*24_*25delinsTG) n.2513_2514delinsTG n.435_436delinsTG n.309_310delinsTG c.185_186delinsTG (p.Glu62Val) | |
14 | g.90404476_90404477delinsTT | CA2579773009 | CALM1 | c.383_384delinsTT (p.Glu128Val) c.275_276delinsTT (p.Glu92Val) c.386_387delinsTT (p.Glu129Val) c.255_256delinsTT (n.255_256delinsTT) c.*24_*25delinsTT (n.*24_*25delinsTT) n.2513_2514delinsTT n.435_436delinsTT n.309_310delinsTT c.185_186delinsTT (p.Glu62Val) | |
14 | g.90404477A>C | CA390690331 | CALM1 | c.384A>C (p.Glu128Asp) c.276A>C (p.Glu92Asp) c.387A>C (p.Glu129Asp) c.256A>C (n.256A>C) c.*25A>C (n.*25A>C) n.2514A>C n.436A>C n.310A>C c.186A>C (p.Glu62Asp) | |
14 | g.90404477A>G | CA487760356 | CALM1 | c.384A>G (p.Glu128=) c.276A>G (p.Glu92=) c.387A>G (p.Glu129=) c.256A>G (n.256A>G) c.*25A>G (n.*25A>G) n.2514A>G n.436A>G n.310A>G c.186A>G (p.Glu62=) | |
14 | g.90404477A>T | CA390690330 | CALM1 | c.384A>T (p.Glu128Asp) c.276A>T (p.Glu92Asp) c.387A>T (p.Glu129Asp) c.256A>T (n.256A>T) c.*25A>T (n.*25A>T) n.2514A>T n.436A>T n.310A>T c.186A>T (p.Glu62Asp) | |
14 | g.90404478G>A | CA390690332 | CALM1 | c.385G>A (p.Ala129Thr) c.277G>A (p.Ala93Thr) c.388G>A (p.Ala130Thr) c.257G>A (n.257G>A) c.*26G>A (n.*26G>A) n.2515G>A n.437G>A n.311G>A c.187G>A (p.Ala63Thr) | |
14 | g.90404478G>C | CA390690334 | CALM1 | c.385G>C (p.Ala129Pro) c.277G>C (p.Ala93Pro) c.388G>C (p.Ala130Pro) c.257G>C (n.257G>C) c.*26G>C (n.*26G>C) n.2515G>C n.437G>C n.311G>C c.187G>C (p.Ala63Pro) | |
14 | g.90404478G>T | CA390690333 | CALM1 | c.385G>T (p.Ala129Ser) c.277G>T (p.Ala93Ser) c.388G>T (p.Ala130Ser) c.257G>T (n.257G>T) c.*26G>T (n.*26G>T) n.2515G>T n.437G>T n.311G>T c.187G>T (p.Ala63Ser) | |
14 | g.90404478_90404479delinsAA | CA2579773528 | CALM1 | c.385_386delinsAA (p.Ala129Lys) c.277_278delinsAA (p.Ala93Lys) c.388_389delinsAA (p.Ala130Lys) c.257_258delinsAA (n.257_258delinsAA) c.*26_*27delinsAA (n.*26_*27delinsAA) n.2515_2516delinsAA n.437_438delinsAA n.311_312delinsAA c.187_188delinsAA (p.Ala63Lys) | |
14 | g.90404478_90404479delinsAG | CA2579773850 | CALM1 | c.385_386delinsAG (p.Ala129Arg) c.277_278delinsAG (p.Ala93Arg) c.388_389delinsAG (p.Ala130Arg) c.257_258delinsAG (n.257_258delinsAG) c.*26_*27delinsAG (n.*26_*27delinsAG) n.2515_2516delinsAG n.437_438delinsAG n.311_312delinsAG c.187_188delinsAG (p.Ala63Arg) | |
14 | g.90404478_90404479delinsAT | CA2579773092 | CALM1 | c.385_386delinsAT (p.Ala129Ile) c.277_278delinsAT (p.Ala93Ile) c.388_389delinsAT (p.Ala130Ile) c.257_258delinsAT (n.257_258delinsAT) c.*26_*27delinsAT (n.*26_*27delinsAT) n.2515_2516delinsAT n.437_438delinsAT n.311_312delinsAT c.187_188delinsAT (p.Ala63Ile) | |
14 | g.90404478_90404479delinsCG | CA2579773526 | CALM1 | c.385_386delinsCG (p.Ala129Arg) c.277_278delinsCG (p.Ala93Arg) c.388_389delinsCG (p.Ala130Arg) c.257_258delinsCG (n.257_258delinsCG) c.*26_*27delinsCG (n.*26_*27delinsCG) n.2515_2516delinsCG n.437_438delinsCG n.311_312delinsCG c.187_188delinsCG (p.Ala63Arg) | |
14 | g.90404478_90404479delinsCT | CA2579770076 | CALM1 | c.385_386delinsCT (p.Ala129Leu) c.277_278delinsCT (p.Ala93Leu) c.388_389delinsCT (p.Ala130Leu) c.257_258delinsCT (n.257_258delinsCT) c.*26_*27delinsCT (n.*26_*27delinsCT) n.2515_2516delinsCT n.437_438delinsCT n.311_312delinsCT c.187_188delinsCT (p.Ala63Leu) | |
14 | g.90404478_90404479delinsTA | CA2579771059 | CALM1 | c.385_386delinsTA (p.Ala129Ter) c.277_278delinsTA (p.Ala93Ter) c.388_389delinsTA (p.Ala130Ter) c.257_258delinsTA (n.257_258delinsTA) c.*26_*27delinsTA (n.*26_*27delinsTA) n.2515_2516delinsTA n.437_438delinsTA n.311_312delinsTA c.187_188delinsTA (p.Ala63Ter) | |
14 | g.90404478_90404479delinsTG | CA2579773303 | CALM1 | c.385_386delinsTG (p.Ala129Ter) c.277_278delinsTG (p.Ala93Ter) c.388_389delinsTG (p.Ala130Ter) c.257_258delinsTG (n.257_258delinsTG) c.*26_*27delinsTG (n.*26_*27delinsTG) n.2515_2516delinsTG n.437_438delinsTG n.311_312delinsTG c.187_188delinsTG (p.Ala63Ter) | |
14 | g.90404478_90404479delinsTT | CA2579772640 | CALM1 | c.385_386delinsTT (p.Ala129Leu) c.277_278delinsTT (p.Ala93Leu) c.388_389delinsTT (p.Ala130Leu) c.257_258delinsTT (n.257_258delinsTT) c.*26_*27delinsTT (n.*26_*27delinsTT) n.2515_2516delinsTT n.437_438delinsTT n.311_312delinsTT c.187_188delinsTT (p.Ala63Leu) | |
14 | g.90404478_90404480delinsAAG | CA2579769872 | CALM1 | c.385_387delinsAAG (p.Ala129Lys) c.277_279delinsAAG (p.Ala93Lys) c.388_390delinsAAG (p.Ala130Lys) c.257_259delinsAAG (n.257_259delinsAAG) c.*26_*28delinsAAG (n.*26_*28delinsAAG) n.2515_2517delinsAAG n.437_439delinsAAG n.311_313delinsAAG c.187_189delinsAAG (p.Ala63Lys) | |
14 | g.90404478_90404480delinsAAT | CA2579772898 | CALM1 | c.385_387delinsAAT (p.Ala129Asn) c.277_279delinsAAT (p.Ala93Asn) c.388_390delinsAAT (p.Ala130Asn) c.257_259delinsAAT (n.257_259delinsAAT) c.*26_*28delinsAAT (n.*26_*28delinsAAT) n.2515_2517delinsAAT n.437_439delinsAAT n.311_313delinsAAT c.187_189delinsAAT (p.Ala63Asn) | |
14 | g.90404478_90404480delinsACG | CA2579772468 | CALM1 | c.385_387delinsACG (p.Ala129Thr) c.277_279delinsACG (p.Ala93Thr) c.388_390delinsACG (p.Ala130Thr) c.257_259delinsACG (n.257_259delinsACG) c.*26_*28delinsACG (n.*26_*28delinsACG) n.2515_2517delinsACG n.437_439delinsACG n.311_313delinsACG c.187_189delinsACG (p.Ala63Thr) | |
14 | g.90404478_90404480delinsACT | CA2579772014 | CALM1 | c.385_387delinsACT (p.Ala129Thr) c.277_279delinsACT (p.Ala93Thr) c.388_390delinsACT (p.Ala130Thr) c.257_259delinsACT (n.257_259delinsACT) c.*26_*28delinsACT (n.*26_*28delinsACT) n.2515_2517delinsACT n.437_439delinsACT n.311_313delinsACT c.187_189delinsACT (p.Ala63Thr) | |
14 | g.90404478_90404480delinsAGG | CA2579771777 | CALM1 | c.385_387delinsAGG (p.Ala129Arg) c.277_279delinsAGG (p.Ala93Arg) c.388_390delinsAGG (p.Ala130Arg) c.257_259delinsAGG (n.257_259delinsAGG) c.*26_*28delinsAGG (n.*26_*28delinsAGG) n.2515_2517delinsAGG n.437_439delinsAGG n.311_313delinsAGG c.187_189delinsAGG (p.Ala63Arg) | |
14 | g.90404478_90404480delinsAGT | CA2579770286 | CALM1 | c.385_387delinsAGT (p.Ala129Ser) c.277_279delinsAGT (p.Ala93Ser) c.388_390delinsAGT (p.Ala130Ser) c.257_259delinsAGT (n.257_259delinsAGT) c.*26_*28delinsAGT (n.*26_*28delinsAGT) n.2515_2517delinsAGT n.437_439delinsAGT n.311_313delinsAGT c.187_189delinsAGT (p.Ala63Ser) | |
14 | g.90404478_90404480delinsATG | CA2579770091 | CALM1 | c.385_387delinsATG (p.Ala129Met) c.277_279delinsATG (p.Ala93Met) c.388_390delinsATG (p.Ala130Met) c.257_259delinsATG (n.257_259delinsATG) c.*26_*28delinsATG (n.*26_*28delinsATG) n.2515_2517delinsATG n.437_439delinsATG n.311_313delinsATG c.187_189delinsATG (p.Ala63Met) | |
14 | g.90404478_90404480delinsATT | CA2579770902 | CALM1 | c.385_387delinsATT (p.Ala129Ile) c.277_279delinsATT (p.Ala93Ile) c.388_390delinsATT (p.Ala130Ile) c.257_259delinsATT (n.257_259delinsATT) c.*26_*28delinsATT (n.*26_*28delinsATT) n.2515_2517delinsATT n.437_439delinsATT n.311_313delinsATT c.187_189delinsATT (p.Ala63Ile) | |
14 | g.90404478_90404480delinsCCC | CA2579774140 | CALM1 | c.385_387delinsCCC (p.Ala129Pro) c.277_279delinsCCC (p.Ala93Pro) c.388_390delinsCCC (p.Ala130Pro) c.257_259delinsCCC (n.257_259delinsCCC) c.*26_*28delinsCCC (n.*26_*28delinsCCC) n.2515_2517delinsCCC n.437_439delinsCCC n.311_313delinsCCC c.187_189delinsCCC (p.Ala63Pro) | |
14 | g.90404478_90404480delinsCCG | CA2579773234 | CALM1 | c.385_387delinsCCG (p.Ala129Pro) c.277_279delinsCCG (p.Ala93Pro) c.388_390delinsCCG (p.Ala130Pro) c.257_259delinsCCG (n.257_259delinsCCG) c.*26_*28delinsCCG (n.*26_*28delinsCCG) n.2515_2517delinsCCG n.437_439delinsCCG n.311_313delinsCCG c.187_189delinsCCG (p.Ala63Pro) | |
14 | g.90404478_90404480delinsCCT | CA2579770824 | CALM1 | c.385_387delinsCCT (p.Ala129Pro) c.277_279delinsCCT (p.Ala93Pro) c.388_390delinsCCT (p.Ala130Pro) c.257_259delinsCCT (n.257_259delinsCCT) c.*26_*28delinsCCT (n.*26_*28delinsCCT) n.2515_2517delinsCCT n.437_439delinsCCT n.311_313delinsCCT c.187_189delinsCCT (p.Ala63Pro) | |
14 | g.90404478_90404480delinsCGG | CA2579772747 | CALM1 | c.385_387delinsCGG (p.Ala129Arg) c.277_279delinsCGG (p.Ala93Arg) c.388_390delinsCGG (p.Ala130Arg) c.257_259delinsCGG (n.257_259delinsCGG) c.*26_*28delinsCGG (n.*26_*28delinsCGG) n.2515_2517delinsCGG n.437_439delinsCGG n.311_313delinsCGG c.187_189delinsCGG (p.Ala63Arg) | |
14 | g.90404478_90404480delinsCGT | CA2579771087 | CALM1 | c.385_387delinsCGT (p.Ala129Arg) c.277_279delinsCGT (p.Ala93Arg) c.388_390delinsCGT (p.Ala130Arg) c.257_259delinsCGT (n.257_259delinsCGT) c.*26_*28delinsCGT (n.*26_*28delinsCGT) n.2515_2517delinsCGT n.437_439delinsCGT n.311_313delinsCGT c.187_189delinsCGT (p.Ala63Arg) | |
14 | g.90404478_90404480delinsCTC | CA2579771883 | CALM1 | c.385_387delinsCTC (p.Ala129Leu) c.277_279delinsCTC (p.Ala93Leu) c.388_390delinsCTC (p.Ala130Leu) c.257_259delinsCTC (n.257_259delinsCTC) c.*26_*28delinsCTC (n.*26_*28delinsCTC) n.2515_2517delinsCTC n.437_439delinsCTC n.311_313delinsCTC c.187_189delinsCTC (p.Ala63Leu) | |
14 | g.90404478_90404480delinsCTG | CA2579773053 | CALM1 | c.385_387delinsCTG (p.Ala129Leu) c.277_279delinsCTG (p.Ala93Leu) c.388_390delinsCTG (p.Ala130Leu) c.257_259delinsCTG (n.257_259delinsCTG) c.*26_*28delinsCTG (n.*26_*28delinsCTG) n.2515_2517delinsCTG n.437_439delinsCTG n.311_313delinsCTG c.187_189delinsCTG (p.Ala63Leu) | |
14 | g.90404478_90404480delinsCTT | CA2579770669 | CALM1 | c.385_387delinsCTT (p.Ala129Leu) c.277_279delinsCTT (p.Ala93Leu) c.388_390delinsCTT (p.Ala130Leu) c.257_259delinsCTT (n.257_259delinsCTT) c.*26_*28delinsCTT (n.*26_*28delinsCTT) n.2515_2517delinsCTT n.437_439delinsCTT n.311_313delinsCTT c.187_189delinsCTT (p.Ala63Leu) | |
14 | g.90404478_90404480delinsTAG | CA2579769831 | CALM1 | c.385_387delinsTAG (p.Ala129Ter) c.277_279delinsTAG (p.Ala93Ter) c.388_390delinsTAG (p.Ala130Ter) c.257_259delinsTAG (n.257_259delinsTAG) c.*26_*28delinsTAG (n.*26_*28delinsTAG) n.2515_2517delinsTAG n.437_439delinsTAG n.311_313delinsTAG c.187_189delinsTAG (p.Ala63Ter) | |
14 | g.90404478_90404480delinsTAT | CA2579773525 | CALM1 | c.385_387delinsTAT (p.Ala129Tyr) c.277_279delinsTAT (p.Ala93Tyr) c.388_390delinsTAT (p.Ala130Tyr) c.257_259delinsTAT (n.257_259delinsTAT) c.*26_*28delinsTAT (n.*26_*28delinsTAT) n.2515_2517delinsTAT n.437_439delinsTAT n.311_313delinsTAT c.187_189delinsTAT (p.Ala63Tyr) | |
14 | g.90404478_90404480delinsTCC | CA2579773904 | CALM1 | c.385_387delinsTCC (p.Ala129Ser) c.277_279delinsTCC (p.Ala93Ser) c.388_390delinsTCC (p.Ala130Ser) c.257_259delinsTCC (n.257_259delinsTCC) c.*26_*28delinsTCC (n.*26_*28delinsTCC) n.2515_2517delinsTCC n.437_439delinsTCC n.311_313delinsTCC c.187_189delinsTCC (p.Ala63Ser) | |
14 | g.90404478_90404480delinsTCG | CA2579771471 | CALM1 | c.385_387delinsTCG (p.Ala129Ser) c.277_279delinsTCG (p.Ala93Ser) c.388_390delinsTCG (p.Ala130Ser) c.257_259delinsTCG (n.257_259delinsTCG) c.*26_*28delinsTCG (n.*26_*28delinsTCG) n.2515_2517delinsTCG n.437_439delinsTCG n.311_313delinsTCG c.187_189delinsTCG (p.Ala63Ser) | |
14 | g.90404478_90404480delinsTCT | CA2579773994 | CALM1 | c.385_387delinsTCT (p.Ala129Ser) c.277_279delinsTCT (p.Ala93Ser) c.388_390delinsTCT (p.Ala130Ser) c.257_259delinsTCT (n.257_259delinsTCT) c.*26_*28delinsTCT (n.*26_*28delinsTCT) n.2515_2517delinsTCT n.437_439delinsTCT n.311_313delinsTCT c.187_189delinsTCT (p.Ala63Ser) | |
14 | g.90404478_90404480delinsTGG | CA2579773942 | CALM1 | c.385_387delinsTGG (p.Ala129Trp) c.277_279delinsTGG (p.Ala93Trp) c.388_390delinsTGG (p.Ala130Trp) c.257_259delinsTGG (n.257_259delinsTGG) c.*26_*28delinsTGG (n.*26_*28delinsTGG) n.2515_2517delinsTGG n.437_439delinsTGG n.311_313delinsTGG c.187_189delinsTGG (p.Ala63Trp) | |
14 | g.90404478_90404480delinsTGT | CA2579770762 | CALM1 | c.385_387delinsTGT (p.Ala129Cys) c.277_279delinsTGT (p.Ala93Cys) c.388_390delinsTGT (p.Ala130Cys) c.257_259delinsTGT (n.257_259delinsTGT) c.*26_*28delinsTGT (n.*26_*28delinsTGT) n.2515_2517delinsTGT n.437_439delinsTGT n.311_313delinsTGT c.187_189delinsTGT (p.Ala63Cys) | |
14 | g.90404478_90404480delinsTTG | CA2579773702 | CALM1 | c.385_387delinsTTG (p.Ala129Leu) c.277_279delinsTTG (p.Ala93Leu) c.388_390delinsTTG (p.Ala130Leu) c.257_259delinsTTG (n.257_259delinsTTG) c.*26_*28delinsTTG (n.*26_*28delinsTTG) n.2515_2517delinsTTG n.437_439delinsTTG n.311_313delinsTTG c.187_189delinsTTG (p.Ala63Leu) | |
14 | g.90404478_90404480delinsTTT | CA2579771141 | CALM1 | c.385_387delinsTTT (p.Ala129Phe) c.277_279delinsTTT (p.Ala93Phe) c.388_390delinsTTT (p.Ala130Phe) c.257_259delinsTTT (n.257_259delinsTTT) c.*26_*28delinsTTT (n.*26_*28delinsTTT) n.2515_2517delinsTTT n.437_439delinsTTT n.311_313delinsTTT c.187_189delinsTTT (p.Ala63Phe) | |
14 | g.90404479C>A | CA390690335 | CALM1 | c.386C>A (p.Ala129Glu) c.278C>A (p.Ala93Glu) c.389C>A (p.Ala130Glu) c.258C>A (n.258C>A) c.*27C>A (n.*27C>A) n.2516C>A n.438C>A n.312C>A c.188C>A (p.Ala63Glu) | |
14 | g.90404479C>G | CA390690336 | CALM1 | c.386C>G (p.Ala129Gly) c.278C>G (p.Ala93Gly) c.389C>G (p.Ala130Gly) c.258C>G (n.258C>G) c.*27C>G (n.*27C>G) n.2516C>G n.438C>G n.312C>G c.188C>G (p.Ala63Gly) | |
14 | g.90404479C>T | CA390690337 | CALM1 | c.386C>T (p.Ala129Val) c.278C>T (p.Ala93Val) c.389C>T (p.Ala130Val) c.258C>T (n.258C>T) c.*27C>T (n.*27C>T) n.2516C>T n.438C>T n.312C>T c.188C>T (p.Ala63Val) | |
14 | g.90404479_90404480delinsAG | CA2579770953 | CALM1 | c.386_387delinsAG (p.Ala129Glu) c.278_279delinsAG (p.Ala93Glu) c.389_390delinsAG (p.Ala130Glu) c.258_259delinsAG (n.258_259delinsAG) c.*27_*28delinsAG (n.*27_*28delinsAG) n.2516_2517delinsAG n.438_439delinsAG n.312_313delinsAG c.188_189delinsAG (p.Ala63Glu) | |
14 | g.90404479_90404480delinsAT | CA2579771217 | CALM1 | c.386_387delinsAT (p.Ala129Asp) c.278_279delinsAT (p.Ala93Asp) c.389_390delinsAT (p.Ala130Asp) c.258_259delinsAT (n.258_259delinsAT) c.*27_*28delinsAT (n.*27_*28delinsAT) n.2516_2517delinsAT n.438_439delinsAT n.312_313delinsAT c.188_189delinsAT (p.Ala63Asp) | |
14 | g.90404479_90404480delinsGG | CA2579771586 | CALM1 | c.386_387delinsGG (p.Ala129Gly) c.278_279delinsGG (p.Ala93Gly) c.389_390delinsGG (p.Ala130Gly) c.258_259delinsGG (n.258_259delinsGG) c.*27_*28delinsGG (n.*27_*28delinsGG) n.2516_2517delinsGG n.438_439delinsGG n.312_313delinsGG c.188_189delinsGG (p.Ala63Gly) | |
14 | g.90404479_90404480delinsGT | CA2579770975 | CALM1 | c.386_387delinsGT (p.Ala129Gly) c.278_279delinsGT (p.Ala93Gly) c.389_390delinsGT (p.Ala130Gly) c.258_259delinsGT (n.258_259delinsGT) c.*27_*28delinsGT (n.*27_*28delinsGT) n.2516_2517delinsGT n.438_439delinsGT n.312_313delinsGT c.188_189delinsGT (p.Ala63Gly) | |
14 | g.90404479_90404480delinsTG | CA2579772008 | CALM1 | c.386_387delinsTG (p.Ala129Val) c.278_279delinsTG (p.Ala93Val) c.389_390delinsTG (p.Ala130Val) c.258_259delinsTG (n.258_259delinsTG) c.*27_*28delinsTG (n.*27_*28delinsTG) n.2516_2517delinsTG n.438_439delinsTG n.312_313delinsTG c.188_189delinsTG (p.Ala63Val) | |
14 | g.90404479_90404480delinsTT | CA2579772754 | CALM1 | c.386_387delinsTT (p.Ala129Val) c.278_279delinsTT (p.Ala93Val) c.389_390delinsTT (p.Ala130Val) c.258_259delinsTT (n.258_259delinsTT) c.*27_*28delinsTT (n.*27_*28delinsTT) n.2516_2517delinsTT n.438_439delinsTT n.312_313delinsTT c.188_189delinsTT (p.Ala63Val) | |
14 | g.90404480A>C | CA487760369 | CALM1 | c.387A>C (p.Ala129=) c.279A>C (p.Ala93=) c.390A>C (p.Ala130=) c.259A>C (n.259A>C) c.*28A>C (n.*28A>C) n.2517A>C n.439A>C n.313A>C c.189A>C (p.Ala63=) | |
14 | g.90404480A>G | CA487760370 | CALM1 | c.387A>G (p.Ala129=) c.279A>G (p.Ala93=) c.390A>G (p.Ala130=) c.259A>G (n.259A>G) c.*28A>G (n.*28A>G) n.2517A>G n.439A>G n.313A>G c.189A>G (p.Ala63=) | |
14 | g.90404480A>T | CA487760371 | CALM1 | c.387A>T (p.Ala129=) c.279A>T (p.Ala93=) c.390A>T (p.Ala130=) c.259A>T (n.259A>T) c.*28A>T (n.*28A>T) n.2517A>T n.439A>T n.313A>T c.189A>T (p.Ala63=) | |
14 | g.90404481G>A | CA390690338 | CALM1 | c.388G>A (p.Asp130Asn) c.280G>A (p.Asp94Asn) c.391G>A (p.Asp131Asn) c.260G>A (n.260G>A) c.*29G>A (n.*29G>A) n.2518G>A n.440G>A n.314G>A c.190G>A (p.Asp64Asn) | |
14 | g.90404481G>C | CA390690339 | CALM1 | c.388G>C (p.Asp130His) c.280G>C (p.Asp94His) c.391G>C (p.Asp131His) c.260G>C (n.260G>C) c.*29G>C (n.*29G>C) n.2518G>C n.440G>C n.314G>C c.190G>C (p.Asp64His) | |
14 | g.90404481G>T | CA390690340 | CALM1 | c.388G>T (p.Asp130Tyr) c.280G>T (p.Asp94Tyr) c.391G>T (p.Asp131Tyr) c.260G>T (n.260G>T) c.*29G>T (n.*29G>T) n.2518G>T n.440G>T n.314G>T c.190G>T (p.Asp64Tyr) | |
14 | g.90404481_90404482delinsAC | CA2579769844 | CALM1 | c.388_389delinsAC (p.Asp130Thr) c.280_281delinsAC (p.Asp94Thr) c.391_392delinsAC (p.Asp131Thr) c.260_261delinsAC (n.260_261delinsAC) c.*29_*30delinsAC (n.*29_*30delinsAC) n.2518_2519delinsAC n.440_441delinsAC n.314_315delinsAC c.190_191delinsAC (p.Asp64Thr) | |
14 | g.90404481_90404482delinsAG | CA2579770991 | CALM1 | c.388_389delinsAG (p.Asp130Ser) c.280_281delinsAG (p.Asp94Ser) c.391_392delinsAG (p.Asp131Ser) c.260_261delinsAG (n.260_261delinsAG) c.*29_*30delinsAG (n.*29_*30delinsAG) n.2518_2519delinsAG n.440_441delinsAG n.314_315delinsAG c.190_191delinsAG (p.Asp64Ser) | |
14 | g.90404481_90404482delinsAT | CA2579770574 | CALM1 | c.388_389delinsAT (p.Asp130Ile) c.280_281delinsAT (p.Asp94Ile) c.391_392delinsAT (p.Asp131Ile) c.260_261delinsAT (n.260_261delinsAT) c.*29_*30delinsAT (n.*29_*30delinsAT) n.2518_2519delinsAT n.440_441delinsAT n.314_315delinsAT c.190_191delinsAT (p.Asp64Ile) | |
14 | g.90404481_90404482delinsCC | CA2579771435 | CALM1 | c.388_389delinsCC (p.Asp130Pro) c.280_281delinsCC (p.Asp94Pro) c.391_392delinsCC (p.Asp131Pro) c.260_261delinsCC (n.260_261delinsCC) c.*29_*30delinsCC (n.*29_*30delinsCC) n.2518_2519delinsCC n.440_441delinsCC n.314_315delinsCC c.190_191delinsCC (p.Asp64Pro) | |
14 | g.90404481_90404482delinsCG | CA2579771169 | CALM1 | c.388_389delinsCG (p.Asp130Arg) c.280_281delinsCG (p.Asp94Arg) c.391_392delinsCG (p.Asp131Arg) c.260_261delinsCG (n.260_261delinsCG) c.*29_*30delinsCG (n.*29_*30delinsCG) n.2518_2519delinsCG n.440_441delinsCG n.314_315delinsCG c.190_191delinsCG (p.Asp64Arg) | |
14 | g.90404481_90404482delinsCT | CA2579772546 | CALM1 | c.388_389delinsCT (p.Asp130Leu) c.280_281delinsCT (p.Asp94Leu) c.391_392delinsCT (p.Asp131Leu) c.260_261delinsCT (n.260_261delinsCT) c.*29_*30delinsCT (n.*29_*30delinsCT) n.2518_2519delinsCT n.440_441delinsCT n.314_315delinsCT c.190_191delinsCT (p.Asp64Leu) | |
14 | g.90404481_90404482delinsTC | CA2579772678 | CALM1 | c.388_389delinsTC (p.Asp130Ser) c.280_281delinsTC (p.Asp94Ser) c.391_392delinsTC (p.Asp131Ser) c.260_261delinsTC (n.260_261delinsTC) c.*29_*30delinsTC (n.*29_*30delinsTC) n.2518_2519delinsTC n.440_441delinsTC n.314_315delinsTC c.190_191delinsTC (p.Asp64Ser) | |
14 | g.90404481_90404482delinsTG | CA2579771357 | CALM1 | c.388_389delinsTG (p.Asp130Cys) c.280_281delinsTG (p.Asp94Cys) c.391_392delinsTG (p.Asp131Cys) c.260_261delinsTG (n.260_261delinsTG) c.*29_*30delinsTG (n.*29_*30delinsTG) n.2518_2519delinsTG n.440_441delinsTG n.314_315delinsTG c.190_191delinsTG (p.Asp64Cys) | |
14 | g.90404481_90404482delinsTT | CA2579772433 | CALM1 | c.388_389delinsTT (p.Asp130Phe) c.280_281delinsTT (p.Asp94Phe) c.391_392delinsTT (p.Asp131Phe) c.260_261delinsTT (n.260_261delinsTT) c.*29_*30delinsTT (n.*29_*30delinsTT) n.2518_2519delinsTT n.440_441delinsTT n.314_315delinsTT c.190_191delinsTT (p.Asp64Phe) | |
14 | g.90404481_90404483delinsAAA | CA2579770033 | CALM1 | c.388_390delinsAAA (p.Asp130Lys) c.280_282delinsAAA (p.Asp94Lys) c.391_393delinsAAA (p.Asp131Lys) c.260_262delinsAAA (n.260_262delinsAAA) c.*29_*31delinsAAA (n.*29_*31delinsAAA) n.2518_2520delinsAAA n.440_442delinsAAA n.314_316delinsAAA c.190_192delinsAAA (p.Asp64Lys) | |
14 | g.90404481_90404483delinsAAC | CA2579774176 | CALM1 | c.388_390delinsAAC (p.Asp130Asn) c.280_282delinsAAC (p.Asp94Asn) c.391_393delinsAAC (p.Asp131Asn) c.260_262delinsAAC (n.260_262delinsAAC) c.*29_*31delinsAAC (n.*29_*31delinsAAC) n.2518_2520delinsAAC n.440_442delinsAAC n.314_316delinsAAC c.190_192delinsAAC (p.Asp64Asn) | |
14 | g.90404481_90404483delinsAAG | CA2579771535 | CALM1 | c.388_390delinsAAG (p.Asp130Lys) c.280_282delinsAAG (p.Asp94Lys) c.391_393delinsAAG (p.Asp131Lys) c.260_262delinsAAG (n.260_262delinsAAG) c.*29_*31delinsAAG (n.*29_*31delinsAAG) n.2518_2520delinsAAG n.440_442delinsAAG n.314_316delinsAAG c.190_192delinsAAG (p.Asp64Lys) | |
14 | g.90404481_90404483delinsAGG | CA2579771667 | CALM1 | c.388_390delinsAGG (p.Asp130Arg) c.280_282delinsAGG (p.Asp94Arg) c.391_393delinsAGG (p.Asp131Arg) c.260_262delinsAGG (n.260_262delinsAGG) c.*29_*31delinsAGG (n.*29_*31delinsAGG) n.2518_2520delinsAGG n.440_442delinsAGG n.314_316delinsAGG c.190_192delinsAGG (p.Asp64Arg) | |
14 | g.90404481_90404483delinsCAA | CA2579773771 | CALM1 | c.388_390delinsCAA (p.Asp130Gln) c.280_282delinsCAA (p.Asp94Gln) c.391_393delinsCAA (p.Asp131Gln) c.260_262delinsCAA (n.260_262delinsCAA) c.*29_*31delinsCAA (n.*29_*31delinsCAA) n.2518_2520delinsCAA n.440_442delinsCAA n.314_316delinsCAA c.190_192delinsCAA (p.Asp64Gln) | |
14 | g.90404481_90404483delinsCAG | CA2579770727 | CALM1 | c.388_390delinsCAG (p.Asp130Gln) c.280_282delinsCAG (p.Asp94Gln) c.391_393delinsCAG (p.Asp131Gln) c.260_262delinsCAG (n.260_262delinsCAG) c.*29_*31delinsCAG (n.*29_*31delinsCAG) n.2518_2520delinsCAG n.440_442delinsCAG n.314_316delinsCAG c.190_192delinsCAG (p.Asp64Gln) | |
14 | g.90404481_90404483delinsCCG | CA2579769874 | CALM1 | c.388_390delinsCCG (p.Asp130Pro) c.280_282delinsCCG (p.Asp94Pro) c.391_393delinsCCG (p.Asp131Pro) c.260_262delinsCCG (n.260_262delinsCCG) c.*29_*31delinsCCG (n.*29_*31delinsCCG) n.2518_2520delinsCCG n.440_442delinsCCG n.314_316delinsCCG c.190_192delinsCCG (p.Asp64Pro) | |
14 | g.90404481_90404483delinsCGG | CA2579769888 | CALM1 | c.388_390delinsCGG (p.Asp130Arg) c.280_282delinsCGG (p.Asp94Arg) c.391_393delinsCGG (p.Asp131Arg) c.260_262delinsCGG (n.260_262delinsCGG) c.*29_*31delinsCGG (n.*29_*31delinsCGG) n.2518_2520delinsCGG n.440_442delinsCGG n.314_316delinsCGG c.190_192delinsCGG (p.Asp64Arg) | |
14 | g.90404481_90404483delinsCTG | CA2579774105 | CALM1 | c.388_390delinsCTG (p.Asp130Leu) c.280_282delinsCTG (p.Asp94Leu) c.391_393delinsCTG (p.Asp131Leu) c.260_262delinsCTG (n.260_262delinsCTG) c.*29_*31delinsCTG (n.*29_*31delinsCTG) n.2518_2520delinsCTG n.440_442delinsCTG n.314_316delinsCTG c.190_192delinsCTG (p.Asp64Leu) | |
14 | g.90404481_90404483delinsTAA | CA2579770590 | CALM1 | c.388_390delinsTAA (p.Asp130Ter) c.280_282delinsTAA (p.Asp94Ter) c.391_393delinsTAA (p.Asp131Ter) c.260_262delinsTAA (n.260_262delinsTAA) c.*29_*31delinsTAA (n.*29_*31delinsTAA) n.2518_2520delinsTAA n.440_442delinsTAA n.314_316delinsTAA c.190_192delinsTAA (p.Asp64Ter) | |
14 | g.90404481_90404483delinsTAC | CA2579773696 | CALM1 | c.388_390delinsTAC (p.Asp130Tyr) c.280_282delinsTAC (p.Asp94Tyr) c.391_393delinsTAC (p.Asp131Tyr) c.260_262delinsTAC (n.260_262delinsTAC) c.*29_*31delinsTAC (n.*29_*31delinsTAC) n.2518_2520delinsTAC n.440_442delinsTAC n.314_316delinsTAC c.190_192delinsTAC (p.Asp64Tyr) | |
14 | g.90404481_90404483delinsTAG | CA2579772513 | CALM1 | c.388_390delinsTAG (p.Asp130Ter) c.280_282delinsTAG (p.Asp94Ter) c.391_393delinsTAG (p.Asp131Ter) c.260_262delinsTAG (n.260_262delinsTAG) c.*29_*31delinsTAG (n.*29_*31delinsTAG) n.2518_2520delinsTAG n.440_442delinsTAG n.314_316delinsTAG c.190_192delinsTAG (p.Asp64Ter) | |
14 | g.90404481_90404483delinsTCG | CA2579773664 | CALM1 | c.388_390delinsTCG (p.Asp130Ser) c.280_282delinsTCG (p.Asp94Ser) c.391_393delinsTCG (p.Asp131Ser) c.260_262delinsTCG (n.260_262delinsTCG) c.*29_*31delinsTCG (n.*29_*31delinsTCG) n.2518_2520delinsTCG n.440_442delinsTCG n.314_316delinsTCG c.190_192delinsTCG (p.Asp64Ser) | |
14 | g.90404481_90404483delinsTGG | CA2579773975 | CALM1 | c.388_390delinsTGG (p.Asp130Trp) c.280_282delinsTGG (p.Asp94Trp) c.391_393delinsTGG (p.Asp131Trp) c.260_262delinsTGG (n.260_262delinsTGG) c.*29_*31delinsTGG (n.*29_*31delinsTGG) n.2518_2520delinsTGG n.440_442delinsTGG n.314_316delinsTGG c.190_192delinsTGG (p.Asp64Trp) | |
14 | g.90404481_90404483delinsTTG | CA2579770992 | CALM1 | c.388_390delinsTTG (p.Asp130Leu) c.280_282delinsTTG (p.Asp94Leu) c.391_393delinsTTG (p.Asp131Leu) c.260_262delinsTTG (n.260_262delinsTTG) c.*29_*31delinsTTG (n.*29_*31delinsTTG) n.2518_2520delinsTTG n.440_442delinsTTG n.314_316delinsTTG c.190_192delinsTTG (p.Asp64Leu) | |
14 | g.90404482A= | CA2154484156 | CALM1 | c.389A= (p.Asp130=) c.281A= (p.Asp94=) c.392A= (p.Asp131=) c.261A= (n.261A=) c.*30A= (n.*30A=) n.2519A= n.441A= n.315A= c.191A= (p.Asp64=) | |
14 | g.90404482A>C | CA390690341 | CALM1 | c.389A>C (p.Asp130Ala) c.281A>C (p.Asp94Ala) c.392A>C (p.Asp131Ala) c.261A>C (n.261A>C) c.*30A>C (n.*30A>C) n.2519A>C n.441A>C n.315A>C c.191A>C (p.Asp64Ala) | |
14 | g.90404482A>G | CA186013 | CALM1 | c.389A>G (p.Asp130Gly) c.281A>G (p.Asp94Gly) c.392A>G (p.Asp131Gly) c.261A>G (n.261A>G) c.*30A>G (n.*30A>G) n.2519A>G n.441A>G n.315A>G c.191A>G (p.Asp64Gly) | ClinVar dbSNP |
14 | g.90404482A>T | CA390690342 | CALM1 | c.389A>T (p.Asp130Val) c.281A>T (p.Asp94Val) c.392A>T (p.Asp131Val) c.261A>T (n.261A>T) c.*30A>T (n.*30A>T) n.2519A>T n.441A>T n.315A>T c.191A>T (p.Asp64Val) | |
14 | g.90404482_90404483delinsCG | CA2579773670 | CALM1 | c.389_390delinsCG (p.Asp130Ala) c.281_282delinsCG (p.Asp94Ala) c.392_393delinsCG (p.Asp131Ala) c.261_262delinsCG (n.261_262delinsCG) c.*30_*31delinsCG (n.*30_*31delinsCG) n.2519_2520delinsCG n.441_442delinsCG n.315_316delinsCG c.191_192delinsCG (p.Asp64Ala) | |
14 | g.90404482_90404483delinsGA | CA2579770790 | CALM1 | c.389_390delinsGA (p.Asp130Gly) c.281_282delinsGA (p.Asp94Gly) c.392_393delinsGA (p.Asp131Gly) c.261_262delinsGA (n.261_262delinsGA) c.*30_*31delinsGA (n.*30_*31delinsGA) n.2519_2520delinsGA n.441_442delinsGA n.315_316delinsGA c.191_192delinsGA (p.Asp64Gly) | |
14 | g.90404482_90404483delinsGC | CA2579772655 | CALM1 | c.389_390delinsGC (p.Asp130Gly) c.281_282delinsGC (p.Asp94Gly) c.392_393delinsGC (p.Asp131Gly) c.261_262delinsGC (n.261_262delinsGC) c.*30_*31delinsGC (n.*30_*31delinsGC) n.2519_2520delinsGC n.441_442delinsGC n.315_316delinsGC c.191_192delinsGC (p.Asp64Gly) | |
14 | g.90404482_90404483delinsGG | CA2579773211 | CALM1 | c.389_390delinsGG (p.Asp130Gly) c.281_282delinsGG (p.Asp94Gly) c.392_393delinsGG (p.Asp131Gly) c.261_262delinsGG (n.261_262delinsGG) c.*30_*31delinsGG (n.*30_*31delinsGG) n.2519_2520delinsGG n.441_442delinsGG n.315_316delinsGG c.191_192delinsGG (p.Asp64Gly) | |
14 | g.90404482_90404483delinsTA | CA2579772970 | CALM1 | c.389_390delinsTA (p.Asp130Val) c.281_282delinsTA (p.Asp94Val) c.392_393delinsTA (p.Asp131Val) c.261_262delinsTA (n.261_262delinsTA) c.*30_*31delinsTA (n.*30_*31delinsTA) n.2519_2520delinsTA n.441_442delinsTA n.315_316delinsTA c.191_192delinsTA (p.Asp64Val) | |
14 | g.90404482_90404483delinsTC | CA2579773674 | CALM1 | c.389_390delinsTC (p.Asp130Val) c.281_282delinsTC (p.Asp94Val) c.392_393delinsTC (p.Asp131Val) c.261_262delinsTC (n.261_262delinsTC) c.*30_*31delinsTC (n.*30_*31delinsTC) n.2519_2520delinsTC n.441_442delinsTC n.315_316delinsTC c.191_192delinsTC (p.Asp64Val) | |
14 | g.90404482_90404483delinsTG | CA2579773932 | CALM1 | c.389_390delinsTG (p.Asp130Val) c.281_282delinsTG (p.Asp94Val) c.392_393delinsTG (p.Asp131Val) c.261_262delinsTG (n.261_262delinsTG) c.*30_*31delinsTG (n.*30_*31delinsTG) n.2519_2520delinsTG n.441_442delinsTG n.315_316delinsTG c.191_192delinsTG (p.Asp64Val) | |
14 | g.90404483T>A | CA390690343 | CALM1 | c.390T>A (p.Asp130Glu) c.282T>A (p.Asp94Glu) c.393T>A (p.Asp131Glu) c.262T>A (n.262T>A) c.*31T>A (n.*31T>A) n.2520T>A n.442T>A n.316T>A c.192T>A (p.Asp64Glu) | |
14 | g.90404483T>C | CA487760381 | CALM1 | c.390T>C (p.Asp130=) c.282T>C (p.Asp94=) c.393T>C (p.Asp131=) c.262T>C (n.262T>C) c.*31T>C (n.*31T>C) n.2520T>C n.442T>C n.316T>C c.192T>C (p.Asp64=) | ClinVar dbSNP |
14 | g.90404483T>G | CA390690344 | CALM1 | c.390T>G (p.Asp130Glu) c.282T>G (p.Asp94Glu) c.393T>G (p.Asp131Glu) c.262T>G (n.262T>G) c.*31T>G (n.*31T>G) n.2520T>G n.442T>G n.316T>G c.192T>G (p.Asp64Glu) | |
14 | g.90404484A>C | CA390690347 | CALM1 | c.391A>C (p.Ile131Leu) c.283A>C (p.Ile95Leu) c.394A>C (p.Ile132Leu) c.263A>C (n.263A>C) c.*32A>C (n.*32A>C) n.2521A>C n.443A>C n.317A>C c.193A>C (p.Ile65Leu) | |
14 | g.90404484A>G | CA390690346 | CALM1 | c.391A>G (p.Ile131Val) c.283A>G (p.Ile95Val) c.394A>G (p.Ile132Val) c.263A>G (n.263A>G) c.*32A>G (n.*32A>G) n.2521A>G n.443A>G n.317A>G c.193A>G (p.Ile65Val) | |
14 | g.90404484A>T | CA390690345 | CALM1 | c.391A>T (p.Ile131Phe) c.283A>T (p.Ile95Phe) c.394A>T (p.Ile132Phe) c.263A>T (n.263A>T) c.*32A>T (n.*32A>T) n.2521A>T n.443A>T n.317A>T c.193A>T (p.Ile65Phe) | |
14 | g.90404484_90404485delinsCA | CA2579771984 | CALM1 | c.391_392delinsCA (p.Ile131His) c.283_284delinsCA (p.Ile95His) c.394_395delinsCA (p.Ile132His) c.263_264delinsCA (n.263_264delinsCA) c.*32_*33delinsCA (n.*32_*33delinsCA) n.2521_2522delinsCA n.443_444delinsCA n.317_318delinsCA c.193_194delinsCA (p.Ile65His) | |
14 | g.90404484_90404485delinsCC | CA2579772103 | CALM1 | c.391_392delinsCC (p.Ile131Pro) c.283_284delinsCC (p.Ile95Pro) c.394_395delinsCC (p.Ile132Pro) c.263_264delinsCC (n.263_264delinsCC) c.*32_*33delinsCC (n.*32_*33delinsCC) n.2521_2522delinsCC n.443_444delinsCC n.317_318delinsCC c.193_194delinsCC (p.Ile65Pro) | |
14 | g.90404484_90404485delinsCG | CA2579771426 | CALM1 | c.391_392delinsCG (p.Ile131Arg) c.283_284delinsCG (p.Ile95Arg) c.394_395delinsCG (p.Ile132Arg) c.263_264delinsCG (n.263_264delinsCG) c.*32_*33delinsCG (n.*32_*33delinsCG) n.2521_2522delinsCG n.443_444delinsCG n.317_318delinsCG c.193_194delinsCG (p.Ile65Arg) | |
14 | g.90404484_90404485delinsGA | CA2579773271 | CALM1 | c.391_392delinsGA (p.Ile131Asp) c.283_284delinsGA (p.Ile95Asp) c.394_395delinsGA (p.Ile132Asp) c.263_264delinsGA (n.263_264delinsGA) c.*32_*33delinsGA (n.*32_*33delinsGA) n.2521_2522delinsGA n.443_444delinsGA n.317_318delinsGA c.193_194delinsGA (p.Ile65Asp) | |
14 | g.90404484_90404485delinsGC | CA2579770853 | CALM1 | c.391_392delinsGC (p.Ile131Ala) c.283_284delinsGC (p.Ile95Ala) c.394_395delinsGC (p.Ile132Ala) c.263_264delinsGC (n.263_264delinsGC) c.*32_*33delinsGC (n.*32_*33delinsGC) n.2521_2522delinsGC n.443_444delinsGC n.317_318delinsGC c.193_194delinsGC (p.Ile65Ala) | |
14 | g.90404484_90404485delinsGG | CA2579772589 | CALM1 | c.391_392delinsGG (p.Ile131Gly) c.283_284delinsGG (p.Ile95Gly) c.394_395delinsGG (p.Ile132Gly) c.263_264delinsGG (n.263_264delinsGG) c.*32_*33delinsGG (n.*32_*33delinsGG) n.2521_2522delinsGG n.443_444delinsGG n.317_318delinsGG c.193_194delinsGG (p.Ile65Gly) | |
14 | g.90404484_90404485delinsTA | CA2579772460 | CALM1 | c.391_392delinsTA (p.Ile131Tyr) c.283_284delinsTA (p.Ile95Tyr) c.394_395delinsTA (p.Ile132Tyr) c.263_264delinsTA (n.263_264delinsTA) c.*32_*33delinsTA (n.*32_*33delinsTA) n.2521_2522delinsTA n.443_444delinsTA n.317_318delinsTA c.193_194delinsTA (p.Ile65Tyr) | |
14 | g.90404484_90404485delinsTC | CA2579773962 | CALM1 | c.391_392delinsTC (p.Ile131Ser) c.283_284delinsTC (p.Ile95Ser) c.394_395delinsTC (p.Ile132Ser) c.263_264delinsTC (n.263_264delinsTC) c.*32_*33delinsTC (n.*32_*33delinsTC) n.2521_2522delinsTC n.443_444delinsTC n.317_318delinsTC c.193_194delinsTC (p.Ile65Ser) | |
14 | g.90404484_90404485delinsTG | CA2579773126 | CALM1 | c.391_392delinsTG (p.Ile131Cys) c.283_284delinsTG (p.Ile95Cys) c.394_395delinsTG (p.Ile132Cys) c.263_264delinsTG (n.263_264delinsTG) c.*32_*33delinsTG (n.*32_*33delinsTG) n.2521_2522delinsTG n.443_444delinsTG n.317_318delinsTG c.193_194delinsTG (p.Ile65Cys) | |
14 | g.90404484_90404486delinsCAG | CA2579769853 | CALM1 | c.391_393delinsCAG (p.Ile131Gln) c.283_285delinsCAG (p.Ile95Gln) c.394_396delinsCAG (p.Ile132Gln) c.263_265delinsCAG (n.263_265delinsCAG) c.*32_*34delinsCAG (n.*32_*34delinsCAG) n.2521_2523delinsCAG n.443_445delinsCAG n.317_319delinsCAG c.193_195delinsCAG (p.Ile65Gln) | |
14 | g.90404484_90404486delinsCCG | CA2579770710 | CALM1 | c.391_393delinsCCG (p.Ile131Pro) c.283_285delinsCCG (p.Ile95Pro) c.394_396delinsCCG (p.Ile132Pro) c.263_265delinsCCG (n.263_265delinsCCG) c.*32_*34delinsCCG (n.*32_*34delinsCCG) n.2521_2523delinsCCG n.443_445delinsCCG n.317_319delinsCCG c.193_195delinsCCG (p.Ile65Pro) | |
14 | g.90404484_90404486delinsCGG | CA2579773280 | CALM1 | c.391_393delinsCGG (p.Ile131Arg) c.283_285delinsCGG (p.Ile95Arg) c.394_396delinsCGG (p.Ile132Arg) c.263_265delinsCGG (n.263_265delinsCGG) c.*32_*34delinsCGG (n.*32_*34delinsCGG) n.2521_2523delinsCGG n.443_445delinsCGG n.317_319delinsCGG c.193_195delinsCGG (p.Ile65Arg) | |
14 | g.90404484_90404486delinsCTC | CA2579773551 | CALM1 | c.391_393delinsCTC (p.Ile131Leu) c.283_285delinsCTC (p.Ile95Leu) c.394_396delinsCTC (p.Ile132Leu) c.263_265delinsCTC (n.263_265delinsCTC) c.*32_*34delinsCTC (n.*32_*34delinsCTC) n.2521_2523delinsCTC n.443_445delinsCTC n.317_319delinsCTC c.193_195delinsCTC (p.Ile65Leu) | |
14 | g.90404484_90404486delinsCTG | CA2579771779 | CALM1 | c.391_393delinsCTG (p.Ile131Leu) c.283_285delinsCTG (p.Ile95Leu) c.394_396delinsCTG (p.Ile132Leu) c.263_265delinsCTG (n.263_265delinsCTG) c.*32_*34delinsCTG (n.*32_*34delinsCTG) n.2521_2523delinsCTG n.443_445delinsCTG n.317_319delinsCTG c.193_195delinsCTG (p.Ile65Leu) | |
14 | g.90404484_90404486delinsGAA | CA2579771324 | CALM1 | c.391_393delinsGAA (p.Ile131Glu) c.283_285delinsGAA (p.Ile95Glu) c.394_396delinsGAA (p.Ile132Glu) c.263_265delinsGAA (n.263_265delinsGAA) c.*32_*34delinsGAA (n.*32_*34delinsGAA) n.2521_2523delinsGAA n.443_445delinsGAA n.317_319delinsGAA c.193_195delinsGAA (p.Ile65Glu) | |
14 | g.90404484_90404486delinsGAG | CA2579770891 | CALM1 | c.391_393delinsGAG (p.Ile131Glu) c.283_285delinsGAG (p.Ile95Glu) c.394_396delinsGAG (p.Ile132Glu) c.263_265delinsGAG (n.263_265delinsGAG) c.*32_*34delinsGAG (n.*32_*34delinsGAG) n.2521_2523delinsGAG n.443_445delinsGAG n.317_319delinsGAG c.193_195delinsGAG (p.Ile65Glu) | |
14 | g.90404484_90404486delinsGCG | CA2579770543 | CALM1 | c.391_393delinsGCG (p.Ile131Ala) c.283_285delinsGCG (p.Ile95Ala) c.394_396delinsGCG (p.Ile132Ala) c.263_265delinsGCG (n.263_265delinsGCG) c.*32_*34delinsGCG (n.*32_*34delinsGCG) n.2521_2523delinsGCG n.443_445delinsGCG n.317_319delinsGCG c.193_195delinsGCG (p.Ile65Ala) | |
14 | g.90404484_90404486delinsGGG | CA2579773162 | CALM1 | c.391_393delinsGGG (p.Ile131Gly) c.283_285delinsGGG (p.Ile95Gly) c.394_396delinsGGG (p.Ile132Gly) c.263_265delinsGGG (n.263_265delinsGGG) c.*32_*34delinsGGG (n.*32_*34delinsGGG) n.2521_2523delinsGGG n.443_445delinsGGG n.317_319delinsGGG c.193_195delinsGGG (p.Ile65Gly) | |
14 | g.90404484_90404486delinsGTA | CA2579769944 | CALM1 | c.391_393delinsGTA (p.Ile131Val) c.283_285delinsGTA (p.Ile95Val) c.394_396delinsGTA (p.Ile132Val) c.263_265delinsGTA (n.263_265delinsGTA) c.*32_*34delinsGTA (n.*32_*34delinsGTA) n.2521_2523delinsGTA n.443_445delinsGTA n.317_319delinsGTA c.193_195delinsGTA (p.Ile65Val) | |
14 | g.90404484_90404486delinsGTC | CA2579771037 | CALM1 | c.391_393delinsGTC (p.Ile131Val) c.283_285delinsGTC (p.Ile95Val) c.394_396delinsGTC (p.Ile132Val) c.263_265delinsGTC (n.263_265delinsGTC) c.*32_*34delinsGTC (n.*32_*34delinsGTC) n.2521_2523delinsGTC n.443_445delinsGTC n.317_319delinsGTC c.193_195delinsGTC (p.Ile65Val) | |
14 | g.90404484_90404486delinsGTG | CA2579771782 | CALM1 | c.391_393delinsGTG (p.Ile131Val) c.283_285delinsGTG (p.Ile95Val) c.394_396delinsGTG (p.Ile132Val) c.263_265delinsGTG (n.263_265delinsGTG) c.*32_*34delinsGTG (n.*32_*34delinsGTG) n.2521_2523delinsGTG n.443_445delinsGTG n.317_319delinsGTG c.193_195delinsGTG (p.Ile65Val) | |
14 | g.90404484_90404486delinsTAG | CA2579774211 | CALM1 | c.391_393delinsTAG (p.Ile131Ter) c.283_285delinsTAG (p.Ile95Ter) c.394_396delinsTAG (p.Ile132Ter) c.263_265delinsTAG (n.263_265delinsTAG) c.*32_*34delinsTAG (n.*32_*34delinsTAG) n.2521_2523delinsTAG n.443_445delinsTAG n.317_319delinsTAG c.193_195delinsTAG (p.Ile65Ter) | |
14 | g.90404484_90404486delinsTCG | CA2579770687 | CALM1 | c.391_393delinsTCG (p.Ile131Ser) c.283_285delinsTCG (p.Ile95Ser) c.394_396delinsTCG (p.Ile132Ser) c.263_265delinsTCG (n.263_265delinsTCG) c.*32_*34delinsTCG (n.*32_*34delinsTCG) n.2521_2523delinsTCG n.443_445delinsTCG n.317_319delinsTCG c.193_195delinsTCG (p.Ile65Ser) | |
14 | g.90404484_90404486delinsTGG | CA2579771072 | CALM1 | c.391_393delinsTGG (p.Ile131Trp) c.283_285delinsTGG (p.Ile95Trp) c.394_396delinsTGG (p.Ile132Trp) c.263_265delinsTGG (n.263_265delinsTGG) c.*32_*34delinsTGG (n.*32_*34delinsTGG) n.2521_2523delinsTGG n.443_445delinsTGG n.317_319delinsTGG c.193_195delinsTGG (p.Ile65Trp) | |
14 | g.90404484_90404486delinsTTA | CA2579772863 | CALM1 | c.391_393delinsTTA (p.Ile131Leu) c.283_285delinsTTA (p.Ile95Leu) c.394_396delinsTTA (p.Ile132Leu) c.263_265delinsTTA (n.263_265delinsTTA) c.*32_*34delinsTTA (n.*32_*34delinsTTA) n.2521_2523delinsTTA n.443_445delinsTTA n.317_319delinsTTA c.193_195delinsTTA (p.Ile65Leu) | |
14 | g.90404484_90404486delinsTTG | CA2579771126 | CALM1 | c.391_393delinsTTG (p.Ile131Leu) c.283_285delinsTTG (p.Ile95Leu) c.394_396delinsTTG (p.Ile132Leu) c.263_265delinsTTG (n.263_265delinsTTG) c.*32_*34delinsTTG (n.*32_*34delinsTTG) n.2521_2523delinsTTG n.443_445delinsTTG n.317_319delinsTTG c.193_195delinsTTG (p.Ile65Leu) | |
14 | g.90404485T>A | CA390690348 | CALM1 | c.392T>A (p.Ile131Asn) c.284T>A (p.Ile95Asn) c.395T>A (p.Ile132Asn) c.264T>A (n.264T>A) c.*33T>A (n.*33T>A) n.2522T>A n.444T>A n.318T>A c.194T>A (p.Ile65Asn) | |
14 | g.90404485T>C | CA390690349 | CALM1 | c.392T>C (p.Ile131Thr) c.284T>C (p.Ile95Thr) c.395T>C (p.Ile132Thr) c.264T>C (n.264T>C) c.*33T>C (n.*33T>C) n.2522T>C n.444T>C n.318T>C c.194T>C (p.Ile65Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.90404485T>G | CA390690350 | CALM1 | c.392T>G (p.Ile131Ser) c.284T>G (p.Ile95Ser) c.395T>G (p.Ile132Ser) c.264T>G (n.264T>G) c.*33T>G (n.*33T>G) n.2522T>G n.444T>G n.318T>G c.194T>G (p.Ile65Ser) | |
14 | g.90404485T= | CA2154484160 | CALM1 | c.392T= (p.Ile131=) c.284T= (p.Ile95=) c.395T= (p.Ile132=) c.264T= (n.264T=) c.*33T= (n.*33T=) n.2522T= n.444T= n.318T= c.194T= (p.Ile65=) | |
14 | g.90404485_90404486delinsAC | CA2579772404 | CALM1 | c.392_393delinsAC (p.Ile131Asn) c.284_285delinsAC (p.Ile95Asn) c.395_396delinsAC (p.Ile132Asn) c.264_265delinsAC (n.264_265delinsAC) c.*33_*34delinsAC (n.*33_*34delinsAC) n.2522_2523delinsAC n.444_445delinsAC n.318_319delinsAC c.194_195delinsAC (p.Ile65Asn) | |
14 | g.90404485_90404486delinsAG | CA2579772063 | CALM1 | c.392_393delinsAG (p.Ile131Lys) c.284_285delinsAG (p.Ile95Lys) c.395_396delinsAG (p.Ile132Lys) c.264_265delinsAG (n.264_265delinsAG) c.*33_*34delinsAG (n.*33_*34delinsAG) n.2522_2523delinsAG n.444_445delinsAG n.318_319delinsAG c.194_195delinsAG (p.Ile65Lys) | |
14 | g.90404485_90404486delinsCA | CA2579772547 | CALM1 | c.392_393delinsCA (p.Ile131Thr) c.284_285delinsCA (p.Ile95Thr) c.395_396delinsCA (p.Ile132Thr) c.264_265delinsCA (n.264_265delinsCA) c.*33_*34delinsCA (n.*33_*34delinsCA) n.2522_2523delinsCA n.444_445delinsCA n.318_319delinsCA c.194_195delinsCA (p.Ile65Thr) | |
14 | g.90404485_90404486delinsCC | CA2579771325 | CALM1 | c.392_393delinsCC (p.Ile131Thr) c.284_285delinsCC (p.Ile95Thr) c.395_396delinsCC (p.Ile132Thr) c.264_265delinsCC (n.264_265delinsCC) c.*33_*34delinsCC (n.*33_*34delinsCC) n.2522_2523delinsCC n.444_445delinsCC n.318_319delinsCC c.194_195delinsCC (p.Ile65Thr) | |
14 | g.90404485_90404486delinsCG | CA2579770563 | CALM1 | c.392_393delinsCG (p.Ile131Thr) c.284_285delinsCG (p.Ile95Thr) c.395_396delinsCG (p.Ile132Thr) c.264_265delinsCG (n.264_265delinsCG) c.*33_*34delinsCG (n.*33_*34delinsCG) n.2522_2523delinsCG n.444_445delinsCG n.318_319delinsCG c.194_195delinsCG (p.Ile65Thr) | |
14 | g.90404485_90404486delinsGC | CA2579773905 | CALM1 | c.392_393delinsGC (p.Ile131Ser) c.284_285delinsGC (p.Ile95Ser) c.395_396delinsGC (p.Ile132Ser) c.264_265delinsGC (n.264_265delinsGC) c.*33_*34delinsGC (n.*33_*34delinsGC) n.2522_2523delinsGC n.444_445delinsGC n.318_319delinsGC c.194_195delinsGC (p.Ile65Ser) | |
14 | g.90404485_90404486delinsGG | CA2579769918 | CALM1 | c.392_393delinsGG (p.Ile131Arg) c.284_285delinsGG (p.Ile95Arg) c.395_396delinsGG (p.Ile132Arg) c.264_265delinsGG (n.264_265delinsGG) c.*33_*34delinsGG (n.*33_*34delinsGG) n.2522_2523delinsGG n.444_445delinsGG n.318_319delinsGG c.194_195delinsGG (p.Ile65Arg) | |
14 | g.90404486T>A | CA487760390 | CALM1 | c.393T>A (p.Ile131=) c.285T>A (p.Ile95=) c.396T>A (p.Ile132=) c.265T>A (n.265T>A) c.*34T>A (n.*34T>A) n.2523T>A n.445T>A n.319T>A c.195T>A (p.Ile65=) | gnomAD v4 |
14 | g.90404486T>C | CA487760392 | CALM1 | c.393T>C (p.Ile131=) c.285T>C (p.Ile95=) c.396T>C (p.Ile132=) c.265T>C (n.265T>C) c.*34T>C (n.*34T>C) n.2523T>C n.445T>C n.319T>C c.195T>C (p.Ile65=) | |
14 | g.90404486T>G | CA390690351 | CALM1 | c.393T>G (p.Ile131Met) c.285T>G (p.Ile95Met) c.396T>G (p.Ile132Met) c.265T>G (n.265T>G) c.*34T>G (n.*34T>G) n.2523T>G n.445T>G n.319T>G c.195T>G (p.Ile65Met) | |
14 | g.90404487G>A | CA390690352 | CALM1 | c.394G>A (p.Asp132Asn) c.286G>A (p.Asp96Asn) c.397G>A (p.Asp133Asn) c.266G>A (n.266G>A) c.*35G>A (n.*35G>A) n.2524G>A n.446G>A n.320G>A c.196G>A (p.Asp66Asn) | ClinVar dbSNP |
14 | g.90404487G>C | CA390690353 | CALM1 | c.394G>C (p.Asp132His) c.286G>C (p.Asp96His) c.397G>C (p.Asp133His) c.266G>C (n.266G>C) c.*35G>C (n.*35G>C) n.2524G>C n.446G>C n.320G>C c.196G>C (p.Asp66His) | |
14 | g.90404487G= | CA2154484166 | CALM1 | c.394G= (p.Asp132=) c.286G= (p.Asp96=) c.397G= (p.Asp133=) c.266G= (n.266G=) c.*35G= (n.*35G=) n.2524G= n.446G= n.320G= c.196G= (p.Asp66=) | |
14 | g.90404487G>T | CA390690354 | CALM1 | c.394G>T (p.Asp132Tyr) c.286G>T (p.Asp96Tyr) c.397G>T (p.Asp133Tyr) c.266G>T (n.266G>T) c.*35G>T (n.*35G>T) n.2524G>T n.446G>T n.320G>T c.196G>T (p.Asp66Tyr) | |
14 | g.90404487_90404488delinsAC | CA2579773764 | CALM1 | c.394_395delinsAC (p.Asp132Thr) c.286_287delinsAC (p.Asp96Thr) c.397_398delinsAC (p.Asp133Thr) c.266_267delinsAC (n.266_267delinsAC) c.*35_*36delinsAC (n.*35_*36delinsAC) n.2524_2525delinsAC n.446_447delinsAC n.320_321delinsAC c.196_197delinsAC (p.Asp66Thr) | |
14 | g.90404487_90404488delinsAG | CA2579773016 | CALM1 | c.394_395delinsAG (p.Asp132Ser) c.286_287delinsAG (p.Asp96Ser) c.397_398delinsAG (p.Asp133Ser) c.266_267delinsAG (n.266_267delinsAG) c.*35_*36delinsAG (n.*35_*36delinsAG) n.2524_2525delinsAG n.446_447delinsAG n.320_321delinsAG c.196_197delinsAG (p.Asp66Ser) | |
14 | g.90404487_90404488delinsAT | CA2579770722 | CALM1 | c.394_395delinsAT (p.Asp132Ile) c.286_287delinsAT (p.Asp96Ile) c.397_398delinsAT (p.Asp133Ile) c.266_267delinsAT (n.266_267delinsAT) c.*35_*36delinsAT (n.*35_*36delinsAT) n.2524_2525delinsAT n.446_447delinsAT n.320_321delinsAT c.196_197delinsAT (p.Asp66Ile) | |
14 | g.90404487_90404488delinsCC | CA2579770387 | CALM1 | c.394_395delinsCC (p.Asp132Pro) c.286_287delinsCC (p.Asp96Pro) c.397_398delinsCC (p.Asp133Pro) c.266_267delinsCC (n.266_267delinsCC) c.*35_*36delinsCC (n.*35_*36delinsCC) n.2524_2525delinsCC n.446_447delinsCC n.320_321delinsCC c.196_197delinsCC (p.Asp66Pro) | |
14 | g.90404487_90404488delinsCG | CA2579773505 | CALM1 | c.394_395delinsCG (p.Asp132Arg) c.286_287delinsCG (p.Asp96Arg) c.397_398delinsCG (p.Asp133Arg) c.266_267delinsCG (n.266_267delinsCG) c.*35_*36delinsCG (n.*35_*36delinsCG) n.2524_2525delinsCG n.446_447delinsCG n.320_321delinsCG c.196_197delinsCG (p.Asp66Arg) | |
14 | g.90404487_90404488delinsCT | CA2579770371 | CALM1 | c.394_395delinsCT (p.Asp132Leu) c.286_287delinsCT (p.Asp96Leu) c.397_398delinsCT (p.Asp133Leu) c.266_267delinsCT (n.266_267delinsCT) c.*35_*36delinsCT (n.*35_*36delinsCT) n.2524_2525delinsCT n.446_447delinsCT n.320_321delinsCT c.196_197delinsCT (p.Asp66Leu) | |
14 | g.90404487_90404488delinsTC | CA2579770934 | CALM1 | c.394_395delinsTC (p.Asp132Ser) c.286_287delinsTC (p.Asp96Ser) c.397_398delinsTC (p.Asp133Ser) c.266_267delinsTC (n.266_267delinsTC) c.*35_*36delinsTC (n.*35_*36delinsTC) n.2524_2525delinsTC n.446_447delinsTC n.320_321delinsTC c.196_197delinsTC (p.Asp66Ser) | |
14 | g.90404487_90404488delinsTG | CA2579773051 | CALM1 | c.394_395delinsTG (p.Asp132Cys) c.286_287delinsTG (p.Asp96Cys) c.397_398delinsTG (p.Asp133Cys) c.266_267delinsTG (n.266_267delinsTG) c.*35_*36delinsTG (n.*35_*36delinsTG) n.2524_2525delinsTG n.446_447delinsTG n.320_321delinsTG c.196_197delinsTG (p.Asp66Cys) | |
14 | g.90404487_90404488delinsTT | CA2579772428 | CALM1 | c.394_395delinsTT (p.Asp132Phe) c.286_287delinsTT (p.Asp96Phe) c.397_398delinsTT (p.Asp133Phe) c.266_267delinsTT (n.266_267delinsTT) c.*35_*36delinsTT (n.*35_*36delinsTT) n.2524_2525delinsTT n.446_447delinsTT n.320_321delinsTT c.196_197delinsTT (p.Asp66Phe) | |
14 | g.90404487_90404489delinsAAA | CA2579773201 | CALM1 | c.394_396delinsAAA (p.Asp132Lys) c.286_288delinsAAA (p.Asp96Lys) c.397_399delinsAAA (p.Asp133Lys) c.266_268delinsAAA (n.266_268delinsAAA) c.*35_*37delinsAAA (n.*35_*37delinsAAA) n.2524_2526delinsAAA n.446_448delinsAAA n.320_322delinsAAA c.196_198delinsAAA (p.Asp66Lys) | |
14 | g.90404487_90404489delinsAAC | CA2579773709 | CALM1 | c.394_396delinsAAC (p.Asp132Asn) c.286_288delinsAAC (p.Asp96Asn) c.397_399delinsAAC (p.Asp133Asn) c.266_268delinsAAC (n.266_268delinsAAC) c.*35_*37delinsAAC (n.*35_*37delinsAAC) n.2524_2526delinsAAC n.446_448delinsAAC n.320_322delinsAAC c.196_198delinsAAC (p.Asp66Asn) | |
14 | g.90404487_90404489delinsAAG | CA2579769765 | CALM1 | c.394_396delinsAAG (p.Asp132Lys) c.286_288delinsAAG (p.Asp96Lys) c.397_399delinsAAG (p.Asp133Lys) c.266_268delinsAAG (n.266_268delinsAAG) c.*35_*37delinsAAG (n.*35_*37delinsAAG) n.2524_2526delinsAAG n.446_448delinsAAG n.320_322delinsAAG c.196_198delinsAAG (p.Asp66Lys) | |
14 | g.90404487_90404489delinsACG | CA2579773605 | CALM1 | c.394_396delinsACG (p.Asp132Thr) c.286_288delinsACG (p.Asp96Thr) c.397_399delinsACG (p.Asp133Thr) c.266_268delinsACG (n.266_268delinsACG) c.*35_*37delinsACG (n.*35_*37delinsACG) n.2524_2526delinsACG n.446_448delinsACG n.320_322delinsACG c.196_198delinsACG (p.Asp66Thr) | |
14 | g.90404487_90404489delinsAGG | CA2579773672 | CALM1 | c.394_396delinsAGG (p.Asp132Arg) c.286_288delinsAGG (p.Asp96Arg) c.397_399delinsAGG (p.Asp133Arg) c.266_268delinsAGG (n.266_268delinsAGG) c.*35_*37delinsAGG (n.*35_*37delinsAGG) n.2524_2526delinsAGG n.446_448delinsAGG n.320_322delinsAGG c.196_198delinsAGG (p.Asp66Arg) | |
14 | g.90404487_90404489delinsCAC | CA2579770215 | CALM1 | c.394_396delinsCAC (p.Asp132His) c.286_288delinsCAC (p.Asp96His) c.397_399delinsCAC (p.Asp133His) c.266_268delinsCAC (n.266_268delinsCAC) c.*35_*37delinsCAC (n.*35_*37delinsCAC) n.2524_2526delinsCAC n.446_448delinsCAC n.320_322delinsCAC c.196_198delinsCAC (p.Asp66His) | |
14 | g.90404487_90404489delinsCAG | CA2579770644 | CALM1 | c.394_396delinsCAG (p.Asp132Gln) c.286_288delinsCAG (p.Asp96Gln) c.397_399delinsCAG (p.Asp133Gln) c.266_268delinsCAG (n.266_268delinsCAG) c.*35_*37delinsCAG (n.*35_*37delinsCAG) n.2524_2526delinsCAG n.446_448delinsCAG n.320_322delinsCAG c.196_198delinsCAG (p.Asp66Gln) | |
14 | g.90404487_90404489delinsCCG | CA2579772248 | CALM1 | c.394_396delinsCCG (p.Asp132Pro) c.286_288delinsCCG (p.Asp96Pro) c.397_399delinsCCG (p.Asp133Pro) c.266_268delinsCCG (n.266_268delinsCCG) c.*35_*37delinsCCG (n.*35_*37delinsCCG) n.2524_2526delinsCCG n.446_448delinsCCG n.320_322delinsCCG c.196_198delinsCCG (p.Asp66Pro) | |
14 | g.90404487_90404489delinsCGG | CA2579770628 | CALM1 | c.394_396delinsCGG (p.Asp132Arg) c.286_288delinsCGG (p.Asp96Arg) c.397_399delinsCGG (p.Asp133Arg) c.266_268delinsCGG (n.266_268delinsCGG) c.*35_*37delinsCGG (n.*35_*37delinsCGG) n.2524_2526delinsCGG n.446_448delinsCGG n.320_322delinsCGG c.196_198delinsCGG (p.Asp66Arg) | |
14 | g.90404487_90404489delinsCTG | CA2579773404 | CALM1 | c.394_396delinsCTG (p.Asp132Leu) c.286_288delinsCTG (p.Asp96Leu) c.397_399delinsCTG (p.Asp133Leu) c.266_268delinsCTG (n.266_268delinsCTG) c.*35_*37delinsCTG (n.*35_*37delinsCTG) n.2524_2526delinsCTG n.446_448delinsCTG n.320_322delinsCTG c.196_198delinsCTG (p.Asp66Leu) | |
14 | g.90404487_90404489delinsTAC | CA2579774071 | CALM1 | c.394_396delinsTAC (p.Asp132Tyr) c.286_288delinsTAC (p.Asp96Tyr) c.397_399delinsTAC (p.Asp133Tyr) c.266_268delinsTAC (n.266_268delinsTAC) c.*35_*37delinsTAC (n.*35_*37delinsTAC) n.2524_2526delinsTAC n.446_448delinsTAC n.320_322delinsTAC c.196_198delinsTAC (p.Asp66Tyr) | |
14 | g.90404487_90404489delinsTAG | CA2579773991 | CALM1 | c.394_396delinsTAG (p.Asp132Ter) c.286_288delinsTAG (p.Asp96Ter) c.397_399delinsTAG (p.Asp133Ter) c.266_268delinsTAG (n.266_268delinsTAG) c.*35_*37delinsTAG (n.*35_*37delinsTAG) n.2524_2526delinsTAG n.446_448delinsTAG n.320_322delinsTAG c.196_198delinsTAG (p.Asp66Ter) | |
14 | g.90404487_90404489delinsTCG | CA2579770092 | CALM1 | c.394_396delinsTCG (p.Asp132Ser) c.286_288delinsTCG (p.Asp96Ser) c.397_399delinsTCG (p.Asp133Ser) c.266_268delinsTCG (n.266_268delinsTCG) c.*35_*37delinsTCG (n.*35_*37delinsTCG) n.2524_2526delinsTCG n.446_448delinsTCG n.320_322delinsTCG c.196_198delinsTCG (p.Asp66Ser) | |
14 | g.90404487_90404489delinsTGG | CA2579770779 | CALM1 | c.394_396delinsTGG (p.Asp132Trp) c.286_288delinsTGG (p.Asp96Trp) c.397_399delinsTGG (p.Asp133Trp) c.266_268delinsTGG (n.266_268delinsTGG) c.*35_*37delinsTGG (n.*35_*37delinsTGG) n.2524_2526delinsTGG n.446_448delinsTGG n.320_322delinsTGG c.196_198delinsTGG (p.Asp66Trp) | |
14 | g.90404487_90404489delinsTTG | CA2579771821 | CALM1 | c.394_396delinsTTG (p.Asp132Leu) c.286_288delinsTTG (p.Asp96Leu) c.397_399delinsTTG (p.Asp133Leu) c.266_268delinsTTG (n.266_268delinsTTG) c.*35_*37delinsTTG (n.*35_*37delinsTTG) n.2524_2526delinsTTG n.446_448delinsTTG n.320_322delinsTTG c.196_198delinsTTG (p.Asp66Leu) | |
14 | g.90404488A= | CA2154484172 | CALM1 | c.395A= (p.Asp132=) c.287A= (p.Asp96=) c.398A= (p.Asp133=) c.267A= (n.267A=) c.*36A= (n.*36A=) n.2525A= n.447A= n.321A= c.197A= (p.Asp66=) | |
14 | g.90404488A>C | CA390690355 | CALM1 | c.395A>C (p.Asp132Ala) c.287A>C (p.Asp96Ala) c.398A>C (p.Asp133Ala) c.267A>C (n.267A>C) c.*36A>C (n.*36A>C) n.2525A>C n.447A>C n.321A>C c.197A>C (p.Asp66Ala) | |
14 | g.90404488A>G | CA390690356 | CALM1 | c.395A>G (p.Asp132Gly) c.287A>G (p.Asp96Gly) c.398A>G (p.Asp133Gly) c.267A>G (n.267A>G) c.*36A>G (n.*36A>G) n.2525A>G n.447A>G n.321A>G c.197A>G (p.Asp66Gly) | ClinVar dbSNP |
14 | g.90404488A>T | CA390690357 | CALM1 | c.395A>T (p.Asp132Val) c.287A>T (p.Asp96Val) c.398A>T (p.Asp133Val) c.267A>T (n.267A>T) c.*36A>T (n.*36A>T) n.2525A>T n.447A>T n.321A>T c.197A>T (p.Asp66Val) | ClinVar dbSNP |
14 | g.90404488_90404489delinsCA | CA2579771263 | CALM1 | c.395_396delinsCA (p.Asp132Ala) c.287_288delinsCA (p.Asp96Ala) c.398_399delinsCA (p.Asp133Ala) c.267_268delinsCA (n.267_268delinsCA) c.*36_*37delinsCA (n.*36_*37delinsCA) n.2525_2526delinsCA n.447_448delinsCA n.321_322delinsCA c.197_198delinsCA (p.Asp66Ala) | |
14 | g.90404488_90404489delinsCG | CA2579770089 | CALM1 | c.395_396delinsCG (p.Asp132Ala) c.287_288delinsCG (p.Asp96Ala) c.398_399delinsCG (p.Asp133Ala) c.267_268delinsCG (n.267_268delinsCG) c.*36_*37delinsCG (n.*36_*37delinsCG) n.2525_2526delinsCG n.447_448delinsCG n.321_322delinsCG c.197_198delinsCG (p.Asp66Ala) | |
14 | g.90404488_90404489delinsGA | CA2579770616 | CALM1 | c.395_396delinsGA (p.Asp132Gly) c.287_288delinsGA (p.Asp96Gly) c.398_399delinsGA (p.Asp133Gly) c.267_268delinsGA (n.267_268delinsGA) c.*36_*37delinsGA (n.*36_*37delinsGA) n.2525_2526delinsGA n.447_448delinsGA n.321_322delinsGA c.197_198delinsGA (p.Asp66Gly) | |
14 | g.90404488_90404489delinsGC | CA2579772082 | CALM1 | c.395_396delinsGC (p.Asp132Gly) c.287_288delinsGC (p.Asp96Gly) c.398_399delinsGC (p.Asp133Gly) c.267_268delinsGC (n.267_268delinsGC) c.*36_*37delinsGC (n.*36_*37delinsGC) n.2525_2526delinsGC n.447_448delinsGC n.321_322delinsGC c.197_198delinsGC (p.Asp66Gly) | |
14 | g.90404488_90404489delinsGG | CA2579770113 | CALM1 | c.395_396delinsGG (p.Asp132Gly) c.287_288delinsGG (p.Asp96Gly) c.398_399delinsGG (p.Asp133Gly) c.267_268delinsGG (n.267_268delinsGG) c.*36_*37delinsGG (n.*36_*37delinsGG) n.2525_2526delinsGG n.447_448delinsGG n.321_322delinsGG c.197_198delinsGG (p.Asp66Gly) | |
14 | g.90404488_90404489delinsTC | CA2579772222 | CALM1 | c.395_396delinsTC (p.Asp132Val) c.287_288delinsTC (p.Asp96Val) c.398_399delinsTC (p.Asp133Val) c.267_268delinsTC (n.267_268delinsTC) c.*36_*37delinsTC (n.*36_*37delinsTC) n.2525_2526delinsTC n.447_448delinsTC n.321_322delinsTC c.197_198delinsTC (p.Asp66Val) | |
14 | g.90404488_90404489delinsTG | CA2579770017 | CALM1 | c.395_396delinsTG (p.Asp132Val) c.287_288delinsTG (p.Asp96Val) c.398_399delinsTG (p.Asp133Val) c.267_268delinsTG (n.267_268delinsTG) c.*36_*37delinsTG (n.*36_*37delinsTG) n.2525_2526delinsTG n.447_448delinsTG n.321_322delinsTG c.197_198delinsTG (p.Asp66Val) | |
14 | g.90404489T>A | CA390690358 | CALM1 | c.396T>A (p.Asp132Glu) c.288T>A (p.Asp96Glu) c.399T>A (p.Asp133Glu) c.268T>A (n.268T>A) c.*37T>A (n.*37T>A) n.2526T>A n.448T>A n.322T>A c.198T>A (p.Asp66Glu) | |
14 | g.90404489T>C | CA487760405 | CALM1 | c.396T>C (p.Asp132=) c.288T>C (p.Asp96=) c.399T>C (p.Asp133=) c.268T>C (n.268T>C) c.*37T>C (n.*37T>C) n.2526T>C n.448T>C n.322T>C c.198T>C (p.Asp66=) | gnomAD v4 |
14 | g.90404489T>G | CA390690359 | CALM1 | c.396T>G (p.Asp132Glu) c.288T>G (p.Asp96Glu) c.399T>G (p.Asp133Glu) c.268T>G (n.268T>G) c.*37T>G (n.*37T>G) n.2526T>G n.448T>G n.322T>G c.198T>G (p.Asp66Glu) | |
14 | g.90404490G>A | CA390690362 | CALM1 | c.397G>A (p.Gly133Arg) c.289G>A (p.Gly97Arg) c.400G>A (p.Gly134Arg) c.269G>A (n.269G>A) c.*38G>A (n.*38G>A) n.2527G>A n.449G>A n.323G>A c.199G>A (p.Gly67Arg) | |
14 | g.90404490G>C | CA390690361 | CALM1 | c.397G>C (p.Gly133Arg) c.289G>C (p.Gly97Arg) c.400G>C (p.Gly134Arg) c.269G>C (n.269G>C) c.*38G>C (n.*38G>C) n.2527G>C n.449G>C n.323G>C c.199G>C (p.Gly67Arg) | |
14 | g.90404490G>T | CA390690360 | CALM1 | c.397G>T (p.Gly133Ter) c.289G>T (p.Gly97Ter) c.400G>T (p.Gly134Ter) c.269G>T (n.269G>T) c.*38G>T (n.*38G>T) n.2527G>T n.449G>T n.323G>T c.199G>T (p.Gly67Ter) | |
14 | g.90404490_90404491delinsAA | CA2579771356 | CALM1 | c.397_398delinsAA (p.Gly133Lys) c.289_290delinsAA (p.Gly97Lys) c.400_401delinsAA (p.Gly134Lys) c.269_270delinsAA (n.269_270delinsAA) c.*38_*39delinsAA (n.*38_*39delinsAA) n.2527_2528delinsAA n.449_450delinsAA n.323_324delinsAA c.199_200delinsAA (p.Gly67Lys) | |
14 | g.90404490_90404491delinsAC | CA2579774329 | CALM1 | c.397_398delinsAC (p.Gly133Thr) c.289_290delinsAC (p.Gly97Thr) c.400_401delinsAC (p.Gly134Thr) c.269_270delinsAC (n.269_270delinsAC) c.*38_*39delinsAC (n.*38_*39delinsAC) n.2527_2528delinsAC n.449_450delinsAC n.323_324delinsAC c.199_200delinsAC (p.Gly67Thr) | |
14 | g.90404490_90404491delinsAT | CA2579771619 | CALM1 | c.397_398delinsAT (p.Gly133Ile) c.289_290delinsAT (p.Gly97Ile) c.400_401delinsAT (p.Gly134Ile) c.269_270delinsAT (n.269_270delinsAT) c.*38_*39delinsAT (n.*38_*39delinsAT) n.2527_2528delinsAT n.449_450delinsAT n.323_324delinsAT c.199_200delinsAT (p.Gly67Ile) | |
14 | g.90404490_90404491delinsCC | CA2579773037 | CALM1 | c.397_398delinsCC (p.Gly133Pro) c.289_290delinsCC (p.Gly97Pro) c.400_401delinsCC (p.Gly134Pro) c.269_270delinsCC (n.269_270delinsCC) c.*38_*39delinsCC (n.*38_*39delinsCC) n.2527_2528delinsCC n.449_450delinsCC n.323_324delinsCC c.199_200delinsCC (p.Gly67Pro) | |
14 | g.90404490_90404491delinsCT | CA2579772214 | CALM1 | c.397_398delinsCT (p.Gly133Leu) c.289_290delinsCT (p.Gly97Leu) c.400_401delinsCT (p.Gly134Leu) c.269_270delinsCT (n.269_270delinsCT) c.*38_*39delinsCT (n.*38_*39delinsCT) n.2527_2528delinsCT n.449_450delinsCT n.323_324delinsCT c.199_200delinsCT (p.Gly67Leu) | |
14 | g.90404490_90404491delinsTA | CA2579773077 | CALM1 | c.397_398delinsTA (p.Gly133Ter) c.289_290delinsTA (p.Gly97Ter) c.400_401delinsTA (p.Gly134Ter) c.269_270delinsTA (n.269_270delinsTA) c.*38_*39delinsTA (n.*38_*39delinsTA) n.2527_2528delinsTA n.449_450delinsTA n.323_324delinsTA c.199_200delinsTA (p.Gly67Ter) | |
14 | g.90404490_90404491delinsTC | CA2579771826 | CALM1 | c.397_398delinsTC (p.Gly133Ser) c.289_290delinsTC (p.Gly97Ser) c.400_401delinsTC (p.Gly134Ser) c.269_270delinsTC (n.269_270delinsTC) c.*38_*39delinsTC (n.*38_*39delinsTC) n.2527_2528delinsTC n.449_450delinsTC n.323_324delinsTC c.199_200delinsTC (p.Gly67Ser) | |
14 | g.90404490_90404491delinsTT | CA2579774307 | CALM1 | c.397_398delinsTT (p.Gly133Leu) c.289_290delinsTT (p.Gly97Leu) c.400_401delinsTT (p.Gly134Leu) c.269_270delinsTT (n.269_270delinsTT) c.*38_*39delinsTT (n.*38_*39delinsTT) n.2527_2528delinsTT n.449_450delinsTT n.323_324delinsTT c.199_200delinsTT (p.Gly67Leu) | |
14 | g.90404490_90404492delinsAAC | CA2579773421 | CALM1 | c.397_399delinsAAC (p.Gly133Asn) c.289_291delinsAAC (p.Gly97Asn) c.400_402delinsAAC (p.Gly134Asn) c.269_271delinsAAC (n.269_271delinsAAC) c.*38_*40delinsAAC (n.*38_*40delinsAAC) n.2527_2529delinsAAC n.449_451delinsAAC n.323_325delinsAAC c.199_201delinsAAC (p.Gly67Asn) | |
14 | g.90404490_90404492delinsAAG | CA2579773559 | CALM1 | c.397_399delinsAAG (p.Gly133Lys) c.289_291delinsAAG (p.Gly97Lys) c.400_402delinsAAG (p.Gly134Lys) c.269_271delinsAAG (n.269_271delinsAAG) c.*38_*40delinsAAG (n.*38_*40delinsAAG) n.2527_2529delinsAAG n.449_451delinsAAG n.323_325delinsAAG c.199_201delinsAAG (p.Gly67Lys) | |
14 | g.90404490_90404492delinsAAT | CA2579771429 | CALM1 | c.397_399delinsAAT (p.Gly133Asn) c.289_291delinsAAT (p.Gly97Asn) c.400_402delinsAAT (p.Gly134Asn) c.269_271delinsAAT (n.269_271delinsAAT) c.*38_*40delinsAAT (n.*38_*40delinsAAT) n.2527_2529delinsAAT n.449_451delinsAAT n.323_325delinsAAT c.199_201delinsAAT (p.Gly67Asn) | |
14 | g.90404490_90404492delinsACG | CA2579770154 | CALM1 | c.397_399delinsACG (p.Gly133Thr) c.289_291delinsACG (p.Gly97Thr) c.400_402delinsACG (p.Gly134Thr) c.269_271delinsACG (n.269_271delinsACG) c.*38_*40delinsACG (n.*38_*40delinsACG) n.2527_2529delinsACG n.449_451delinsACG n.323_325delinsACG c.199_201delinsACG (p.Gly67Thr) | |
14 | g.90404490_90404492delinsACT | CA2579770498 | CALM1 | c.397_399delinsACT (p.Gly133Thr) c.289_291delinsACT (p.Gly97Thr) c.400_402delinsACT (p.Gly134Thr) c.269_271delinsACT (n.269_271delinsACT) c.*38_*40delinsACT (n.*38_*40delinsACT) n.2527_2529delinsACT n.449_451delinsACT n.323_325delinsACT c.199_201delinsACT (p.Gly67Thr) | |
14 | g.90404490_90404492delinsAGC | CA2579771699 | CALM1 | c.397_399delinsAGC (p.Gly133Ser) c.289_291delinsAGC (p.Gly97Ser) c.400_402delinsAGC (p.Gly134Ser) c.269_271delinsAGC (n.269_271delinsAGC) c.*38_*40delinsAGC (n.*38_*40delinsAGC) n.2527_2529delinsAGC n.449_451delinsAGC n.323_325delinsAGC c.199_201delinsAGC (p.Gly67Ser) | |
14 | g.90404490_90404492delinsAGG | CA2579771406 | CALM1 | c.397_399delinsAGG (p.Gly133Arg) c.289_291delinsAGG (p.Gly97Arg) c.400_402delinsAGG (p.Gly134Arg) c.269_271delinsAGG (n.269_271delinsAGG) c.*38_*40delinsAGG (n.*38_*40delinsAGG) n.2527_2529delinsAGG n.449_451delinsAGG n.323_325delinsAGG c.199_201delinsAGG (p.Gly67Arg) | |
14 | g.90404490_90404492delinsAGT | CA2579773275 | CALM1 | c.397_399delinsAGT (p.Gly133Ser) c.289_291delinsAGT (p.Gly97Ser) c.400_402delinsAGT (p.Gly134Ser) c.269_271delinsAGT (n.269_271delinsAGT) c.*38_*40delinsAGT (n.*38_*40delinsAGT) n.2527_2529delinsAGT n.449_451delinsAGT n.323_325delinsAGT c.199_201delinsAGT (p.Gly67Ser) | |
14 | g.90404490_90404492delinsATG | CA2579771274 | CALM1 | c.397_399delinsATG (p.Gly133Met) c.289_291delinsATG (p.Gly97Met) c.400_402delinsATG (p.Gly134Met) c.269_271delinsATG (n.269_271delinsATG) c.*38_*40delinsATG (n.*38_*40delinsATG) n.2527_2529delinsATG n.449_451delinsATG n.323_325delinsATG c.199_201delinsATG (p.Gly67Met) | |
14 | g.90404490_90404492delinsATT | CA2579772711 | CALM1 | c.397_399delinsATT (p.Gly133Ile) c.289_291delinsATT (p.Gly97Ile) c.400_402delinsATT (p.Gly134Ile) c.269_271delinsATT (n.269_271delinsATT) c.*38_*40delinsATT (n.*38_*40delinsATT) n.2527_2529delinsATT n.449_451delinsATT n.323_325delinsATT c.199_201delinsATT (p.Gly67Ile) | |
14 | g.90404490_90404492delinsCAG | CA2579770531 | CALM1 | c.397_399delinsCAG (p.Gly133Gln) c.289_291delinsCAG (p.Gly97Gln) c.400_402delinsCAG (p.Gly134Gln) c.269_271delinsCAG (n.269_271delinsCAG) c.*38_*40delinsCAG (n.*38_*40delinsCAG) n.2527_2529delinsCAG n.449_451delinsCAG n.323_325delinsCAG c.199_201delinsCAG (p.Gly67Gln) | |
14 | g.90404490_90404492delinsCCG | CA2579770632 | CALM1 | c.397_399delinsCCG (p.Gly133Pro) c.289_291delinsCCG (p.Gly97Pro) c.400_402delinsCCG (p.Gly134Pro) c.269_271delinsCCG (n.269_271delinsCCG) c.*38_*40delinsCCG (n.*38_*40delinsCCG) n.2527_2529delinsCCG n.449_451delinsCCG n.323_325delinsCCG c.199_201delinsCCG (p.Gly67Pro) | |
14 | g.90404490_90404492delinsCGG | CA2579770638 | CALM1 | c.397_399delinsCGG (p.Gly133Arg) c.289_291delinsCGG (p.Gly97Arg) c.400_402delinsCGG (p.Gly134Arg) c.269_271delinsCGG (n.269_271delinsCGG) c.*38_*40delinsCGG (n.*38_*40delinsCGG) n.2527_2529delinsCGG n.449_451delinsCGG n.323_325delinsCGG c.199_201delinsCGG (p.Gly67Arg) | |
14 | g.90404490_90404492delinsCGT | CA2579773032 | CALM1 | c.397_399delinsCGT (p.Gly133Arg) c.289_291delinsCGT (p.Gly97Arg) c.400_402delinsCGT (p.Gly134Arg) c.269_271delinsCGT (n.269_271delinsCGT) c.*38_*40delinsCGT (n.*38_*40delinsCGT) n.2527_2529delinsCGT n.449_451delinsCGT n.323_325delinsCGT c.199_201delinsCGT (p.Gly67Arg) | |
14 | g.90404490_90404492delinsCTG | CA2579772997 | CALM1 | c.397_399delinsCTG (p.Gly133Leu) c.289_291delinsCTG (p.Gly97Leu) c.400_402delinsCTG (p.Gly134Leu) c.269_271delinsCTG (n.269_271delinsCTG) c.*38_*40delinsCTG (n.*38_*40delinsCTG) n.2527_2529delinsCTG n.449_451delinsCTG n.323_325delinsCTG c.199_201delinsCTG (p.Gly67Leu) | |
14 | g.90404490_90404492delinsCTT | CA2579772529 | CALM1 | c.397_399delinsCTT (p.Gly133Leu) c.289_291delinsCTT (p.Gly97Leu) c.400_402delinsCTT (p.Gly134Leu) c.269_271delinsCTT (n.269_271delinsCTT) c.*38_*40delinsCTT (n.*38_*40delinsCTT) n.2527_2529delinsCTT n.449_451delinsCTT n.323_325delinsCTT c.199_201delinsCTT (p.Gly67Leu) | |
14 | g.90404490_90404492delinsTAG | CA2579772685 | CALM1 | c.397_399delinsTAG (p.Gly133Ter) c.289_291delinsTAG (p.Gly97Ter) c.400_402delinsTAG (p.Gly134Ter) c.269_271delinsTAG (n.269_271delinsTAG) c.*38_*40delinsTAG (n.*38_*40delinsTAG) n.2527_2529delinsTAG n.449_451delinsTAG n.323_325delinsTAG c.199_201delinsTAG (p.Gly67Ter) | |
14 | g.90404490_90404492delinsTAT | CA2579772824 | CALM1 | c.397_399delinsTAT (p.Gly133Tyr) c.289_291delinsTAT (p.Gly97Tyr) c.400_402delinsTAT (p.Gly134Tyr) c.269_271delinsTAT (n.269_271delinsTAT) c.*38_*40delinsTAT (n.*38_*40delinsTAT) n.2527_2529delinsTAT n.449_451delinsTAT n.323_325delinsTAT c.199_201delinsTAT (p.Gly67Tyr) | |
14 | g.90404490_90404492delinsTCG | CA2579771051 | CALM1 | c.397_399delinsTCG (p.Gly133Ser) c.289_291delinsTCG (p.Gly97Ser) c.400_402delinsTCG (p.Gly134Ser) c.269_271delinsTCG (n.269_271delinsTCG) c.*38_*40delinsTCG (n.*38_*40delinsTCG) n.2527_2529delinsTCG n.449_451delinsTCG n.323_325delinsTCG c.199_201delinsTCG (p.Gly67Ser) | |
14 | g.90404490_90404492delinsTCT | CA2579772064 | CALM1 | c.397_399delinsTCT (p.Gly133Ser) c.289_291delinsTCT (p.Gly97Ser) c.400_402delinsTCT (p.Gly134Ser) c.269_271delinsTCT (n.269_271delinsTCT) c.*38_*40delinsTCT (n.*38_*40delinsTCT) n.2527_2529delinsTCT n.449_451delinsTCT n.323_325delinsTCT c.199_201delinsTCT (p.Gly67Ser) | |
14 | g.90404490_90404492delinsTGG | CA2579772790 | CALM1 | c.397_399delinsTGG (p.Gly133Trp) c.289_291delinsTGG (p.Gly97Trp) c.400_402delinsTGG (p.Gly134Trp) c.269_271delinsTGG (n.269_271delinsTGG) c.*38_*40delinsTGG (n.*38_*40delinsTGG) n.2527_2529delinsTGG n.449_451delinsTGG n.323_325delinsTGG c.199_201delinsTGG (p.Gly67Trp) | |
14 | g.90404490_90404492delinsTGT | CA2579771944 | CALM1 | c.397_399delinsTGT (p.Gly133Cys) c.289_291delinsTGT (p.Gly97Cys) c.400_402delinsTGT (p.Gly134Cys) c.269_271delinsTGT (n.269_271delinsTGT) c.*38_*40delinsTGT (n.*38_*40delinsTGT) n.2527_2529delinsTGT n.449_451delinsTGT n.323_325delinsTGT c.199_201delinsTGT (p.Gly67Cys) | |
14 | g.90404490_90404492delinsTTG | CA2579771854 | CALM1 | c.397_399delinsTTG (p.Gly133Leu) c.289_291delinsTTG (p.Gly97Leu) c.400_402delinsTTG (p.Gly134Leu) c.269_271delinsTTG (n.269_271delinsTTG) c.*38_*40delinsTTG (n.*38_*40delinsTTG) n.2527_2529delinsTTG n.449_451delinsTTG n.323_325delinsTTG c.199_201delinsTTG (p.Gly67Leu) | |
14 | g.90404490_90404492delinsTTT | CA2579773606 | CALM1 | c.397_399delinsTTT (p.Gly133Phe) c.289_291delinsTTT (p.Gly97Phe) c.400_402delinsTTT (p.Gly134Phe) c.269_271delinsTTT (n.269_271delinsTTT) c.*38_*40delinsTTT (n.*38_*40delinsTTT) n.2527_2529delinsTTT n.449_451delinsTTT n.323_325delinsTTT c.199_201delinsTTT (p.Gly67Phe) | |
14 | g.90404491G>A | CA390690363 | CALM1 | c.398G>A (p.Gly133Glu) c.290G>A (p.Gly97Glu) c.401G>A (p.Gly134Glu) c.270G>A (n.270G>A) c.*39G>A (n.*39G>A) n.2528G>A n.450G>A n.324G>A c.200G>A (p.Gly67Glu) | ClinVar dbSNP |
14 | g.90404491G>C | CA390690364 | CALM1 | c.398G>C (p.Gly133Ala) c.290G>C (p.Gly97Ala) c.401G>C (p.Gly134Ala) c.270G>C (n.270G>C) c.*39G>C (n.*39G>C) n.2528G>C n.450G>C n.324G>C c.200G>C (p.Gly67Ala) | ClinVar |
14 | g.90404491G= | CA2154484178 | CALM1 | c.398G= (p.Gly133=) c.290G= (p.Gly97=) c.401G= (p.Gly134=) c.270G= (n.270G=) c.*39G= (n.*39G=) n.2528G= n.450G= n.324G= c.200G= (p.Gly67=) | |
14 | g.90404491G>T | CA390690365 | CALM1 | c.398G>T (p.Gly133Val) c.290G>T (p.Gly97Val) c.401G>T (p.Gly134Val) c.270G>T (n.270G>T) c.*39G>T (n.*39G>T) n.2528G>T n.450G>T n.324G>T c.200G>T (p.Gly67Val) | |
14 | g.90404491_90404492delinsAC | CA2579772811 | CALM1 | c.398_399delinsAC (p.Gly133Asp) c.290_291delinsAC (p.Gly97Asp) c.401_402delinsAC (p.Gly134Asp) c.270_271delinsAC (n.270_271delinsAC) c.*39_*40delinsAC (n.*39_*40delinsAC) n.2528_2529delinsAC n.450_451delinsAC n.324_325delinsAC c.200_201delinsAC (p.Gly67Asp) | |
14 | g.90404491_90404492delinsAG | CA2579769784 | CALM1 | c.398_399delinsAG (p.Gly133Glu) c.290_291delinsAG (p.Gly97Glu) c.401_402delinsAG (p.Gly134Glu) c.270_271delinsAG (n.270_271delinsAG) c.*39_*40delinsAG (n.*39_*40delinsAG) n.2528_2529delinsAG n.450_451delinsAG n.324_325delinsAG c.200_201delinsAG (p.Gly67Glu) | |
14 | g.90404491_90404492delinsAT | CA2579774179 | CALM1 | c.398_399delinsAT (p.Gly133Asp) c.290_291delinsAT (p.Gly97Asp) c.401_402delinsAT (p.Gly134Asp) c.270_271delinsAT (n.270_271delinsAT) c.*39_*40delinsAT (n.*39_*40delinsAT) n.2528_2529delinsAT n.450_451delinsAT n.324_325delinsAT c.200_201delinsAT (p.Gly67Asp) | |
14 | g.90404491_90404492delinsCG | CA2579774220 | CALM1 | c.398_399delinsCG (p.Gly133Ala) c.290_291delinsCG (p.Gly97Ala) c.401_402delinsCG (p.Gly134Ala) c.270_271delinsCG (n.270_271delinsCG) c.*39_*40delinsCG (n.*39_*40delinsCG) n.2528_2529delinsCG n.450_451delinsCG n.324_325delinsCG c.200_201delinsCG (p.Gly67Ala) | |
14 | g.90404491_90404492delinsCT | CA2579773300 | CALM1 | c.398_399delinsCT (p.Gly133Ala) c.290_291delinsCT (p.Gly97Ala) c.401_402delinsCT (p.Gly134Ala) c.270_271delinsCT (n.270_271delinsCT) c.*39_*40delinsCT (n.*39_*40delinsCT) n.2528_2529delinsCT n.450_451delinsCT n.324_325delinsCT c.200_201delinsCT (p.Gly67Ala) | |
14 | g.90404491_90404492delinsTG | CA2579770145 | CALM1 | c.398_399delinsTG (p.Gly133Val) c.290_291delinsTG (p.Gly97Val) c.401_402delinsTG (p.Gly134Val) c.270_271delinsTG (n.270_271delinsTG) c.*39_*40delinsTG (n.*39_*40delinsTG) n.2528_2529delinsTG n.450_451delinsTG n.324_325delinsTG c.200_201delinsTG (p.Gly67Val) | |
14 | g.90404491_90404492delinsTT | CA2579772095 | CALM1 | c.398_399delinsTT (p.Gly133Val) c.290_291delinsTT (p.Gly97Val) c.401_402delinsTT (p.Gly134Val) c.270_271delinsTT (n.270_271delinsTT) c.*39_*40delinsTT (n.*39_*40delinsTT) n.2528_2529delinsTT n.450_451delinsTT n.324_325delinsTT c.200_201delinsTT (p.Gly67Val) | |
14 | g.90404492A>C | CA487760414 | CALM1 | c.399A>C (p.Gly133=) c.291A>C (p.Gly97=) c.402A>C (p.Gly134=) c.271A>C (n.271A>C) c.*40A>C (n.*40A>C) n.2529A>C n.451A>C n.325A>C c.201A>C (p.Gly67=) | |
14 | g.90404492A>G | CA487760416 | CALM1 | c.399A>G (p.Gly133=) c.291A>G (p.Gly97=) c.402A>G (p.Gly134=) c.271A>G (n.271A>G) c.*40A>G (n.*40A>G) n.2529A>G n.451A>G n.325A>G c.201A>G (p.Gly67=) | gnomAD v4 |
14 | g.90404492A>T | CA487760418 | CALM1 | c.399A>T (p.Gly133=) c.291A>T (p.Gly97=) c.402A>T (p.Gly134=) c.271A>T (n.271A>T) c.*40A>T (n.*40A>T) n.2529A>T n.451A>T n.325A>T c.201A>T (p.Gly67=) | |
14 | g.90404493G>A | CA390690366 | CALM1 | c.400G>A (p.Asp134Asn) c.292G>A (p.Asp98Asn) c.403G>A (p.Asp135Asn) c.272G>A (n.272G>A) c.*41G>A (n.*41G>A) n.2530G>A n.452G>A n.326G>A c.202G>A (p.Asp68Asn) | COSMIC |
14 | g.90404493G>C | CA390690367 | CALM1 | c.400G>C (p.Asp134His) c.292G>C (p.Asp98His) c.403G>C (p.Asp135His) c.272G>C (n.272G>C) c.*41G>C (n.*41G>C) n.2530G>C n.452G>C n.326G>C c.202G>C (p.Asp68His) | |
14 | g.90404493G>T | CA390690368 | CALM1 | c.400G>T (p.Asp134Tyr) c.292G>T (p.Asp98Tyr) c.403G>T (p.Asp135Tyr) c.272G>T (n.272G>T) c.*41G>T (n.*41G>T) n.2530G>T n.452G>T n.326G>T c.202G>T (p.Asp68Tyr) | |
14 | g.90404493_90404494delinsAC | CA2579771293 | CALM1 | c.400_401delinsAC (p.Asp134Thr) c.292_293delinsAC (p.Asp98Thr) c.403_404delinsAC (p.Asp135Thr) c.272_273delinsAC (n.272_273delinsAC) c.*41_*42delinsAC (n.*41_*42delinsAC) n.2530_2531delinsAC n.452_453delinsAC n.326_327delinsAC c.202_203delinsAC (p.Asp68Thr) | |
14 | g.90404493_90404494delinsAG | CA2579773030 | CALM1 | c.400_401delinsAG (p.Asp134Ser) c.292_293delinsAG (p.Asp98Ser) c.403_404delinsAG (p.Asp135Ser) c.272_273delinsAG (n.272_273delinsAG) c.*41_*42delinsAG (n.*41_*42delinsAG) n.2530_2531delinsAG n.452_453delinsAG n.326_327delinsAG c.202_203delinsAG (p.Asp68Ser) | |
14 | g.90404493_90404494delinsAT | CA2579774085 | CALM1 | c.400_401delinsAT (p.Asp134Ile) c.292_293delinsAT (p.Asp98Ile) c.403_404delinsAT (p.Asp135Ile) c.272_273delinsAT (n.272_273delinsAT) c.*41_*42delinsAT (n.*41_*42delinsAT) n.2530_2531delinsAT n.452_453delinsAT n.326_327delinsAT c.202_203delinsAT (p.Asp68Ile) | |
14 | g.90404493_90404494delinsCG | CA2579770034 | CALM1 | c.400_401delinsCG (p.Asp134Arg) c.292_293delinsCG (p.Asp98Arg) c.403_404delinsCG (p.Asp135Arg) c.272_273delinsCG (n.272_273delinsCG) c.*41_*42delinsCG (n.*41_*42delinsCG) n.2530_2531delinsCG n.452_453delinsCG n.326_327delinsCG c.202_203delinsCG (p.Asp68Arg) | |
14 | g.90404493_90404494delinsCT | CA2579771437 | CALM1 | c.400_401delinsCT (p.Asp134Leu) c.292_293delinsCT (p.Asp98Leu) c.403_404delinsCT (p.Asp135Leu) c.272_273delinsCT (n.272_273delinsCT) c.*41_*42delinsCT (n.*41_*42delinsCT) n.2530_2531delinsCT n.452_453delinsCT n.326_327delinsCT c.202_203delinsCT (p.Asp68Leu) | |
14 | g.90404493_90404494delinsTC | CA2579773580 | CALM1 | c.400_401delinsTC (p.Asp134Ser) c.292_293delinsTC (p.Asp98Ser) c.403_404delinsTC (p.Asp135Ser) c.272_273delinsTC (n.272_273delinsTC) c.*41_*42delinsTC (n.*41_*42delinsTC) n.2530_2531delinsTC n.452_453delinsTC n.326_327delinsTC c.202_203delinsTC (p.Asp68Ser) | |
14 | g.90404493_90404494delinsTG | CA2579772004 | CALM1 | c.400_401delinsTG (p.Asp134Cys) c.292_293delinsTG (p.Asp98Cys) c.403_404delinsTG (p.Asp135Cys) c.272_273delinsTG (n.272_273delinsTG) c.*41_*42delinsTG (n.*41_*42delinsTG) n.2530_2531delinsTG n.452_453delinsTG n.326_327delinsTG c.202_203delinsTG (p.Asp68Cys) | |
14 | g.90404493_90404494delinsTT | CA2579772389 | CALM1 | c.400_401delinsTT (p.Asp134Phe) c.292_293delinsTT (p.Asp98Phe) c.403_404delinsTT (p.Asp135Phe) c.272_273delinsTT (n.272_273delinsTT) c.*41_*42delinsTT (n.*41_*42delinsTT) n.2530_2531delinsTT n.452_453delinsTT n.326_327delinsTT c.202_203delinsTT (p.Asp68Phe) | |
14 | g.90404493_90404495delinsAAA | CA2579773459 | CALM1 | c.400_402delinsAAA (p.Asp134Lys) c.292_294delinsAAA (p.Asp98Lys) c.403_405delinsAAA (p.Asp135Lys) c.272_274delinsAAA (n.272_274delinsAAA) c.*41_*43delinsAAA (n.*41_*43delinsAAA) n.2530_2532delinsAAA n.452_454delinsAAA n.326_328delinsAAA c.202_204delinsAAA (p.Asp68Lys) | |
14 | g.90404493_90404495delinsAAG | CA2579773335 | CALM1 | c.400_402delinsAAG (p.Asp134Lys) c.292_294delinsAAG (p.Asp98Lys) c.403_405delinsAAG (p.Asp135Lys) c.272_274delinsAAG (n.272_274delinsAAG) c.*41_*43delinsAAG (n.*41_*43delinsAAG) n.2530_2532delinsAAG n.452_454delinsAAG n.326_328delinsAAG c.202_204delinsAAG (p.Asp68Lys) | |
14 | g.90404493_90404495delinsAAT | CA2579769763 | CALM1 | c.400_402delinsAAT (p.Asp134Asn) c.292_294delinsAAT (p.Asp98Asn) c.403_405delinsAAT (p.Asp135Asn) c.272_274delinsAAT (n.272_274delinsAAT) c.*41_*43delinsAAT (n.*41_*43delinsAAT) n.2530_2532delinsAAT n.452_454delinsAAT n.326_328delinsAAT c.202_204delinsAAT (p.Asp68Asn) | |
14 | g.90404493_90404495delinsAGG | CA2579771536 | CALM1 | c.400_402delinsAGG (p.Asp134Arg) c.292_294delinsAGG (p.Asp98Arg) c.403_405delinsAGG (p.Asp135Arg) c.272_274delinsAGG (n.272_274delinsAGG) c.*41_*43delinsAGG (n.*41_*43delinsAGG) n.2530_2532delinsAGG n.452_454delinsAGG n.326_328delinsAGG c.202_204delinsAGG (p.Asp68Arg) | |
14 | g.90404493_90404495delinsAGT | CA2579770399 | CALM1 | c.400_402delinsAGT (p.Asp134Ser) c.292_294delinsAGT (p.Asp98Ser) c.403_405delinsAGT (p.Asp135Ser) c.272_274delinsAGT (n.272_274delinsAGT) c.*41_*43delinsAGT (n.*41_*43delinsAGT) n.2530_2532delinsAGT n.452_454delinsAGT n.326_328delinsAGT c.202_204delinsAGT (p.Asp68Ser) | |
14 | g.90404493_90404495delinsATG | CA2579772752 | CALM1 | c.400_402delinsATG (p.Asp134Met) c.292_294delinsATG (p.Asp98Met) c.403_405delinsATG (p.Asp135Met) c.272_274delinsATG (n.272_274delinsATG) c.*41_*43delinsATG (n.*41_*43delinsATG) n.2530_2532delinsATG n.452_454delinsATG n.326_328delinsATG c.202_204delinsATG (p.Asp68Met) | |
14 | g.90404493_90404495delinsATT | CA2579771895 | CALM1 | c.400_402delinsATT (p.Asp134Ile) c.292_294delinsATT (p.Asp98Ile) c.403_405delinsATT (p.Asp135Ile) c.272_274delinsATT (n.272_274delinsATT) c.*41_*43delinsATT (n.*41_*43delinsATT) n.2530_2532delinsATT n.452_454delinsATT n.326_328delinsATT c.202_204delinsATT (p.Asp68Ile) | |
14 | g.90404493_90404495delinsCAG | CA2579772859 | CALM1 | c.400_402delinsCAG (p.Asp134Gln) c.292_294delinsCAG (p.Asp98Gln) c.403_405delinsCAG (p.Asp135Gln) c.272_274delinsCAG (n.272_274delinsCAG) c.*41_*43delinsCAG (n.*41_*43delinsCAG) n.2530_2532delinsCAG n.452_454delinsCAG n.326_328delinsCAG c.202_204delinsCAG (p.Asp68Gln) | |
14 | g.90404493_90404495delinsCAT | CA2579771570 | CALM1 | c.400_402delinsCAT (p.Asp134His) c.292_294delinsCAT (p.Asp98His) c.403_405delinsCAT (p.Asp135His) c.272_274delinsCAT (n.272_274delinsCAT) c.*41_*43delinsCAT (n.*41_*43delinsCAT) n.2530_2532delinsCAT n.452_454delinsCAT n.326_328delinsCAT c.202_204delinsCAT (p.Asp68His) | |
14 | g.90404493_90404495delinsCCG | CA2579769876 | CALM1 | c.400_402delinsCCG (p.Asp134Pro) c.292_294delinsCCG (p.Asp98Pro) c.403_405delinsCCG (p.Asp135Pro) c.272_274delinsCCG (n.272_274delinsCCG) c.*41_*43delinsCCG (n.*41_*43delinsCCG) n.2530_2532delinsCCG n.452_454delinsCCG n.326_328delinsCCG c.202_204delinsCCG (p.Asp68Pro) | |
14 | g.90404493_90404495delinsCCT | CA2579774088 | CALM1 | c.400_402delinsCCT (p.Asp134Pro) c.292_294delinsCCT (p.Asp98Pro) c.403_405delinsCCT (p.Asp135Pro) c.272_274delinsCCT (n.272_274delinsCCT) c.*41_*43delinsCCT (n.*41_*43delinsCCT) n.2530_2532delinsCCT n.452_454delinsCCT n.326_328delinsCCT c.202_204delinsCCT (p.Asp68Pro) | |
14 | g.90404493_90404495delinsCGG | CA2579772298 | CALM1 | c.400_402delinsCGG (p.Asp134Arg) c.292_294delinsCGG (p.Asp98Arg) c.403_405delinsCGG (p.Asp135Arg) c.272_274delinsCGG (n.272_274delinsCGG) c.*41_*43delinsCGG (n.*41_*43delinsCGG) n.2530_2532delinsCGG n.452_454delinsCGG n.326_328delinsCGG c.202_204delinsCGG (p.Asp68Arg) | |
14 | g.90404493_90404495delinsCGT | CA2579773502 | CALM1 | c.400_402delinsCGT (p.Asp134Arg) c.292_294delinsCGT (p.Asp98Arg) c.403_405delinsCGT (p.Asp135Arg) c.272_274delinsCGT (n.272_274delinsCGT) c.*41_*43delinsCGT (n.*41_*43delinsCGT) n.2530_2532delinsCGT n.452_454delinsCGT n.326_328delinsCGT c.202_204delinsCGT (p.Asp68Arg) | |
14 | g.90404493_90404495delinsCTT | CA2579773929 | CALM1 | c.400_402delinsCTT (p.Asp134Leu) c.292_294delinsCTT (p.Asp98Leu) c.403_405delinsCTT (p.Asp135Leu) c.272_274delinsCTT (n.272_274delinsCTT) c.*41_*43delinsCTT (n.*41_*43delinsCTT) n.2530_2532delinsCTT n.452_454delinsCTT n.326_328delinsCTT c.202_204delinsCTT (p.Asp68Leu) | |
14 | g.90404493_90404495delinsTAG | CA2579771209 | CALM1 | c.400_402delinsTAG (p.Asp134Ter) c.292_294delinsTAG (p.Asp98Ter) c.403_405delinsTAG (p.Asp135Ter) c.272_274delinsTAG (n.272_274delinsTAG) c.*41_*43delinsTAG (n.*41_*43delinsTAG) n.2530_2532delinsTAG n.452_454delinsTAG n.326_328delinsTAG c.202_204delinsTAG (p.Asp68Ter) | |
14 | g.90404493_90404495delinsTAT | CA2579773519 | CALM1 | c.400_402delinsTAT (p.Asp134Tyr) c.292_294delinsTAT (p.Asp98Tyr) c.403_405delinsTAT (p.Asp135Tyr) c.272_274delinsTAT (n.272_274delinsTAT) c.*41_*43delinsTAT (n.*41_*43delinsTAT) n.2530_2532delinsTAT n.452_454delinsTAT n.326_328delinsTAT c.202_204delinsTAT (p.Asp68Tyr) | |
14 | g.90404493_90404495delinsTCG | CA2579773399 | CALM1 | c.400_402delinsTCG (p.Asp134Ser) c.292_294delinsTCG (p.Asp98Ser) c.403_405delinsTCG (p.Asp135Ser) c.272_274delinsTCG (n.272_274delinsTCG) c.*41_*43delinsTCG (n.*41_*43delinsTCG) n.2530_2532delinsTCG n.452_454delinsTCG n.326_328delinsTCG c.202_204delinsTCG (p.Asp68Ser) | |
14 | g.90404493_90404495delinsTCT | CA2579771830 | CALM1 | c.400_402delinsTCT (p.Asp134Ser) c.292_294delinsTCT (p.Asp98Ser) c.403_405delinsTCT (p.Asp135Ser) c.272_274delinsTCT (n.272_274delinsTCT) c.*41_*43delinsTCT (n.*41_*43delinsTCT) n.2530_2532delinsTCT n.452_454delinsTCT n.326_328delinsTCT c.202_204delinsTCT (p.Asp68Ser) | |
14 | g.90404493_90404495delinsTGT | CA2579769854 | CALM1 | c.400_402delinsTGT (p.Asp134Cys) c.292_294delinsTGT (p.Asp98Cys) c.403_405delinsTGT (p.Asp135Cys) c.272_274delinsTGT (n.272_274delinsTGT) c.*41_*43delinsTGT (n.*41_*43delinsTGT) n.2530_2532delinsTGT n.452_454delinsTGT n.326_328delinsTGT c.202_204delinsTGT (p.Asp68Cys) | |
14 | g.90404493_90404495delinsTTT | CA2579770771 | CALM1 | c.400_402delinsTTT (p.Asp134Phe) c.292_294delinsTTT (p.Asp98Phe) c.403_405delinsTTT (p.Asp135Phe) c.272_274delinsTTT (n.272_274delinsTTT) c.*41_*43delinsTTT (n.*41_*43delinsTTT) n.2530_2532delinsTTT n.452_454delinsTTT n.326_328delinsTTT c.202_204delinsTTT (p.Asp68Phe) | |
14 | g.90404494A>C | CA390690369 | CALM1 | c.401A>C (p.Asp134Ala) c.293A>C (p.Asp98Ala) c.404A>C (p.Asp135Ala) c.273A>C (n.273A>C) c.*42A>C (n.*42A>C) n.2531A>C n.453A>C n.327A>C c.203A>C (p.Asp68Ala) | |
14 | g.90404494A>G | CA390690370 | CALM1 | c.401A>G (p.Asp134Gly) c.293A>G (p.Asp98Gly) c.404A>G (p.Asp135Gly) c.273A>G (n.273A>G) c.*42A>G (n.*42A>G) n.2531A>G n.453A>G n.327A>G c.203A>G (p.Asp68Gly) | |
14 | g.90404494A>T | CA390690371 | CALM1 | c.401A>T (p.Asp134Val) c.293A>T (p.Asp98Val) c.404A>T (p.Asp135Val) c.273A>T (n.273A>T) c.*42A>T (n.*42A>T) n.2531A>T n.453A>T n.327A>T c.203A>T (p.Asp68Val) | |
14 | g.90404494_90404495delinsCG | CA2579770861 | CALM1 | c.401_402delinsCG (p.Asp134Ala) c.293_294delinsCG (p.Asp98Ala) c.404_405delinsCG (p.Asp135Ala) c.273_274delinsCG (n.273_274delinsCG) c.*42_*43delinsCG (n.*42_*43delinsCG) n.2531_2532delinsCG n.453_454delinsCG n.327_328delinsCG c.203_204delinsCG (p.Asp68Ala) | |
14 | g.90404494_90404495delinsCT | CA2579772436 | CALM1 | c.401_402delinsCT (p.Asp134Ala) c.293_294delinsCT (p.Asp98Ala) c.404_405delinsCT (p.Asp135Ala) c.273_274delinsCT (n.273_274delinsCT) c.*42_*43delinsCT (n.*42_*43delinsCT) n.2531_2532delinsCT n.453_454delinsCT n.327_328delinsCT c.203_204delinsCT (p.Asp68Ala) | |
14 | g.90404494_90404495delinsGA | CA2579769880 | CALM1 | c.401_402delinsGA (p.Asp134Gly) c.293_294delinsGA (p.Asp98Gly) c.404_405delinsGA (p.Asp135Gly) c.273_274delinsGA (n.273_274delinsGA) c.*42_*43delinsGA (n.*42_*43delinsGA) n.2531_2532delinsGA n.453_454delinsGA n.327_328delinsGA c.203_204delinsGA (p.Asp68Gly) | |
14 | g.90404494_90404495delinsGG | CA2579773827 | CALM1 | c.401_402delinsGG (p.Asp134Gly) c.293_294delinsGG (p.Asp98Gly) c.404_405delinsGG (p.Asp135Gly) c.273_274delinsGG (n.273_274delinsGG) c.*42_*43delinsGG (n.*42_*43delinsGG) n.2531_2532delinsGG n.453_454delinsGG n.327_328delinsGG c.203_204delinsGG (p.Asp68Gly) | |
14 | g.90404494_90404495delinsGT | CA2579769871 | CALM1 | c.401_402delinsGT (p.Asp134Gly) c.293_294delinsGT (p.Asp98Gly) c.404_405delinsGT (p.Asp135Gly) c.273_274delinsGT (n.273_274delinsGT) c.*42_*43delinsGT (n.*42_*43delinsGT) n.2531_2532delinsGT n.453_454delinsGT n.327_328delinsGT c.203_204delinsGT (p.Asp68Gly) | |
14 | g.90404494_90404495delinsTG | CA2579772918 | CALM1 | c.401_402delinsTG (p.Asp134Val) c.293_294delinsTG (p.Asp98Val) c.404_405delinsTG (p.Asp135Val) c.273_274delinsTG (n.273_274delinsTG) c.*42_*43delinsTG (n.*42_*43delinsTG) n.2531_2532delinsTG n.453_454delinsTG n.327_328delinsTG c.203_204delinsTG (p.Asp68Val) | |
14 | g.90404494_90404495delinsTT | CA2579770655 | CALM1 | c.401_402delinsTT (p.Asp134Val) c.293_294delinsTT (p.Asp98Val) c.404_405delinsTT (p.Asp135Val) c.273_274delinsTT (n.273_274delinsTT) c.*42_*43delinsTT (n.*42_*43delinsTT) n.2531_2532delinsTT n.453_454delinsTT n.327_328delinsTT c.203_204delinsTT (p.Asp68Val) | |
14 | g.90404495C>A | CA390690372 | CALM1 | c.402C>A (p.Asp134Glu) c.294C>A (p.Asp98Glu) c.405C>A (p.Asp135Glu) c.274C>A (n.274C>A) c.*43C>A (n.*43C>A) n.2532C>A n.454C>A n.328C>A c.204C>A (p.Asp68Glu) | |
14 | g.90404495C= | CA2154484184 | CALM1 | c.402C= (p.Asp134=) c.294C= (p.Asp98=) c.405C= (p.Asp135=) c.274C= (n.274C=) c.*43C= (n.*43C=) n.2532C= n.454C= n.328C= c.204C= (p.Asp68=) | |
14 | g.90404495C>G | CA390690373 | CALM1 | c.402C>G (p.Asp134Glu) c.294C>G (p.Asp98Glu) c.405C>G (p.Asp135Glu) c.274C>G (n.274C>G) c.*43C>G (n.*43C>G) n.2532C>G n.454C>G n.328C>G c.204C>G (p.Asp68Glu) | ClinVar |
14 | g.90404495C>T | CA7305802 | CALM1 | c.402C>T (p.Asp134=) c.294C>T (p.Asp98=) c.405C>T (p.Asp135=) c.274C>T (n.274C>T) c.*43C>T (n.*43C>T) n.2532C>T n.454C>T n.328C>T c.204C>T (p.Asp68=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
14 | g.90404496G>A | CA390690376 | CALM1 | c.403G>A (p.Gly135Arg) c.295G>A (p.Gly99Arg) c.406G>A (p.Gly136Arg) c.275G>A (n.275G>A) c.*44G>A (n.*44G>A) n.2533G>A n.455G>A n.329G>A c.295G>A c.205G>A (p.Gly69Arg) | dbSNP |
14 | g.90404496G>C | CA390690375 | CALM1 | c.403G>C (p.Gly135Arg) c.295G>C (p.Gly99Arg) c.406G>C (p.Gly136Arg) c.275G>C (n.275G>C) c.*44G>C (n.*44G>C) n.2533G>C n.455G>C n.329G>C c.295G>C c.205G>C (p.Gly69Arg) | |
14 | g.90404496G= | CA2154484191 | CALM1 | c.403G= (p.Gly135=) c.295G= (p.Gly99=) c.406G= (p.Gly136=) c.275G= (n.275G=) c.*44G= (n.*44G=) n.2533G= n.455G= n.329G= c.295G= c.205G= (p.Gly69=) | |
14 | g.90404496G>T | CA390690374 | CALM1 | c.403G>T (p.Gly135Ter) c.295G>T (p.Gly99Ter) c.406G>T (p.Gly136Ter) c.275G>T (n.275G>T) c.*44G>T (n.*44G>T) n.2533G>T n.455G>T n.329G>T c.295G>T c.205G>T (p.Gly69Ter) | |
14 | g.90404496_90404497delinsAA | CA2579771411 | CALM1 | c.403_404delinsAA (p.Gly135Lys) c.295_296delinsAA (p.Gly99Lys) c.406_407delinsAA (p.Gly136Lys) c.275_276delinsAA (n.275_276delinsAA) c.*44_*45delinsAA (n.*44_*45delinsAA) n.2533_2534delinsAA n.455_456delinsAA n.329_330delinsAA c.205_206delinsAA (p.Gly69Lys) | |
14 | g.90404496_90404497delinsAC | CA2579773732 | CALM1 | c.403_404delinsAC (p.Gly135Thr) c.295_296delinsAC (p.Gly99Thr) c.406_407delinsAC (p.Gly136Thr) c.275_276delinsAC (n.275_276delinsAC) c.*44_*45delinsAC (n.*44_*45delinsAC) n.2533_2534delinsAC n.455_456delinsAC n.329_330delinsAC c.205_206delinsAC (p.Gly69Thr) | |
14 | g.90404496_90404497delinsAT | CA2579773406 | CALM1 | c.403_404delinsAT (p.Gly135Ile) c.295_296delinsAT (p.Gly99Ile) c.406_407delinsAT (p.Gly136Ile) c.275_276delinsAT (n.275_276delinsAT) c.*44_*45delinsAT (n.*44_*45delinsAT) n.2533_2534delinsAT n.455_456delinsAT n.329_330delinsAT c.205_206delinsAT (p.Gly69Ile) | |
14 | g.90404496_90404497delinsCA | CA2579771322 | CALM1 | c.403_404delinsCA (p.Gly135Gln) c.295_296delinsCA (p.Gly99Gln) c.406_407delinsCA (p.Gly136Gln) c.275_276delinsCA (n.275_276delinsCA) c.*44_*45delinsCA (n.*44_*45delinsCA) n.2533_2534delinsCA n.455_456delinsCA n.329_330delinsCA c.205_206delinsCA (p.Gly69Gln) | |
14 | g.90404496_90404497delinsCC | CA2579771847 | CALM1 | c.403_404delinsCC (p.Gly135Pro) c.295_296delinsCC (p.Gly99Pro) c.406_407delinsCC (p.Gly136Pro) c.275_276delinsCC (n.275_276delinsCC) c.*44_*45delinsCC (n.*44_*45delinsCC) n.2533_2534delinsCC n.455_456delinsCC n.329_330delinsCC c.205_206delinsCC (p.Gly69Pro) | |
14 | g.90404496_90404497delinsCT | CA2579770314 | CALM1 | c.403_404delinsCT (p.Gly135Leu) c.295_296delinsCT (p.Gly99Leu) c.406_407delinsCT (p.Gly136Leu) c.275_276delinsCT (n.275_276delinsCT) c.*44_*45delinsCT (n.*44_*45delinsCT) n.2533_2534delinsCT n.455_456delinsCT n.329_330delinsCT c.205_206delinsCT (p.Gly69Leu) | |
14 | g.90404496_90404497delinsTA | CA2579772852 | CALM1 | c.403_404delinsTA (p.Gly135Ter) c.295_296delinsTA (p.Gly99Ter) c.406_407delinsTA (p.Gly136Ter) c.275_276delinsTA (n.275_276delinsTA) c.*44_*45delinsTA (n.*44_*45delinsTA) n.2533_2534delinsTA n.455_456delinsTA n.329_330delinsTA c.205_206delinsTA (p.Gly69Ter) | |
14 | g.90404496_90404497delinsTC | CA2579771665 | CALM1 | c.403_404delinsTC (p.Gly135Ser) c.295_296delinsTC (p.Gly99Ser) c.406_407delinsTC (p.Gly136Ser) c.275_276delinsTC (n.275_276delinsTC) c.*44_*45delinsTC (n.*44_*45delinsTC) n.2533_2534delinsTC n.455_456delinsTC n.329_330delinsTC c.205_206delinsTC (p.Gly69Ser) | |
14 | g.90404496_90404497delinsTT | CA2579770446 | CALM1 | c.403_404delinsTT (p.Gly135Leu) c.295_296delinsTT (p.Gly99Leu) c.406_407delinsTT (p.Gly136Leu) c.275_276delinsTT (n.275_276delinsTT) c.*44_*45delinsTT (n.*44_*45delinsTT) n.2533_2534delinsTT n.455_456delinsTT n.329_330delinsTT c.205_206delinsTT (p.Gly69Leu) | |
14 | g.90404496_90404498delinsAAG | CA2579773948 | CALM1 | c.403_405delinsAAG (p.Gly135Lys) c.295_297delinsAAG (p.Gly99Lys) c.406_408delinsAAG (p.Gly136Lys) c.275_277delinsAAG (n.275_277delinsAAG) c.*44_*46delinsAAG (n.*44_*46delinsAAG) n.2533_2535delinsAAG n.455_457delinsAAG n.329_331delinsAAG c.205_207delinsAAG (p.Gly69Lys) | |
14 | g.90404496_90404498delinsAAT | CA2579772312 | CALM1 | c.403_405delinsAAT (p.Gly135Asn) c.295_297delinsAAT (p.Gly99Asn) c.406_408delinsAAT (p.Gly136Asn) c.275_277delinsAAT (n.275_277delinsAAT) c.*44_*46delinsAAT (n.*44_*46delinsAAT) n.2533_2535delinsAAT n.455_457delinsAAT n.329_331delinsAAT c.205_207delinsAAT (p.Gly69Asn) | |
14 | g.90404496_90404498delinsAGC | CA2579773660 | CALM1 | c.403_405delinsAGC (p.Gly135Ser) c.295_297delinsAGC (p.Gly99Ser) c.406_408delinsAGC (p.Gly136Ser) c.275_277delinsAGC (n.275_277delinsAGC) c.*44_*46delinsAGC (n.*44_*46delinsAGC) n.2533_2535delinsAGC n.455_457delinsAGC n.329_331delinsAGC c.205_207delinsAGC (p.Gly69Ser) | |
14 | g.90404496_90404498delinsAGG | CA2579770240 | CALM1 | c.403_405delinsAGG (p.Gly135Arg) c.295_297delinsAGG (p.Gly99Arg) c.406_408delinsAGG (p.Gly136Arg) c.275_277delinsAGG (n.275_277delinsAGG) c.*44_*46delinsAGG (n.*44_*46delinsAGG) n.2533_2535delinsAGG n.455_457delinsAGG n.329_331delinsAGG c.205_207delinsAGG (p.Gly69Arg) | |
14 | g.90404496_90404498delinsAGT | CA2579771926 | CALM1 | c.403_405delinsAGT (p.Gly135Ser) c.295_297delinsAGT (p.Gly99Ser) c.406_408delinsAGT (p.Gly136Ser) c.275_277delinsAGT (n.275_277delinsAGT) c.*44_*46delinsAGT (n.*44_*46delinsAGT) n.2533_2535delinsAGT n.455_457delinsAGT n.329_331delinsAGT c.205_207delinsAGT (p.Gly69Ser) | |
14 | g.90404496_90404498delinsATG | CA2579770301 | CALM1 | c.403_405delinsATG (p.Gly135Met) c.295_297delinsATG (p.Gly99Met) c.406_408delinsATG (p.Gly136Met) c.275_277delinsATG (n.275_277delinsATG) c.*44_*46delinsATG (n.*44_*46delinsATG) n.2533_2535delinsATG n.455_457delinsATG n.329_331delinsATG c.205_207delinsATG (p.Gly69Met) | |
14 | g.90404496_90404498delinsATT | CA2579772771 | CALM1 | c.403_405delinsATT (p.Gly135Ile) c.295_297delinsATT (p.Gly99Ile) c.406_408delinsATT (p.Gly136Ile) c.275_277delinsATT (n.275_277delinsATT) c.*44_*46delinsATT (n.*44_*46delinsATT) n.2533_2535delinsATT n.455_457delinsATT n.329_331delinsATT c.205_207delinsATT (p.Gly69Ile) | |
14 | g.90404496_90404498delinsCAG | CA2579773934 | CALM1 | c.403_405delinsCAG (p.Gly135Gln) c.295_297delinsCAG (p.Gly99Gln) c.406_408delinsCAG (p.Gly136Gln) c.275_277delinsCAG (n.275_277delinsCAG) c.*44_*46delinsCAG (n.*44_*46delinsCAG) n.2533_2535delinsCAG n.455_457delinsCAG n.329_331delinsCAG c.205_207delinsCAG (p.Gly69Gln) | |
14 | g.90404496_90404498delinsCCG | CA2579772692 | CALM1 | c.403_405delinsCCG (p.Gly135Pro) c.295_297delinsCCG (p.Gly99Pro) c.406_408delinsCCG (p.Gly136Pro) c.275_277delinsCCG (n.275_277delinsCCG) c.*44_*46delinsCCG (n.*44_*46delinsCCG) n.2533_2535delinsCCG n.455_457delinsCCG n.329_331delinsCCG c.205_207delinsCCG (p.Gly69Pro) | |
14 | g.90404496_90404498delinsCGG | CA2579770622 | CALM1 | c.403_405delinsCGG (p.Gly135Arg) c.295_297delinsCGG (p.Gly99Arg) c.406_408delinsCGG (p.Gly136Arg) c.275_277delinsCGG (n.275_277delinsCGG) c.*44_*46delinsCGG (n.*44_*46delinsCGG) n.2533_2535delinsCGG n.455_457delinsCGG n.329_331delinsCGG c.205_207delinsCGG (p.Gly69Arg) | |
14 | g.90404496_90404498delinsCGT | CA2579770222 | CALM1 | c.403_405delinsCGT (p.Gly135Arg) c.295_297delinsCGT (p.Gly99Arg) c.406_408delinsCGT (p.Gly136Arg) c.275_277delinsCGT (n.275_277delinsCGT) c.*44_*46delinsCGT (n.*44_*46delinsCGT) n.2533_2535delinsCGT n.455_457delinsCGT n.329_331delinsCGT c.205_207delinsCGT (p.Gly69Arg) | |
14 | g.90404496_90404498delinsCTT | CA2579772654 | CALM1 | c.403_405delinsCTT (p.Gly135Leu) c.295_297delinsCTT (p.Gly99Leu) c.406_408delinsCTT (p.Gly136Leu) c.275_277delinsCTT (n.275_277delinsCTT) c.*44_*46delinsCTT (n.*44_*46delinsCTT) n.2533_2535delinsCTT n.455_457delinsCTT n.329_331delinsCTT c.205_207delinsCTT (p.Gly69Leu) | |
14 | g.90404496_90404498delinsTCT | CA2579771571 | CALM1 | c.403_405delinsTCT (p.Gly135Ser) c.295_297delinsTCT (p.Gly99Ser) c.406_408delinsTCT (p.Gly136Ser) c.275_277delinsTCT (n.275_277delinsTCT) c.*44_*46delinsTCT (n.*44_*46delinsTCT) n.2533_2535delinsTCT n.455_457delinsTCT n.329_331delinsTCT c.205_207delinsTCT (p.Gly69Ser) | |
14 | g.90404496_90404498delinsTGG | CA2579770189 | CALM1 | c.403_405delinsTGG (p.Gly135Trp) c.295_297delinsTGG (p.Gly99Trp) c.406_408delinsTGG (p.Gly136Trp) c.275_277delinsTGG (n.275_277delinsTGG) c.*44_*46delinsTGG (n.*44_*46delinsTGG) n.2533_2535delinsTGG n.455_457delinsTGG n.329_331delinsTGG c.205_207delinsTGG (p.Gly69Trp) | |
14 | g.90404496_90404498delinsTGT | CA2579770920 | CALM1 | c.403_405delinsTGT (p.Gly135Cys) c.295_297delinsTGT (p.Gly99Cys) c.406_408delinsTGT (p.Gly136Cys) c.275_277delinsTGT (n.275_277delinsTGT) c.*44_*46delinsTGT (n.*44_*46delinsTGT) n.2533_2535delinsTGT n.455_457delinsTGT n.329_331delinsTGT c.205_207delinsTGT (p.Gly69Cys) | |
14 | g.90404496_90404498delinsTTG | CA2579771142 | CALM1 | c.403_405delinsTTG (p.Gly135Leu) c.295_297delinsTTG (p.Gly99Leu) c.406_408delinsTTG (p.Gly136Leu) c.275_277delinsTTG (n.275_277delinsTTG) c.*44_*46delinsTTG (n.*44_*46delinsTTG) n.2533_2535delinsTTG n.455_457delinsTTG n.329_331delinsTTG c.205_207delinsTTG (p.Gly69Leu) | |
14 | g.90404496_90404498delinsTTT | CA2579772058 | CALM1 | c.403_405delinsTTT (p.Gly135Phe) c.295_297delinsTTT (p.Gly99Phe) c.406_408delinsTTT (p.Gly136Phe) c.275_277delinsTTT (n.275_277delinsTTT) c.*44_*46delinsTTT (n.*44_*46delinsTTT) n.2533_2535delinsTTT n.455_457delinsTTT n.329_331delinsTTT c.205_207delinsTTT (p.Gly69Phe) | |
14 | g.90404497G>A | CA390690377 | CALM1 | c.404G>A (p.Gly135Glu) c.296G>A (p.Gly99Glu) c.407G>A (p.Gly136Glu) c.276G>A (n.276G>A) c.*45G>A (n.*45G>A) n.2534G>A n.456G>A n.330G>A c.206G>A (p.Gly69Glu) | |
14 | g.90404497G>C | CA390690378 | CALM1 | c.404G>C (p.Gly135Ala) c.296G>C (p.Gly99Ala) c.407G>C (p.Gly136Ala) c.276G>C (n.276G>C) c.*45G>C (n.*45G>C) n.2534G>C n.456G>C n.330G>C c.206G>C (p.Gly69Ala) | |
14 | g.90404497G>T | CA390690379 | CALM1 | c.404G>T (p.Gly135Val) c.296G>T (p.Gly99Val) c.407G>T (p.Gly136Val) c.276G>T (n.276G>T) c.*45G>T (n.*45G>T) n.2534G>T n.456G>T n.330G>T c.206G>T (p.Gly69Val) | |
14 | g.90404497_90404498delinsAC | CA2579773888 | CALM1 | c.404_405delinsAC (p.Gly135Asp) c.296_297delinsAC (p.Gly99Asp) c.407_408delinsAC (p.Gly136Asp) c.276_277delinsAC (n.276_277delinsAC) c.*45_*46delinsAC (n.*45_*46delinsAC) n.2534_2535delinsAC n.456_457delinsAC n.330_331delinsAC c.206_207delinsAC (p.Gly69Asp) | |
14 | g.90404497_90404498delinsAG | CA2579772387 | CALM1 | c.404_405delinsAG (p.Gly135Glu) c.296_297delinsAG (p.Gly99Glu) c.407_408delinsAG (p.Gly136Glu) c.276_277delinsAG (n.276_277delinsAG) c.*45_*46delinsAG (n.*45_*46delinsAG) n.2534_2535delinsAG n.456_457delinsAG n.330_331delinsAG c.206_207delinsAG (p.Gly69Glu) | |
14 | g.90404497_90404498delinsAT | CA2579771863 | CALM1 | c.404_405delinsAT (p.Gly135Asp) c.296_297delinsAT (p.Gly99Asp) c.407_408delinsAT (p.Gly136Asp) c.276_277delinsAT (n.276_277delinsAT) c.*45_*46delinsAT (n.*45_*46delinsAT) n.2534_2535delinsAT n.456_457delinsAT n.330_331delinsAT c.206_207delinsAT (p.Gly69Asp) | |
14 | g.90404497_90404498delinsCG | CA2579773085 | CALM1 | c.404_405delinsCG (p.Gly135Ala) c.296_297delinsCG (p.Gly99Ala) c.407_408delinsCG (p.Gly136Ala) c.276_277delinsCG (n.276_277delinsCG) c.*45_*46delinsCG (n.*45_*46delinsCG) n.2534_2535delinsCG n.456_457delinsCG n.330_331delinsCG c.206_207delinsCG (p.Gly69Ala) | |
14 | g.90404497_90404498delinsCT | CA2579770196 | CALM1 | c.404_405delinsCT (p.Gly135Ala) c.296_297delinsCT (p.Gly99Ala) c.407_408delinsCT (p.Gly136Ala) c.276_277delinsCT (n.276_277delinsCT) c.*45_*46delinsCT (n.*45_*46delinsCT) n.2534_2535delinsCT n.456_457delinsCT n.330_331delinsCT c.206_207delinsCT (p.Gly69Ala) | |
14 | g.90404497_90404498delinsTC | CA2579772704 | CALM1 | c.404_405delinsTC (p.Gly135Val) c.296_297delinsTC (p.Gly99Val) c.407_408delinsTC (p.Gly136Val) c.276_277delinsTC (n.276_277delinsTC) c.*45_*46delinsTC (n.*45_*46delinsTC) n.2534_2535delinsTC n.456_457delinsTC n.330_331delinsTC c.206_207delinsTC (p.Gly69Val) | |
14 | g.90404497_90404498delinsTG | CA2579773061 | CALM1 | c.404_405delinsTG (p.Gly135Val) c.296_297delinsTG (p.Gly99Val) c.407_408delinsTG (p.Gly136Val) c.276_277delinsTG (n.276_277delinsTG) c.*45_*46delinsTG (n.*45_*46delinsTG) n.2534_2535delinsTG n.456_457delinsTG n.330_331delinsTG c.206_207delinsTG (p.Gly69Val) | |
14 | g.90404497_90404498delinsTT | CA2579772331 | CALM1 | c.404_405delinsTT (p.Gly135Val) c.296_297delinsTT (p.Gly99Val) c.407_408delinsTT (p.Gly136Val) c.276_277delinsTT (n.276_277delinsTT) c.*45_*46delinsTT (n.*45_*46delinsTT) n.2534_2535delinsTT n.456_457delinsTT n.330_331delinsTT c.206_207delinsTT (p.Gly69Val) | |
14 | g.90404498A= | CA2154484194 | CALM1 | c.405A= (p.Gly135=) c.297A= (p.Gly99=) c.408A= (p.Gly136=) c.277A= (n.277A=) c.*46A= (n.*46A=) n.2535A= n.457A= n.331A= c.207A= (p.Gly69=) | |
14 | g.90404498A>C | CA264948499 | CALM1 | c.405A>C (p.Gly135=) c.297A>C (p.Gly99=) c.408A>C (p.Gly136=) c.277A>C (n.277A>C) c.*46A>C (n.*46A>C) n.2535A>C n.457A>C n.331A>C c.207A>C (p.Gly69=) | dbSNP gnomAD v4 |
14 | g.90404498A>G | CA7305803 | CALM1 | c.405A>G (p.Gly135=) c.297A>G (p.Gly99=) c.408A>G (p.Gly136=) c.277A>G (n.277A>G) c.*46A>G (n.*46A>G) n.2535A>G n.457A>G n.331A>G c.207A>G (p.Gly69=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404498A>T | CA487760435 | CALM1 | c.405A>T (p.Gly135=) c.297A>T (p.Gly99=) c.408A>T (p.Gly136=) c.277A>T (n.277A>T) c.*46A>T (n.*46A>T) n.2535A>T n.457A>T n.331A>T c.207A>T (p.Gly69=) | |
14 | g.90404499C>A | CA390690380 | CALM1 | c.406C>A (p.Gln136Lys) c.298C>A (p.Gln100Lys) c.409C>A (p.Gln137Lys) c.278C>A (n.278C>A) c.*47C>A (n.*47C>A) n.2536C>A n.458C>A n.332C>A c.208C>A (p.Gln70Lys) | |
14 | g.90404499C>G | CA390690381 | CALM1 | c.406C>G (p.Gln136Glu) c.298C>G (p.Gln100Glu) c.409C>G (p.Gln137Glu) c.278C>G (n.278C>G) c.*47C>G (n.*47C>G) n.2536C>G n.458C>G n.332C>G c.208C>G (p.Gln70Glu) | |
14 | g.90404499C>T | CA390690382 | CALM1 | c.406C>T (p.Gln136Ter) c.298C>T (p.Gln100Ter) c.409C>T (p.Gln137Ter) c.278C>T (n.278C>T) c.*47C>T (n.*47C>T) n.2536C>T n.458C>T n.332C>T c.208C>T (p.Gln70Ter) | |
14 | g.90404499_90404500delinsAC | CA2579771198 | CALM1 | c.406_407delinsAC (p.Gln136Thr) c.298_299delinsAC (p.Gln100Thr) c.409_410delinsAC (p.Gln137Thr) c.278_279delinsAC (n.278_279delinsAC) c.*47_*48delinsAC (n.*47_*48delinsAC) n.2536_2537delinsAC n.458_459delinsAC n.332_333delinsAC c.208_209delinsAC (p.Gln70Thr) | |
14 | g.90404499_90404500delinsAG | CA2579773676 | CALM1 | c.406_407delinsAG (p.Gln136Arg) c.298_299delinsAG (p.Gln100Arg) c.409_410delinsAG (p.Gln137Arg) c.278_279delinsAG (n.278_279delinsAG) c.*47_*48delinsAG (n.*47_*48delinsAG) n.2536_2537delinsAG n.458_459delinsAG n.332_333delinsAG c.208_209delinsAG (p.Gln70Arg) | |
14 | g.90404499_90404500delinsAT | CA2579772105 | CALM1 | c.406_407delinsAT (p.Gln136Ile) c.298_299delinsAT (p.Gln100Ile) c.409_410delinsAT (p.Gln137Ile) c.278_279delinsAT (n.278_279delinsAT) c.*47_*48delinsAT (n.*47_*48delinsAT) n.2536_2537delinsAT n.458_459delinsAT n.332_333delinsAT c.208_209delinsAT (p.Gln70Ile) | |
14 | g.90404499_90404500delinsGC | CA2579773088 | CALM1 | c.406_407delinsGC (p.Gln136Ala) c.298_299delinsGC (p.Gln100Ala) c.409_410delinsGC (p.Gln137Ala) c.278_279delinsGC (n.278_279delinsGC) c.*47_*48delinsGC (n.*47_*48delinsGC) n.2536_2537delinsGC n.458_459delinsGC n.332_333delinsGC c.208_209delinsGC (p.Gln70Ala) | |
14 | g.90404499_90404500delinsGG | CA2579772426 | CALM1 | c.406_407delinsGG (p.Gln136Gly) c.298_299delinsGG (p.Gln100Gly) c.409_410delinsGG (p.Gln137Gly) c.278_279delinsGG (n.278_279delinsGG) c.*47_*48delinsGG (n.*47_*48delinsGG) n.2536_2537delinsGG n.458_459delinsGG n.332_333delinsGG c.208_209delinsGG (p.Gln70Gly) | |
14 | g.90404499_90404500delinsGT | CA2579772278 | CALM1 | c.406_407delinsGT (p.Gln136Val) c.298_299delinsGT (p.Gln100Val) c.409_410delinsGT (p.Gln137Val) c.278_279delinsGT (n.278_279delinsGT) c.*47_*48delinsGT (n.*47_*48delinsGT) n.2536_2537delinsGT n.458_459delinsGT n.332_333delinsGT c.208_209delinsGT (p.Gln70Val) | |
14 | g.90404499_90404500delinsTC | CA2579771597 | CALM1 | c.406_407delinsTC (p.Gln136Ser) c.298_299delinsTC (p.Gln100Ser) c.409_410delinsTC (p.Gln137Ser) c.278_279delinsTC (n.278_279delinsTC) c.*47_*48delinsTC (n.*47_*48delinsTC) n.2536_2537delinsTC n.458_459delinsTC n.332_333delinsTC c.208_209delinsTC (p.Gln70Ser) | |
14 | g.90404499_90404500delinsTG | CA2579769878 | CALM1 | c.406_407delinsTG (p.Gln136Ter) c.298_299delinsTG (p.Gln100Ter) c.409_410delinsTG (p.Gln137Ter) c.278_279delinsTG (n.278_279delinsTG) c.*47_*48delinsTG (n.*47_*48delinsTG) n.2536_2537delinsTG n.458_459delinsTG n.332_333delinsTG c.208_209delinsTG (p.Gln70Ter) | |
14 | g.90404499_90404500delinsTT | CA2579770040 | CALM1 | c.406_407delinsTT (p.Gln136Leu) c.298_299delinsTT (p.Gln100Leu) c.409_410delinsTT (p.Gln137Leu) c.278_279delinsTT (n.278_279delinsTT) c.*47_*48delinsTT (n.*47_*48delinsTT) n.2536_2537delinsTT n.458_459delinsTT n.332_333delinsTT c.208_209delinsTT (p.Gln70Leu) | |
14 | g.90404499_90404501delinsAAG | CA2579771726 | CALM1 | c.406_408delinsAAG (p.Gln136Lys) c.298_300delinsAAG (p.Gln100Lys) c.409_411delinsAAG (p.Gln137Lys) c.278_280delinsAAG (n.278_280delinsAAG) c.*47_*49delinsAAG (n.*47_*49delinsAAG) n.2536_2538delinsAAG n.458_460delinsAAG n.332_334delinsAAG c.208_210delinsAAG (p.Gln70Lys) | |
14 | g.90404499_90404501delinsAAT | CA2579771573 | CALM1 | c.406_408delinsAAT (p.Gln136Asn) c.298_300delinsAAT (p.Gln100Asn) c.409_411delinsAAT (p.Gln137Asn) c.278_280delinsAAT (n.278_280delinsAAT) c.*47_*49delinsAAT (n.*47_*49delinsAAT) n.2536_2538delinsAAT n.458_460delinsAAT n.332_334delinsAAT c.208_210delinsAAT (p.Gln70Asn) | |
14 | g.90404499_90404501delinsACT | CA2579773010 | CALM1 | c.406_408delinsACT (p.Gln136Thr) c.298_300delinsACT (p.Gln100Thr) c.409_411delinsACT (p.Gln137Thr) c.278_280delinsACT (n.278_280delinsACT) c.*47_*49delinsACT (n.*47_*49delinsACT) n.2536_2538delinsACT n.458_460delinsACT n.332_334delinsACT c.208_210delinsACT (p.Gln70Thr) | |
14 | g.90404499_90404501delinsAGG | CA2579772416 | CALM1 | c.406_408delinsAGG (p.Gln136Arg) c.298_300delinsAGG (p.Gln100Arg) c.409_411delinsAGG (p.Gln137Arg) c.278_280delinsAGG (n.278_280delinsAGG) c.*47_*49delinsAGG (n.*47_*49delinsAGG) n.2536_2538delinsAGG n.458_460delinsAGG n.332_334delinsAGG c.208_210delinsAGG (p.Gln70Arg) | |
14 | g.90404499_90404501delinsAGT | CA2579772497 | CALM1 | c.406_408delinsAGT (p.Gln136Ser) c.298_300delinsAGT (p.Gln100Ser) c.409_411delinsAGT (p.Gln137Ser) c.278_280delinsAGT (n.278_280delinsAGT) c.*47_*49delinsAGT (n.*47_*49delinsAGT) n.2536_2538delinsAGT n.458_460delinsAGT n.332_334delinsAGT c.208_210delinsAGT (p.Gln70Ser) | |
14 | g.90404499_90404501delinsATG | CA2579774298 | CALM1 | c.406_408delinsATG (p.Gln136Met) c.298_300delinsATG (p.Gln100Met) c.409_411delinsATG (p.Gln137Met) c.278_280delinsATG (n.278_280delinsATG) c.*47_*49delinsATG (n.*47_*49delinsATG) n.2536_2538delinsATG n.458_460delinsATG n.332_334delinsATG c.208_210delinsATG (p.Gln70Met) | |
14 | g.90404499_90404501delinsATT | CA2579773170 | CALM1 | c.406_408delinsATT (p.Gln136Ile) c.298_300delinsATT (p.Gln100Ile) c.409_411delinsATT (p.Gln137Ile) c.278_280delinsATT (n.278_280delinsATT) c.*47_*49delinsATT (n.*47_*49delinsATT) n.2536_2538delinsATT n.458_460delinsATT n.332_334delinsATT c.208_210delinsATT (p.Gln70Ile) | |
14 | g.90404499_90404501delinsGAC | CA2579770511 | CALM1 | c.406_408delinsGAC (p.Gln136Asp) c.298_300delinsGAC (p.Gln100Asp) c.409_411delinsGAC (p.Gln137Asp) c.278_280delinsGAC (n.278_280delinsGAC) c.*47_*49delinsGAC (n.*47_*49delinsGAC) n.2536_2538delinsGAC n.458_460delinsGAC n.332_334delinsGAC c.208_210delinsGAC (p.Gln70Asp) | |
14 | g.90404499_90404501delinsGAG | CA2579774215 | CALM1 | c.406_408delinsGAG (p.Gln136Glu) c.298_300delinsGAG (p.Gln100Glu) c.409_411delinsGAG (p.Gln137Glu) c.278_280delinsGAG (n.278_280delinsGAG) c.*47_*49delinsGAG (n.*47_*49delinsGAG) n.2536_2538delinsGAG n.458_460delinsGAG n.332_334delinsGAG c.208_210delinsGAG (p.Gln70Glu) | |
14 | g.90404499_90404501delinsGAT | CA2579771057 | CALM1 | c.406_408delinsGAT (p.Gln136Asp) c.298_300delinsGAT (p.Gln100Asp) c.409_411delinsGAT (p.Gln137Asp) c.278_280delinsGAT (n.278_280delinsGAT) c.*47_*49delinsGAT (n.*47_*49delinsGAT) n.2536_2538delinsGAT n.458_460delinsGAT n.332_334delinsGAT c.208_210delinsGAT (p.Gln70Asp) | |
14 | g.90404499_90404501delinsGCT | CA2579773161 | CALM1 | c.406_408delinsGCT (p.Gln136Ala) c.298_300delinsGCT (p.Gln100Ala) c.409_411delinsGCT (p.Gln137Ala) c.278_280delinsGCT (n.278_280delinsGCT) c.*47_*49delinsGCT (n.*47_*49delinsGCT) n.2536_2538delinsGCT n.458_460delinsGCT n.332_334delinsGCT c.208_210delinsGCT (p.Gln70Ala) | |
14 | g.90404499_90404501delinsGGG | CA2579772306 | CALM1 | c.406_408delinsGGG (p.Gln136Gly) c.298_300delinsGGG (p.Gln100Gly) c.409_411delinsGGG (p.Gln137Gly) c.278_280delinsGGG (n.278_280delinsGGG) c.*47_*49delinsGGG (n.*47_*49delinsGGG) n.2536_2538delinsGGG n.458_460delinsGGG n.332_334delinsGGG c.208_210delinsGGG (p.Gln70Gly) | |
14 | g.90404499_90404501delinsGGT | CA2579770367 | CALM1 | c.406_408delinsGGT (p.Gln136Gly) c.298_300delinsGGT (p.Gln100Gly) c.409_411delinsGGT (p.Gln137Gly) c.278_280delinsGGT (n.278_280delinsGGT) c.*47_*49delinsGGT (n.*47_*49delinsGGT) n.2536_2538delinsGGT n.458_460delinsGGT n.332_334delinsGGT c.208_210delinsGGT (p.Gln70Gly) | |
14 | g.90404499_90404501delinsGTC | CA2579770730 | CALM1 | c.406_408delinsGTC (p.Gln136Val) c.298_300delinsGTC (p.Gln100Val) c.409_411delinsGTC (p.Gln137Val) c.278_280delinsGTC (n.278_280delinsGTC) c.*47_*49delinsGTC (n.*47_*49delinsGTC) n.2536_2538delinsGTC n.458_460delinsGTC n.332_334delinsGTC c.208_210delinsGTC (p.Gln70Val) | |
14 | g.90404499_90404501delinsGTG | CA2579770693 | CALM1 | c.406_408delinsGTG (p.Gln136Val) c.298_300delinsGTG (p.Gln100Val) c.409_411delinsGTG (p.Gln137Val) c.278_280delinsGTG (n.278_280delinsGTG) c.*47_*49delinsGTG (n.*47_*49delinsGTG) n.2536_2538delinsGTG n.458_460delinsGTG n.332_334delinsGTG c.208_210delinsGTG (p.Gln70Val) | |
14 | g.90404499_90404501delinsGTT | CA2579773308 | CALM1 | c.406_408delinsGTT (p.Gln136Val) c.298_300delinsGTT (p.Gln100Val) c.409_411delinsGTT (p.Gln137Val) c.278_280delinsGTT (n.278_280delinsGTT) c.*47_*49delinsGTT (n.*47_*49delinsGTT) n.2536_2538delinsGTT n.458_460delinsGTT n.332_334delinsGTT c.208_210delinsGTT (p.Gln70Val) | |
14 | g.90404499_90404501delinsTAC | CA2579769828 | CALM1 | c.406_408delinsTAC (p.Gln136Tyr) c.298_300delinsTAC (p.Gln100Tyr) c.409_411delinsTAC (p.Gln137Tyr) c.278_280delinsTAC (n.278_280delinsTAC) c.*47_*49delinsTAC (n.*47_*49delinsTAC) n.2536_2538delinsTAC n.458_460delinsTAC n.332_334delinsTAC c.208_210delinsTAC (p.Gln70Tyr) | |
14 | g.90404499_90404501delinsTAG | CA2579772405 | CALM1 | c.406_408delinsTAG (p.Gln136Ter) c.298_300delinsTAG (p.Gln100Ter) c.409_411delinsTAG (p.Gln137Ter) c.278_280delinsTAG (n.278_280delinsTAG) c.*47_*49delinsTAG (n.*47_*49delinsTAG) n.2536_2538delinsTAG n.458_460delinsTAG n.332_334delinsTAG c.208_210delinsTAG (p.Gln70Ter) | |
14 | g.90404499_90404501delinsTAT | CA2579771653 | CALM1 | c.406_408delinsTAT (p.Gln136Tyr) c.298_300delinsTAT (p.Gln100Tyr) c.409_411delinsTAT (p.Gln137Tyr) c.278_280delinsTAT (n.278_280delinsTAT) c.*47_*49delinsTAT (n.*47_*49delinsTAT) n.2536_2538delinsTAT n.458_460delinsTAT n.332_334delinsTAT c.208_210delinsTAT (p.Gln70Tyr) | |
14 | g.90404499_90404501delinsTCT | CA2579770024 | CALM1 | c.406_408delinsTCT (p.Gln136Ser) c.298_300delinsTCT (p.Gln100Ser) c.409_411delinsTCT (p.Gln137Ser) c.278_280delinsTCT (n.278_280delinsTCT) c.*47_*49delinsTCT (n.*47_*49delinsTCT) n.2536_2538delinsTCT n.458_460delinsTCT n.332_334delinsTCT c.208_210delinsTCT (p.Gln70Ser) | |
14 | g.90404499_90404501delinsTGG | CA2579772828 | CALM1 | c.406_408delinsTGG (p.Gln136Trp) c.298_300delinsTGG (p.Gln100Trp) c.409_411delinsTGG (p.Gln137Trp) c.278_280delinsTGG (n.278_280delinsTGG) c.*47_*49delinsTGG (n.*47_*49delinsTGG) n.2536_2538delinsTGG n.458_460delinsTGG n.332_334delinsTGG c.208_210delinsTGG (p.Gln70Trp) | |
14 | g.90404499_90404501delinsTGT | CA2579770373 | CALM1 | c.406_408delinsTGT (p.Gln136Cys) c.298_300delinsTGT (p.Gln100Cys) c.409_411delinsTGT (p.Gln137Cys) c.278_280delinsTGT (n.278_280delinsTGT) c.*47_*49delinsTGT (n.*47_*49delinsTGT) n.2536_2538delinsTGT n.458_460delinsTGT n.332_334delinsTGT c.208_210delinsTGT (p.Gln70Cys) | |
14 | g.90404499_90404501delinsTTG | CA2579773812 | CALM1 | c.406_408delinsTTG (p.Gln136Leu) c.298_300delinsTTG (p.Gln100Leu) c.409_411delinsTTG (p.Gln137Leu) c.278_280delinsTTG (n.278_280delinsTTG) c.*47_*49delinsTTG (n.*47_*49delinsTTG) n.2536_2538delinsTTG n.458_460delinsTTG n.332_334delinsTTG c.208_210delinsTTG (p.Gln70Leu) | |
14 | g.90404499_90404501delinsTTT | CA2579771144 | CALM1 | c.406_408delinsTTT (p.Gln136Phe) c.298_300delinsTTT (p.Gln100Phe) c.409_411delinsTTT (p.Gln137Phe) c.278_280delinsTTT (n.278_280delinsTTT) c.*47_*49delinsTTT (n.*47_*49delinsTTT) n.2536_2538delinsTTT n.458_460delinsTTT n.332_334delinsTTT c.208_210delinsTTT (p.Gln70Phe) | |
14 | g.90404500A>C | CA390690383 | CALM1 | c.407A>C (p.Gln136Pro) c.299A>C (p.Gln100Pro) c.410A>C (p.Gln137Pro) c.279A>C (n.279A>C) c.*48A>C (n.*48A>C) n.2537A>C n.459A>C n.333A>C c.209A>C (p.Gln70Pro) | |
14 | g.90404500A>G | CA390690384 | CALM1 | c.407A>G (p.Gln136Arg) c.299A>G (p.Gln100Arg) c.410A>G (p.Gln137Arg) c.279A>G (n.279A>G) c.*48A>G (n.*48A>G) n.2537A>G n.459A>G n.333A>G c.209A>G (p.Gln70Arg) | |
14 | g.90404500A>T | CA390690385 | CALM1 | c.407A>T (p.Gln136Leu) c.299A>T (p.Gln100Leu) c.410A>T (p.Gln137Leu) c.279A>T (n.279A>T) c.*48A>T (n.*48A>T) n.2537A>T n.459A>T n.333A>T c.209A>T (p.Gln70Leu) | |
14 | g.90404500_90404501delinsCT | CA2579771146 | CALM1 | c.407_408delinsCT (p.Gln136Pro) c.299_300delinsCT (p.Gln100Pro) c.410_411delinsCT (p.Gln137Pro) c.279_280delinsCT (n.279_280delinsCT) c.*48_*49delinsCT (n.*48_*49delinsCT) n.2537_2538delinsCT n.459_460delinsCT n.333_334delinsCT c.209_210delinsCT (p.Gln70Pro) | |
14 | g.90404500_90404501delinsGG | CA2579773241 | CALM1 | c.407_408delinsGG (p.Gln136Arg) c.299_300delinsGG (p.Gln100Arg) c.410_411delinsGG (p.Gln137Arg) c.279_280delinsGG (n.279_280delinsGG) c.*48_*49delinsGG (n.*48_*49delinsGG) n.2537_2538delinsGG n.459_460delinsGG n.333_334delinsGG c.209_210delinsGG (p.Gln70Arg) | |
14 | g.90404500_90404501delinsGT | CA2579773100 | CALM1 | c.407_408delinsGT (p.Gln136Arg) c.299_300delinsGT (p.Gln100Arg) c.410_411delinsGT (p.Gln137Arg) c.279_280delinsGT (n.279_280delinsGT) c.*48_*49delinsGT (n.*48_*49delinsGT) n.2537_2538delinsGT n.459_460delinsGT n.333_334delinsGT c.209_210delinsGT (p.Gln70Arg) | |
14 | g.90404500_90404501delinsTC | CA2579772498 | CALM1 | c.407_408delinsTC (p.Gln136Leu) c.299_300delinsTC (p.Gln100Leu) c.410_411delinsTC (p.Gln137Leu) c.279_280delinsTC (n.279_280delinsTC) c.*48_*49delinsTC (n.*48_*49delinsTC) n.2537_2538delinsTC n.459_460delinsTC n.333_334delinsTC c.209_210delinsTC (p.Gln70Leu) | |
14 | g.90404500_90404501delinsTG | CA2579771903 | CALM1 | c.407_408delinsTG (p.Gln136Leu) c.299_300delinsTG (p.Gln100Leu) c.410_411delinsTG (p.Gln137Leu) c.279_280delinsTG (n.279_280delinsTG) c.*48_*49delinsTG (n.*48_*49delinsTG) n.2537_2538delinsTG n.459_460delinsTG n.333_334delinsTG c.209_210delinsTG (p.Gln70Leu) | |
14 | g.90404500_90404501delinsTT | CA2579774002 | CALM1 | c.407_408delinsTT (p.Gln136Leu) c.299_300delinsTT (p.Gln100Leu) c.410_411delinsTT (p.Gln137Leu) c.279_280delinsTT (n.279_280delinsTT) c.*48_*49delinsTT (n.*48_*49delinsTT) n.2537_2538delinsTT n.459_460delinsTT n.333_334delinsTT c.209_210delinsTT (p.Gln70Leu) | |
14 | g.90404501A>C | CA390690386 | CALM1 | c.408A>C (p.Gln136His) c.300A>C (p.Gln100His) c.411A>C (p.Gln137His) c.280A>C (n.280A>C) c.*49A>C (n.*49A>C) n.2538A>C n.460A>C n.334A>C c.210A>C (p.Gln70His) | |
14 | g.90404501A>G | CA487760446 | CALM1 | c.408A>G (p.Gln136=) c.300A>G (p.Gln100=) c.411A>G (p.Gln137=) c.280A>G (n.280A>G) c.*49A>G (n.*49A>G) n.2538A>G n.460A>G n.334A>G c.210A>G (p.Gln70=) | |
14 | g.90404501A>T | CA390690387 | CALM1 | c.408A>T (p.Gln136His) c.300A>T (p.Gln100His) c.411A>T (p.Gln137His) c.280A>T (n.280A>T) c.*49A>T (n.*49A>T) n.2538A>T n.460A>T n.334A>T c.210A>T (p.Gln70His) | |
14 | g.90404502G>A | CA390690389 | CALM1 | c.409G>A (p.Val137Ile) c.301G>A (p.Val101Ile) c.412G>A (p.Val138Ile) c.281G>A (n.281G>A) c.*50G>A (n.*50G>A) n.2539G>A n.461G>A n.335G>A c.211G>A (p.Val71Ile) | |
14 | g.90404502G>C | CA390690390 | CALM1 | c.409G>C (p.Val137Leu) c.301G>C (p.Val101Leu) c.412G>C (p.Val138Leu) c.281G>C (n.281G>C) c.*50G>C (n.*50G>C) n.2539G>C n.461G>C n.335G>C c.211G>C (p.Val71Leu) | |
14 | g.90404502G>T | CA390690388 | CALM1 | c.409G>T (p.Val137Phe) c.301G>T (p.Val101Phe) c.412G>T (p.Val138Phe) c.281G>T (n.281G>T) c.*50G>T (n.*50G>T) n.2539G>T n.461G>T n.335G>T c.211G>T (p.Val71Phe) | |
14 | g.90404502_90404503delinsAA | CA2579770755 | CALM1 | c.409_410delinsAA (p.Val137Asn) c.301_302delinsAA (p.Val101Asn) c.412_413delinsAA (p.Val138Asn) c.281_282delinsAA (n.281_282delinsAA) c.*50_*51delinsAA (n.*50_*51delinsAA) n.2539_2540delinsAA n.461_462delinsAA n.335_336delinsAA c.211_212delinsAA (p.Val71Asn) | |
14 | g.90404502_90404503delinsAC | CA2579771732 | CALM1 | c.409_410delinsAC (p.Val137Thr) c.301_302delinsAC (p.Val101Thr) c.412_413delinsAC (p.Val138Thr) c.281_282delinsAC (n.281_282delinsAC) c.*50_*51delinsAC (n.*50_*51delinsAC) n.2539_2540delinsAC n.461_462delinsAC n.335_336delinsAC c.211_212delinsAC (p.Val71Thr) | |
14 | g.90404502_90404503delinsAG | CA2579770612 | CALM1 | c.409_410delinsAG (p.Val137Ser) c.301_302delinsAG (p.Val101Ser) c.412_413delinsAG (p.Val138Ser) c.281_282delinsAG (n.281_282delinsAG) c.*50_*51delinsAG (n.*50_*51delinsAG) n.2539_2540delinsAG n.461_462delinsAG n.335_336delinsAG c.211_212delinsAG (p.Val71Ser) | |
14 | g.90404502_90404503delinsTA | CA2579771957 | CALM1 | c.409_410delinsTA (p.Val137Tyr) c.301_302delinsTA (p.Val101Tyr) c.412_413delinsTA (p.Val138Tyr) c.281_282delinsTA (n.281_282delinsTA) c.*50_*51delinsTA (n.*50_*51delinsTA) n.2539_2540delinsTA n.461_462delinsTA n.335_336delinsTA c.211_212delinsTA (p.Val71Tyr) | |
14 | g.90404502_90404503delinsTC | CA2579772299 | CALM1 | c.409_410delinsTC (p.Val137Ser) c.301_302delinsTC (p.Val101Ser) c.412_413delinsTC (p.Val138Ser) c.281_282delinsTC (n.281_282delinsTC) c.*50_*51delinsTC (n.*50_*51delinsTC) n.2539_2540delinsTC n.461_462delinsTC n.335_336delinsTC c.211_212delinsTC (p.Val71Ser) | |
14 | g.90404502_90404503delinsTG | CA2579769789 | CALM1 | c.409_410delinsTG (p.Val137Cys) c.301_302delinsTG (p.Val101Cys) c.412_413delinsTG (p.Val138Cys) c.281_282delinsTG (n.281_282delinsTG) c.*50_*51delinsTG (n.*50_*51delinsTG) n.2539_2540delinsTG n.461_462delinsTG n.335_336delinsTG c.211_212delinsTG (p.Val71Cys) | |
14 | g.90404502_90404504delinsAAG | CA2579773970 | CALM1 | c.409_411delinsAAG (p.Val137Lys) c.301_303delinsAAG (p.Val101Lys) c.412_414delinsAAG (p.Val138Lys) c.281_283delinsAAG (n.281_283delinsAAG) c.*50_*52delinsAAG (n.*50_*52delinsAAG) n.2539_2541delinsAAG n.461_463delinsAAG n.335_337delinsAAG c.211_213delinsAAG (p.Val71Lys) | |
14 | g.90404502_90404504delinsAAT | CA2579773429 | CALM1 | c.409_411delinsAAT (p.Val137Asn) c.301_303delinsAAT (p.Val101Asn) c.412_414delinsAAT (p.Val138Asn) c.281_283delinsAAT (n.281_283delinsAAT) c.*50_*52delinsAAT (n.*50_*52delinsAAT) n.2539_2541delinsAAT n.461_463delinsAAT n.335_337delinsAAT c.211_213delinsAAT (p.Val71Asn) | |
14 | g.90404502_90404504delinsATA | CA2579770128 | CALM1 | c.409_411delinsATA (p.Val137Ile) c.301_303delinsATA (p.Val101Ile) c.412_414delinsATA (p.Val138Ile) c.281_283delinsATA (n.281_283delinsATA) c.*50_*52delinsATA (n.*50_*52delinsATA) n.2539_2541delinsATA n.461_463delinsATA n.335_337delinsATA c.211_213delinsATA (p.Val71Ile) | |
14 | g.90404502_90404504delinsATG | CA2579773188 | CALM1 | c.409_411delinsATG (p.Val137Met) c.301_303delinsATG (p.Val101Met) c.412_414delinsATG (p.Val138Met) c.281_283delinsATG (n.281_283delinsATG) c.*50_*52delinsATG (n.*50_*52delinsATG) n.2539_2541delinsATG n.461_463delinsATG n.335_337delinsATG c.211_213delinsATG (p.Val71Met) | |
14 | g.90404502_90404504delinsATT | CA2579770085 | CALM1 | c.409_411delinsATT (p.Val137Ile) c.301_303delinsATT (p.Val101Ile) c.412_414delinsATT (p.Val138Ile) c.281_283delinsATT (n.281_283delinsATT) c.*50_*52delinsATT (n.*50_*52delinsATT) n.2539_2541delinsATT n.461_463delinsATT n.335_337delinsATT c.211_213delinsATT (p.Val71Ile) | |
14 | g.90404502_90404504delinsCAG | CA2579772776 | CALM1 | c.409_411delinsCAG (p.Val137Gln) c.301_303delinsCAG (p.Val101Gln) c.412_414delinsCAG (p.Val138Gln) c.281_283delinsCAG (n.281_283delinsCAG) c.*50_*52delinsCAG (n.*50_*52delinsCAG) n.2539_2541delinsCAG n.461_463delinsCAG n.335_337delinsCAG c.211_213delinsCAG (p.Val71Gln) | |
14 | g.90404502_90404504delinsCCT | CA2579772836 | CALM1 | c.409_411delinsCCT (p.Val137Pro) c.301_303delinsCCT (p.Val101Pro) c.412_414delinsCCT (p.Val138Pro) c.281_283delinsCCT (n.281_283delinsCCT) c.*50_*52delinsCCT (n.*50_*52delinsCCT) n.2539_2541delinsCCT n.461_463delinsCCT n.335_337delinsCCT c.211_213delinsCCT (p.Val71Pro) | |
14 | g.90404502_90404504delinsCTA | CA2579770872 | CALM1 | c.409_411delinsCTA (p.Val137Leu) c.301_303delinsCTA (p.Val101Leu) c.412_414delinsCTA (p.Val138Leu) c.281_283delinsCTA (n.281_283delinsCTA) c.*50_*52delinsCTA (n.*50_*52delinsCTA) n.2539_2541delinsCTA n.461_463delinsCTA n.335_337delinsCTA c.211_213delinsCTA (p.Val71Leu) | |
14 | g.90404502_90404504delinsCTG | CA2579774138 | CALM1 | c.409_411delinsCTG (p.Val137Leu) c.301_303delinsCTG (p.Val101Leu) c.412_414delinsCTG (p.Val138Leu) c.281_283delinsCTG (n.281_283delinsCTG) c.*50_*52delinsCTG (n.*50_*52delinsCTG) n.2539_2541delinsCTG n.461_463delinsCTG n.335_337delinsCTG c.211_213delinsCTG (p.Val71Leu) | |
14 | g.90404502_90404504delinsCTT | CA2579770703 | CALM1 | c.409_411delinsCTT (p.Val137Leu) c.301_303delinsCTT (p.Val101Leu) c.412_414delinsCTT (p.Val138Leu) c.281_283delinsCTT (n.281_283delinsCTT) c.*50_*52delinsCTT (n.*50_*52delinsCTT) n.2539_2541delinsCTT n.461_463delinsCTT n.335_337delinsCTT c.211_213delinsCTT (p.Val71Leu) | |
14 | g.90404502_90404504delinsTAG | CA2579773832 | CALM1 | c.409_411delinsTAG (p.Val137Ter) c.301_303delinsTAG (p.Val101Ter) c.412_414delinsTAG (p.Val138Ter) c.281_283delinsTAG (n.281_283delinsTAG) c.*50_*52delinsTAG (n.*50_*52delinsTAG) n.2539_2541delinsTAG n.461_463delinsTAG n.335_337delinsTAG c.211_213delinsTAG (p.Val71Ter) | |
14 | g.90404502_90404504delinsTAT | CA2579770938 | CALM1 | c.409_411delinsTAT (p.Val137Tyr) c.301_303delinsTAT (p.Val101Tyr) c.412_414delinsTAT (p.Val138Tyr) c.281_283delinsTAT (n.281_283delinsTAT) c.*50_*52delinsTAT (n.*50_*52delinsTAT) n.2539_2541delinsTAT n.461_463delinsTAT n.335_337delinsTAT c.211_213delinsTAT (p.Val71Tyr) | |
14 | g.90404502_90404504delinsTGG | CA2579773287 | CALM1 | c.409_411delinsTGG (p.Val137Trp) c.301_303delinsTGG (p.Val101Trp) c.412_414delinsTGG (p.Val138Trp) c.281_283delinsTGG (n.281_283delinsTGG) c.*50_*52delinsTGG (n.*50_*52delinsTGG) n.2539_2541delinsTGG n.461_463delinsTGG n.335_337delinsTGG c.211_213delinsTGG (p.Val71Trp) | |
14 | g.90404502_90404504delinsTTA | CA2579772942 | CALM1 | c.409_411delinsTTA (p.Val137Leu) c.301_303delinsTTA (p.Val101Leu) c.412_414delinsTTA (p.Val138Leu) c.281_283delinsTTA (n.281_283delinsTTA) c.*50_*52delinsTTA (n.*50_*52delinsTTA) n.2539_2541delinsTTA n.461_463delinsTTA n.335_337delinsTTA c.211_213delinsTTA (p.Val71Leu) | |
14 | g.90404502_90404504delinsTTG | CA2579774034 | CALM1 | c.409_411delinsTTG (p.Val137Leu) c.301_303delinsTTG (p.Val101Leu) c.412_414delinsTTG (p.Val138Leu) c.281_283delinsTTG (n.281_283delinsTTG) c.*50_*52delinsTTG (n.*50_*52delinsTTG) n.2539_2541delinsTTG n.461_463delinsTTG n.335_337delinsTTG c.211_213delinsTTG (p.Val71Leu) | |
14 | g.90404502_90404504delinsTTT | CA2579770483 | CALM1 | c.409_411delinsTTT (p.Val137Phe) c.301_303delinsTTT (p.Val101Phe) c.412_414delinsTTT (p.Val138Phe) c.281_283delinsTTT (n.281_283delinsTTT) c.*50_*52delinsTTT (n.*50_*52delinsTTT) n.2539_2541delinsTTT n.461_463delinsTTT n.335_337delinsTTT c.211_213delinsTTT (p.Val71Phe) | |
14 | g.90404503T>A | CA390690392 | CALM1 | c.410T>A (p.Val137Asp) c.302T>A (p.Val101Asp) c.413T>A (p.Val138Asp) c.282T>A (n.282T>A) c.*51T>A (n.*51T>A) n.2540T>A n.462T>A n.336T>A c.212T>A (p.Val71Asp) | |
14 | g.90404503T>C | CA390690391 | CALM1 | c.410T>C (p.Val137Ala) c.302T>C (p.Val101Ala) c.413T>C (p.Val138Ala) c.282T>C (n.282T>C) c.*51T>C (n.*51T>C) n.2540T>C n.462T>C n.336T>C c.212T>C (p.Val71Ala) | |
14 | g.90404503T>G | CA390690393 | CALM1 | c.410T>G (p.Val137Gly) c.302T>G (p.Val101Gly) c.413T>G (p.Val138Gly) c.282T>G (n.282T>G) c.*51T>G (n.*51T>G) n.2540T>G n.462T>G n.336T>G c.212T>G (p.Val71Gly) | |
14 | g.90404503_90404504delinsAA | CA2579772801 | CALM1 | c.410_411delinsAA (p.Val137Glu) c.302_303delinsAA (p.Val101Glu) c.413_414delinsAA (p.Val138Glu) c.282_283delinsAA (n.282_283delinsAA) c.*51_*52delinsAA (n.*51_*52delinsAA) n.2540_2541delinsAA n.462_463delinsAA n.336_337delinsAA c.212_213delinsAA (p.Val71Glu) | |
14 | g.90404503_90404504delinsAG | CA2579773935 | CALM1 | c.410_411delinsAG (p.Val137Glu) c.302_303delinsAG (p.Val101Glu) c.413_414delinsAG (p.Val138Glu) c.282_283delinsAG (n.282_283delinsAG) c.*51_*52delinsAG (n.*51_*52delinsAG) n.2540_2541delinsAG n.462_463delinsAG n.336_337delinsAG c.212_213delinsAG (p.Val71Glu) | |
14 | g.90404503_90404504delinsAT | CA2579773462 | CALM1 | c.410_411delinsAT (p.Val137Asp) c.302_303delinsAT (p.Val101Asp) c.413_414delinsAT (p.Val138Asp) c.282_283delinsAT (n.282_283delinsAT) c.*51_*52delinsAT (n.*51_*52delinsAT) n.2540_2541delinsAT n.462_463delinsAT n.336_337delinsAT c.212_213delinsAT (p.Val71Asp) | |
14 | g.90404503_90404504delinsCA | CA2579770738 | CALM1 | c.410_411delinsCA (p.Val137Ala) c.302_303delinsCA (p.Val101Ala) c.413_414delinsCA (p.Val138Ala) c.282_283delinsCA (n.282_283delinsCA) c.*51_*52delinsCA (n.*51_*52delinsCA) n.2540_2541delinsCA n.462_463delinsCA n.336_337delinsCA c.212_213delinsCA (p.Val71Ala) | |
14 | g.90404503_90404504delinsCT | CA2579774277 | CALM1 | c.410_411delinsCT (p.Val137Ala) c.302_303delinsCT (p.Val101Ala) c.413_414delinsCT (p.Val138Ala) c.282_283delinsCT (n.282_283delinsCT) c.*51_*52delinsCT (n.*51_*52delinsCT) n.2540_2541delinsCT n.462_463delinsCT n.336_337delinsCT c.212_213delinsCT (p.Val71Ala) | |
14 | g.90404503_90404504delinsGA | CA2579771159 | CALM1 | c.410_411delinsGA (p.Val137Gly) c.302_303delinsGA (p.Val101Gly) c.413_414delinsGA (p.Val138Gly) c.282_283delinsGA (n.282_283delinsGA) c.*51_*52delinsGA (n.*51_*52delinsGA) n.2540_2541delinsGA n.462_463delinsGA n.336_337delinsGA c.212_213delinsGA (p.Val71Gly) | |
14 | g.90404503_90404504delinsGG | CA2579770618 | CALM1 | c.410_411delinsGG (p.Val137Gly) c.302_303delinsGG (p.Val101Gly) c.413_414delinsGG (p.Val138Gly) c.282_283delinsGG (n.282_283delinsGG) c.*51_*52delinsGG (n.*51_*52delinsGG) n.2540_2541delinsGG n.462_463delinsGG n.336_337delinsGG c.212_213delinsGG (p.Val71Gly) | |
14 | g.90404503_90404504delinsGT | CA2579772944 | CALM1 | c.410_411delinsGT (p.Val137Gly) c.302_303delinsGT (p.Val101Gly) c.413_414delinsGT (p.Val138Gly) c.282_283delinsGT (n.282_283delinsGT) c.*51_*52delinsGT (n.*51_*52delinsGT) n.2540_2541delinsGT n.462_463delinsGT n.336_337delinsGT c.212_213delinsGT (p.Val71Gly) | |
14 | g.90404504C>A | CA487760455 | CALM1 | c.411C>A (p.Val137=) c.303C>A (p.Val101=) c.414C>A (p.Val138=) c.283C>A (n.283C>A) c.*52C>A (n.*52C>A) n.2541C>A n.463C>A n.337C>A c.213C>A (p.Val71=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.90404504C= | CA2154484202 | CALM1 | c.411C= (p.Val137=) c.303C= (p.Val101=) c.414C= (p.Val138=) c.283C= (n.283C=) c.*52C= (n.*52C=) n.2541C= n.463C= n.337C= c.213C= (p.Val71=) | |
14 | g.90404504C>G | CA7305804 | CALM1 | c.411C>G (p.Val137=) c.303C>G (p.Val101=) c.414C>G (p.Val138=) c.283C>G (n.283C>G) c.*52C>G (n.*52C>G) n.2541C>G n.463C>G n.337C>G c.213C>G (p.Val71=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404504C>T | CA487760457 | CALM1 | c.411C>T (p.Val137=) c.303C>T (p.Val101=) c.414C>T (p.Val138=) c.283C>T (n.283C>T) c.*52C>T (n.*52C>T) n.2541C>T n.463C>T n.337C>T c.213C>T (p.Val71=) | |
14 | g.90404505A>C | CA390690394 | CALM1 | c.412A>C (p.Asn138His) c.304A>C (p.Asn102His) c.415A>C (p.Asn139His) c.284A>C (n.284A>C) c.*53A>C (n.*53A>C) n.2542A>C n.464A>C n.338A>C c.214A>C (p.Asn72His) | |
14 | g.90404505A>G | CA390690395 | CALM1 | c.412A>G (p.Asn138Asp) c.304A>G (p.Asn102Asp) c.415A>G (p.Asn139Asp) c.284A>G (n.284A>G) c.*53A>G (n.*53A>G) n.2542A>G n.464A>G n.338A>G c.214A>G (p.Asn72Asp) | |
14 | g.90404505A>T | CA390690396 | CALM1 | c.412A>T (p.Asn138Tyr) c.304A>T (p.Asn102Tyr) c.415A>T (p.Asn139Tyr) c.284A>T (n.284A>T) c.*53A>T (n.*53A>T) n.2542A>T n.464A>T n.338A>T c.214A>T (p.Asn72Tyr) | |
14 | g.90404505_90404506delinsCC | CA2579769812 | CALM1 | c.412_413delinsCC (p.Asn138Pro) c.304_305delinsCC (p.Asn102Pro) c.415_416delinsCC (p.Asn139Pro) c.284_285delinsCC (n.284_285delinsCC) c.*53_*54delinsCC (n.*53_*54delinsCC) n.2542_2543delinsCC n.464_465delinsCC n.338_339delinsCC c.214_215delinsCC (p.Asn72Pro) | |
14 | g.90404505_90404506delinsCG | CA2579771730 | CALM1 | c.412_413delinsCG (p.Asn138Arg) c.304_305delinsCG (p.Asn102Arg) c.415_416delinsCG (p.Asn139Arg) c.284_285delinsCG (n.284_285delinsCG) c.*53_*54delinsCG (n.*53_*54delinsCG) n.2542_2543delinsCG n.464_465delinsCG n.338_339delinsCG c.214_215delinsCG (p.Asn72Arg) | |
14 | g.90404505_90404506delinsCT | CA2579771660 | CALM1 | c.412_413delinsCT (p.Asn138Leu) c.304_305delinsCT (p.Asn102Leu) c.415_416delinsCT (p.Asn139Leu) c.284_285delinsCT (n.284_285delinsCT) c.*53_*54delinsCT (n.*53_*54delinsCT) n.2542_2543delinsCT n.464_465delinsCT n.338_339delinsCT c.214_215delinsCT (p.Asn72Leu) | |
14 | g.90404505_90404506delinsGC | CA2579772221 | CALM1 | c.412_413delinsGC (p.Asn138Ala) c.304_305delinsGC (p.Asn102Ala) c.415_416delinsGC (p.Asn139Ala) c.284_285delinsGC (n.284_285delinsGC) c.*53_*54delinsGC (n.*53_*54delinsGC) n.2542_2543delinsGC n.464_465delinsGC n.338_339delinsGC c.214_215delinsGC (p.Asn72Ala) | |
14 | g.90404505_90404506delinsGG | CA2579772201 | CALM1 | c.412_413delinsGG (p.Asn138Gly) c.304_305delinsGG (p.Asn102Gly) c.415_416delinsGG (p.Asn139Gly) c.284_285delinsGG (n.284_285delinsGG) c.*53_*54delinsGG (n.*53_*54delinsGG) n.2542_2543delinsGG n.464_465delinsGG n.338_339delinsGG c.214_215delinsGG (p.Asn72Gly) | |
14 | g.90404505_90404506delinsGT | CA2579772440 | CALM1 | c.412_413delinsGT (p.Asn138Val) c.304_305delinsGT (p.Asn102Val) c.415_416delinsGT (p.Asn139Val) c.284_285delinsGT (n.284_285delinsGT) c.*53_*54delinsGT (n.*53_*54delinsGT) n.2542_2543delinsGT n.464_465delinsGT n.338_339delinsGT c.214_215delinsGT (p.Asn72Val) | |
14 | g.90404505_90404506delinsTG | CA2579769758 | CALM1 | c.412_413delinsTG (p.Asn138Cys) c.304_305delinsTG (p.Asn102Cys) c.415_416delinsTG (p.Asn139Cys) c.284_285delinsTG (n.284_285delinsTG) c.*53_*54delinsTG (n.*53_*54delinsTG) n.2542_2543delinsTG n.464_465delinsTG n.338_339delinsTG c.214_215delinsTG (p.Asn72Cys) | |
14 | g.90404505_90404506delinsTT | CA2579772106 | CALM1 | c.412_413delinsTT (p.Asn138Phe) c.304_305delinsTT (p.Asn102Phe) c.415_416delinsTT (p.Asn139Phe) c.284_285delinsTT (n.284_285delinsTT) c.*53_*54delinsTT (n.*53_*54delinsTT) n.2542_2543delinsTT n.464_465delinsTT n.338_339delinsTT c.214_215delinsTT (p.Asn72Phe) | |
14 | g.90404505_90404507delinsCAT | CA2579772867 | CALM1 | c.412_414delinsCAT (p.Asn138His) c.304_306delinsCAT (p.Asn102His) c.415_417delinsCAT (p.Asn139His) c.284_286delinsCAT (n.284_286delinsCAT) c.*53_*55delinsCAT (n.*53_*55delinsCAT) n.2542_2544delinsCAT n.464_466delinsCAT n.338_340delinsCAT c.214_216delinsCAT (p.Asn72His) | |
14 | g.90404505_90404507delinsCCT | CA2579772857 | CALM1 | c.412_414delinsCCT (p.Asn138Pro) c.304_306delinsCCT (p.Asn102Pro) c.415_417delinsCCT (p.Asn139Pro) c.284_286delinsCCT (n.284_286delinsCCT) c.*53_*55delinsCCT (n.*53_*55delinsCCT) n.2542_2544delinsCCT n.464_466delinsCCT n.338_340delinsCCT c.214_216delinsCCT (p.Asn72Pro) | |
14 | g.90404505_90404507delinsCGT | CA2579771339 | CALM1 | c.412_414delinsCGT (p.Asn138Arg) c.304_306delinsCGT (p.Asn102Arg) c.415_417delinsCGT (p.Asn139Arg) c.284_286delinsCGT (n.284_286delinsCGT) c.*53_*55delinsCGT (n.*53_*55delinsCGT) n.2542_2544delinsCGT n.464_466delinsCGT n.338_340delinsCGT c.214_216delinsCGT (p.Asn72Arg) | |
14 | g.90404505_90404507delinsCTT | CA2579770476 | CALM1 | c.412_414delinsCTT (p.Asn138Leu) c.304_306delinsCTT (p.Asn102Leu) c.415_417delinsCTT (p.Asn139Leu) c.284_286delinsCTT (n.284_286delinsCTT) c.*53_*55delinsCTT (n.*53_*55delinsCTT) n.2542_2544delinsCTT n.464_466delinsCTT n.338_340delinsCTT c.214_216delinsCTT (p.Asn72Leu) | |
14 | g.90404505_90404507delinsGAA | CA2579770190 | CALM1 | c.412_414delinsGAA (p.Asn138Glu) c.304_306delinsGAA (p.Asn102Glu) c.415_417delinsGAA (p.Asn139Glu) c.284_286delinsGAA (n.284_286delinsGAA) c.*53_*55delinsGAA (n.*53_*55delinsGAA) n.2542_2544delinsGAA n.464_466delinsGAA n.338_340delinsGAA c.214_216delinsGAA (p.Asn72Glu) | |
14 | g.90404505_90404507delinsGAG | CA2579774328 | CALM1 | c.412_414delinsGAG (p.Asn138Glu) c.304_306delinsGAG (p.Asn102Glu) c.415_417delinsGAG (p.Asn139Glu) c.284_286delinsGAG (n.284_286delinsGAG) c.*53_*55delinsGAG (n.*53_*55delinsGAG) n.2542_2544delinsGAG n.464_466delinsGAG n.338_340delinsGAG c.214_216delinsGAG (p.Asn72Glu) | |
14 | g.90404505_90404507delinsGAT | CA2579772474 | CALM1 | c.412_414delinsGAT (p.Asn138Asp) c.304_306delinsGAT (p.Asn102Asp) c.415_417delinsGAT (p.Asn139Asp) c.284_286delinsGAT (n.284_286delinsGAT) c.*53_*55delinsGAT (n.*53_*55delinsGAT) n.2542_2544delinsGAT n.464_466delinsGAT n.338_340delinsGAT c.214_216delinsGAT (p.Asn72Asp) | |
14 | g.90404505_90404507delinsGCT | CA2579773278 | CALM1 | c.412_414delinsGCT (p.Asn138Ala) c.304_306delinsGCT (p.Asn102Ala) c.415_417delinsGCT (p.Asn139Ala) c.284_286delinsGCT (n.284_286delinsGCT) c.*53_*55delinsGCT (n.*53_*55delinsGCT) n.2542_2544delinsGCT n.464_466delinsGCT n.338_340delinsGCT c.214_216delinsGCT (p.Asn72Ala) | |
14 | g.90404505_90404507delinsGGG | CA2579774174 | CALM1 | c.412_414delinsGGG (p.Asn138Gly) c.304_306delinsGGG (p.Asn102Gly) c.415_417delinsGGG (p.Asn139Gly) c.284_286delinsGGG (n.284_286delinsGGG) c.*53_*55delinsGGG (n.*53_*55delinsGGG) n.2542_2544delinsGGG n.464_466delinsGGG n.338_340delinsGGG c.214_216delinsGGG (p.Asn72Gly) | |
14 | g.90404505_90404507delinsGGT | CA2579770021 | CALM1 | c.412_414delinsGGT (p.Asn138Gly) c.304_306delinsGGT (p.Asn102Gly) c.415_417delinsGGT (p.Asn139Gly) c.284_286delinsGGT (n.284_286delinsGGT) c.*53_*55delinsGGT (n.*53_*55delinsGGT) n.2542_2544delinsGGT n.464_466delinsGGT n.338_340delinsGGT c.214_216delinsGGT (p.Asn72Gly) | |
14 | g.90404505_90404507delinsGTT | CA2579771876 | CALM1 | c.412_414delinsGTT (p.Asn138Val) c.304_306delinsGTT (p.Asn102Val) c.415_417delinsGTT (p.Asn139Val) c.284_286delinsGTT (n.284_286delinsGTT) c.*53_*55delinsGTT (n.*53_*55delinsGTT) n.2542_2544delinsGTT n.464_466delinsGTT n.338_340delinsGTT c.214_216delinsGTT (p.Asn72Val) | |
14 | g.90404505_90404507delinsTAA | CA2579770581 | CALM1 | c.412_414delinsTAA (p.Asn138Ter) c.304_306delinsTAA (p.Asn102Ter) c.415_417delinsTAA (p.Asn139Ter) c.284_286delinsTAA (n.284_286delinsTAA) c.*53_*55delinsTAA (n.*53_*55delinsTAA) n.2542_2544delinsTAA n.464_466delinsTAA n.338_340delinsTAA c.214_216delinsTAA (p.Asn72Ter) | |
14 | g.90404505_90404507delinsTAG | CA2579772921 | CALM1 | c.412_414delinsTAG (p.Asn138Ter) c.304_306delinsTAG (p.Asn102Ter) c.415_417delinsTAG (p.Asn139Ter) c.284_286delinsTAG (n.284_286delinsTAG) c.*53_*55delinsTAG (n.*53_*55delinsTAG) n.2542_2544delinsTAG n.464_466delinsTAG n.338_340delinsTAG c.214_216delinsTAG (p.Asn72Ter) | |
14 | g.90404505_90404507delinsTAT | CA2579773448 | CALM1 | c.412_414delinsTAT (p.Asn138Tyr) c.304_306delinsTAT (p.Asn102Tyr) c.415_417delinsTAT (p.Asn139Tyr) c.284_286delinsTAT (n.284_286delinsTAT) c.*53_*55delinsTAT (n.*53_*55delinsTAT) n.2542_2544delinsTAT n.464_466delinsTAT n.338_340delinsTAT c.214_216delinsTAT (p.Asn72Tyr) | |
14 | g.90404505_90404507delinsTCG | CA2579773856 | CALM1 | c.412_414delinsTCG (p.Asn138Ser) c.304_306delinsTCG (p.Asn102Ser) c.415_417delinsTCG (p.Asn139Ser) c.284_286delinsTCG (n.284_286delinsTCG) c.*53_*55delinsTCG (n.*53_*55delinsTCG) n.2542_2544delinsTCG n.464_466delinsTCG n.338_340delinsTCG c.214_216delinsTCG (p.Asn72Ser) | |
14 | g.90404505_90404507delinsTCT | CA2579771506 | CALM1 | c.412_414delinsTCT (p.Asn138Ser) c.304_306delinsTCT (p.Asn102Ser) c.415_417delinsTCT (p.Asn139Ser) c.284_286delinsTCT (n.284_286delinsTCT) c.*53_*55delinsTCT (n.*53_*55delinsTCT) n.2542_2544delinsTCT n.464_466delinsTCT n.338_340delinsTCT c.214_216delinsTCT (p.Asn72Ser) | |
14 | g.90404505_90404507delinsTGG | CA2579770141 | CALM1 | c.412_414delinsTGG (p.Asn138Trp) c.304_306delinsTGG (p.Asn102Trp) c.415_417delinsTGG (p.Asn139Trp) c.284_286delinsTGG (n.284_286delinsTGG) c.*53_*55delinsTGG (n.*53_*55delinsTGG) n.2542_2544delinsTGG n.464_466delinsTGG n.338_340delinsTGG c.214_216delinsTGG (p.Asn72Trp) | |
14 | g.90404505_90404507delinsTGT | CA2579773805 | CALM1 | c.412_414delinsTGT (p.Asn138Cys) c.304_306delinsTGT (p.Asn102Cys) c.415_417delinsTGT (p.Asn139Cys) c.284_286delinsTGT (n.284_286delinsTGT) c.*53_*55delinsTGT (n.*53_*55delinsTGT) n.2542_2544delinsTGT n.464_466delinsTGT n.338_340delinsTGT c.214_216delinsTGT (p.Asn72Cys) | |
14 | g.90404505_90404507delinsTTG | CA2579769945 | CALM1 | c.412_414delinsTTG (p.Asn138Leu) c.304_306delinsTTG (p.Asn102Leu) c.415_417delinsTTG (p.Asn139Leu) c.284_286delinsTTG (n.284_286delinsTTG) c.*53_*55delinsTTG (n.*53_*55delinsTTG) n.2542_2544delinsTTG n.464_466delinsTTG n.338_340delinsTTG c.214_216delinsTTG (p.Asn72Leu) | |
14 | g.90404505_90404507delinsTTT | CA2579770358 | CALM1 | c.412_414delinsTTT (p.Asn138Phe) c.304_306delinsTTT (p.Asn102Phe) c.415_417delinsTTT (p.Asn139Phe) c.284_286delinsTTT (n.284_286delinsTTT) c.*53_*55delinsTTT (n.*53_*55delinsTTT) n.2542_2544delinsTTT n.464_466delinsTTT n.338_340delinsTTT c.214_216delinsTTT (p.Asn72Phe) | |
14 | g.90404506A>C | CA390690397 | CALM1 | c.413A>C (p.Asn138Thr) c.305A>C (p.Asn102Thr) c.416A>C (p.Asn139Thr) c.285A>C (n.285A>C) c.*54A>C (n.*54A>C) n.2543A>C n.465A>C n.339A>C c.215A>C (p.Asn72Thr) | |
14 | g.90404506A>G | CA390690398 | CALM1 | c.413A>G (p.Asn138Ser) c.305A>G (p.Asn102Ser) c.416A>G (p.Asn139Ser) c.285A>G (n.285A>G) c.*54A>G (n.*54A>G) n.2543A>G n.465A>G n.339A>G c.215A>G (p.Asn72Ser) | COSMIC |
14 | g.90404506A>T | CA390690399 | CALM1 | c.413A>T (p.Asn138Ile) c.305A>T (p.Asn102Ile) c.416A>T (p.Asn139Ile) c.285A>T (n.285A>T) c.*54A>T (n.*54A>T) n.2543A>T n.465A>T n.339A>T c.215A>T (p.Asn72Ile) | |
14 | g.90404506_90404507delinsCG | CA2579774006 | CALM1 | c.413_414delinsCG (p.Asn138Thr) c.305_306delinsCG (p.Asn102Thr) c.416_417delinsCG (p.Asn139Thr) c.285_286delinsCG (n.285_286delinsCG) c.*54_*55delinsCG (n.*54_*55delinsCG) n.2543_2544delinsCG n.465_466delinsCG n.339_340delinsCG c.215_216delinsCG (p.Asn72Thr) | |
14 | g.90404506_90404507delinsCT | CA2579771109 | CALM1 | c.413_414delinsCT (p.Asn138Thr) c.305_306delinsCT (p.Asn102Thr) c.416_417delinsCT (p.Asn139Thr) c.285_286delinsCT (n.285_286delinsCT) c.*54_*55delinsCT (n.*54_*55delinsCT) n.2543_2544delinsCT n.465_466delinsCT n.339_340delinsCT c.215_216delinsCT (p.Asn72Thr) | |
14 | g.90404506_90404507delinsGA | CA2579773633 | CALM1 | c.413_414delinsGA (p.Asn138Arg) c.305_306delinsGA (p.Asn102Arg) c.416_417delinsGA (p.Asn139Arg) c.285_286delinsGA (n.285_286delinsGA) c.*54_*55delinsGA (n.*54_*55delinsGA) n.2543_2544delinsGA n.465_466delinsGA n.339_340delinsGA c.215_216delinsGA (p.Asn72Arg) | |
14 | g.90404506_90404507delinsGG | CA2579771648 | CALM1 | c.413_414delinsGG (p.Asn138Arg) c.305_306delinsGG (p.Asn102Arg) c.416_417delinsGG (p.Asn139Arg) c.285_286delinsGG (n.285_286delinsGG) c.*54_*55delinsGG (n.*54_*55delinsGG) n.2543_2544delinsGG n.465_466delinsGG n.339_340delinsGG c.215_216delinsGG (p.Asn72Arg) | |
14 | g.90404506_90404507delinsGT | CA2579770269 | CALM1 | c.413_414delinsGT (p.Asn138Ser) c.305_306delinsGT (p.Asn102Ser) c.416_417delinsGT (p.Asn139Ser) c.285_286delinsGT (n.285_286delinsGT) c.*54_*55delinsGT (n.*54_*55delinsGT) n.2543_2544delinsGT n.465_466delinsGT n.339_340delinsGT c.215_216delinsGT (p.Asn72Ser) | |
14 | g.90404506_90404507delinsTA | CA2579771569 | CALM1 | c.413_414delinsTA (p.Asn138Ile) c.305_306delinsTA (p.Asn102Ile) c.416_417delinsTA (p.Asn139Ile) c.285_286delinsTA (n.285_286delinsTA) c.*54_*55delinsTA (n.*54_*55delinsTA) n.2543_2544delinsTA n.465_466delinsTA n.339_340delinsTA c.215_216delinsTA (p.Asn72Ile) | |
14 | g.90404506_90404507delinsTT | CA2579773576 | CALM1 | c.413_414delinsTT (p.Asn138Ile) c.305_306delinsTT (p.Asn102Ile) c.416_417delinsTT (p.Asn139Ile) c.285_286delinsTT (n.285_286delinsTT) c.*54_*55delinsTT (n.*54_*55delinsTT) n.2543_2544delinsTT n.465_466delinsTT n.339_340delinsTT c.215_216delinsTT (p.Asn72Ile) | |
14 | g.90404507C>A | CA390690400 | CALM1 | c.414C>A (p.Asn138Lys) c.306C>A (p.Asn102Lys) c.417C>A (p.Asn139Lys) c.286C>A (n.286C>A) c.*55C>A (n.*55C>A) n.2544C>A n.466C>A n.340C>A c.216C>A (p.Asn72Lys) | |
14 | g.90404507C= | CA2154484207 | CALM1 | c.414C= (p.Asn138=) c.306C= (p.Asn102=) c.417C= (p.Asn139=) c.286C= (n.286C=) c.*55C= (n.*55C=) n.2544C= n.466C= n.340C= c.216C= (p.Asn72=) | |
14 | g.90404507C>G | CA390690401 | CALM1 | c.414C>G (p.Asn138Lys) c.306C>G (p.Asn102Lys) c.417C>G (p.Asn139Lys) c.286C>G (n.286C>G) c.*55C>G (n.*55C>G) n.2544C>G n.466C>G n.340C>G c.216C>G (p.Asn72Lys) | |
14 | g.90404507C>T | CA7305805 | CALM1 | c.414C>T (p.Asn138=) c.306C>T (p.Asn102=) c.417C>T (p.Asn139=) c.286C>T (n.286C>T) c.*55C>T (n.*55C>T) n.2544C>T n.466C>T n.340C>T c.216C>T (p.Asn72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404508T>A | CA390690402 | CALM1 | c.415T>A (p.Tyr139Asn) c.307T>A (p.Tyr103Asn) c.418T>A (p.Tyr140Asn) c.287T>A (n.287T>A) c.*56T>A (n.*56T>A) n.2545T>A n.467T>A n.341T>A c.217T>A (p.Tyr73Asn) | |
14 | g.90404508T>C | CA390690403 | CALM1 | c.415T>C (p.Tyr139His) c.307T>C (p.Tyr103His) c.418T>C (p.Tyr140His) c.287T>C (n.287T>C) c.*56T>C (n.*56T>C) n.2545T>C n.467T>C n.341T>C c.217T>C (p.Tyr73His) | |
14 | g.90404508T>G | CA390690404 | CALM1 | c.415T>G (p.Tyr139Asp) c.307T>G (p.Tyr103Asp) c.418T>G (p.Tyr140Asp) c.287T>G (n.287T>G) c.*56T>G (n.*56T>G) n.2545T>G n.467T>G n.341T>G c.217T>G (p.Tyr73Asp) | |
14 | g.90404508_90404509delinsAC | CA2579769980 | CALM1 | c.415_416delinsAC (p.Tyr139Thr) c.307_308delinsAC (p.Tyr103Thr) c.418_419delinsAC (p.Tyr140Thr) c.287_288delinsAC (n.287_288delinsAC) c.*56_*57delinsAC (n.*56_*57delinsAC) n.2545_2546delinsAC n.467_468delinsAC n.341_342delinsAC c.217_218delinsAC (p.Tyr73Thr) | |
14 | g.90404508_90404509delinsAG | CA2579772584 | CALM1 | c.415_416delinsAG (p.Tyr139Ser) c.307_308delinsAG (p.Tyr103Ser) c.418_419delinsAG (p.Tyr140Ser) c.287_288delinsAG (n.287_288delinsAG) c.*56_*57delinsAG (n.*56_*57delinsAG) n.2545_2546delinsAG n.467_468delinsAG n.341_342delinsAG c.217_218delinsAG (p.Tyr73Ser) | |
14 | g.90404508_90404509delinsAT | CA2579773876 | CALM1 | c.415_416delinsAT (p.Tyr139Ile) c.307_308delinsAT (p.Tyr103Ile) c.418_419delinsAT (p.Tyr140Ile) c.287_288delinsAT (n.287_288delinsAT) c.*56_*57delinsAT (n.*56_*57delinsAT) n.2545_2546delinsAT n.467_468delinsAT n.341_342delinsAT c.217_218delinsAT (p.Tyr73Ile) | |
14 | g.90404508_90404509delinsCC | CA2579771921 | CALM1 | c.415_416delinsCC (p.Tyr139Pro) c.307_308delinsCC (p.Tyr103Pro) c.418_419delinsCC (p.Tyr140Pro) c.287_288delinsCC (n.287_288delinsCC) c.*56_*57delinsCC (n.*56_*57delinsCC) n.2545_2546delinsCC n.467_468delinsCC n.341_342delinsCC c.217_218delinsCC (p.Tyr73Pro) | |
14 | g.90404508_90404509delinsCG | CA2579771952 | CALM1 | c.415_416delinsCG (p.Tyr139Arg) c.307_308delinsCG (p.Tyr103Arg) c.418_419delinsCG (p.Tyr140Arg) c.287_288delinsCG (n.287_288delinsCG) c.*56_*57delinsCG (n.*56_*57delinsCG) n.2545_2546delinsCG n.467_468delinsCG n.341_342delinsCG c.217_218delinsCG (p.Tyr73Arg) | |
14 | g.90404508_90404509delinsCT | CA2579772478 | CALM1 | c.415_416delinsCT (p.Tyr139Leu) c.307_308delinsCT (p.Tyr103Leu) c.418_419delinsCT (p.Tyr140Leu) c.287_288delinsCT (n.287_288delinsCT) c.*56_*57delinsCT (n.*56_*57delinsCT) n.2545_2546delinsCT n.467_468delinsCT n.341_342delinsCT c.217_218delinsCT (p.Tyr73Leu) | |
14 | g.90404508_90404509delinsGC | CA2579773823 | CALM1 | c.415_416delinsGC (p.Tyr139Ala) c.307_308delinsGC (p.Tyr103Ala) c.418_419delinsGC (p.Tyr140Ala) c.287_288delinsGC (n.287_288delinsGC) c.*56_*57delinsGC (n.*56_*57delinsGC) n.2545_2546delinsGC n.467_468delinsGC n.341_342delinsGC c.217_218delinsGC (p.Tyr73Ala) | |
14 | g.90404508_90404509delinsGG | CA2579770987 | CALM1 | c.415_416delinsGG (p.Tyr139Gly) c.307_308delinsGG (p.Tyr103Gly) c.418_419delinsGG (p.Tyr140Gly) c.287_288delinsGG (n.287_288delinsGG) c.*56_*57delinsGG (n.*56_*57delinsGG) n.2545_2546delinsGG n.467_468delinsGG n.341_342delinsGG c.217_218delinsGG (p.Tyr73Gly) | |
14 | g.90404508_90404509delinsGT | CA2579774119 | CALM1 | c.415_416delinsGT (p.Tyr139Val) c.307_308delinsGT (p.Tyr103Val) c.418_419delinsGT (p.Tyr140Val) c.287_288delinsGT (n.287_288delinsGT) c.*56_*57delinsGT (n.*56_*57delinsGT) n.2545_2546delinsGT n.467_468delinsGT n.341_342delinsGT c.217_218delinsGT (p.Tyr73Val) | |
14 | g.90404508_90404510delinsAAA | CA2579770453 | CALM1 | c.415_417delinsAAA (p.Tyr139Lys) c.307_309delinsAAA (p.Tyr103Lys) c.418_420delinsAAA (p.Tyr140Lys) c.287_289delinsAAA (n.287_289delinsAAA) c.*56_*58delinsAAA (n.*56_*58delinsAAA) n.2545_2547delinsAAA n.467_469delinsAAA n.341_343delinsAAA c.217_219delinsAAA (p.Tyr73Lys) | |
14 | g.90404508_90404510delinsAAC | CA2579772427 | CALM1 | c.415_417delinsAAC (p.Tyr139Asn) c.307_309delinsAAC (p.Tyr103Asn) c.418_420delinsAAC (p.Tyr140Asn) c.287_289delinsAAC (n.287_289delinsAAC) c.*56_*58delinsAAC (n.*56_*58delinsAAC) n.2545_2547delinsAAC n.467_469delinsAAC n.341_343delinsAAC c.217_219delinsAAC (p.Tyr73Asn) | |
14 | g.90404508_90404510delinsAAG | CA2579773881 | CALM1 | c.415_417delinsAAG (p.Tyr139Lys) c.307_309delinsAAG (p.Tyr103Lys) c.418_420delinsAAG (p.Tyr140Lys) c.287_289delinsAAG (n.287_289delinsAAG) c.*56_*58delinsAAG (n.*56_*58delinsAAG) n.2545_2547delinsAAG n.467_469delinsAAG n.341_343delinsAAG c.217_219delinsAAG (p.Tyr73Lys) | |
14 | g.90404508_90404510delinsACG | CA2579771254 | CALM1 | c.415_417delinsACG (p.Tyr139Thr) c.307_309delinsACG (p.Tyr103Thr) c.418_420delinsACG (p.Tyr140Thr) c.287_289delinsACG (n.287_289delinsACG) c.*56_*58delinsACG (n.*56_*58delinsACG) n.2545_2547delinsACG n.467_469delinsACG n.341_343delinsACG c.217_219delinsACG (p.Tyr73Thr) | |
14 | g.90404508_90404510delinsAGG | CA2579773465 | CALM1 | c.415_417delinsAGG (p.Tyr139Arg) c.307_309delinsAGG (p.Tyr103Arg) c.418_420delinsAGG (p.Tyr140Arg) c.287_289delinsAGG (n.287_289delinsAGG) c.*56_*58delinsAGG (n.*56_*58delinsAGG) n.2545_2547delinsAGG n.467_469delinsAGG n.341_343delinsAGG c.217_219delinsAGG (p.Tyr73Arg) | |
14 | g.90404508_90404510delinsCAC | CA2579774009 | CALM1 | c.415_417delinsCAC (p.Tyr139His) c.307_309delinsCAC (p.Tyr103His) c.418_420delinsCAC (p.Tyr140His) c.287_289delinsCAC (n.287_289delinsCAC) c.*56_*58delinsCAC (n.*56_*58delinsCAC) n.2545_2547delinsCAC n.467_469delinsCAC n.341_343delinsCAC c.217_219delinsCAC (p.Tyr73His) | |
14 | g.90404508_90404510delinsCAG | CA2579770893 | CALM1 | c.415_417delinsCAG (p.Tyr139Gln) c.307_309delinsCAG (p.Tyr103Gln) c.418_420delinsCAG (p.Tyr140Gln) c.287_289delinsCAG (n.287_289delinsCAG) c.*56_*58delinsCAG (n.*56_*58delinsCAG) n.2545_2547delinsCAG n.467_469delinsCAG n.341_343delinsCAG c.217_219delinsCAG (p.Tyr73Gln) | |
14 | g.90404508_90404510delinsCCG | CA2579769969 | CALM1 | c.415_417delinsCCG (p.Tyr139Pro) c.307_309delinsCCG (p.Tyr103Pro) c.418_420delinsCCG (p.Tyr140Pro) c.287_289delinsCCG (n.287_289delinsCCG) c.*56_*58delinsCCG (n.*56_*58delinsCCG) n.2545_2547delinsCCG n.467_469delinsCCG n.341_343delinsCCG c.217_219delinsCCG (p.Tyr73Pro) | |
14 | g.90404508_90404510delinsCGG | CA2579770036 | CALM1 | c.415_417delinsCGG (p.Tyr139Arg) c.307_309delinsCGG (p.Tyr103Arg) c.418_420delinsCGG (p.Tyr140Arg) c.287_289delinsCGG (n.287_289delinsCGG) c.*56_*58delinsCGG (n.*56_*58delinsCGG) n.2545_2547delinsCGG n.467_469delinsCGG n.341_343delinsCGG c.217_219delinsCGG (p.Tyr73Arg) | |
14 | g.90404508_90404510delinsCTG | CA2579771524 | CALM1 | c.415_417delinsCTG (p.Tyr139Leu) c.307_309delinsCTG (p.Tyr103Leu) c.418_420delinsCTG (p.Tyr140Leu) c.287_289delinsCTG (n.287_289delinsCTG) c.*56_*58delinsCTG (n.*56_*58delinsCTG) n.2545_2547delinsCTG n.467_469delinsCTG n.341_343delinsCTG c.217_219delinsCTG (p.Tyr73Leu) | |
14 | g.90404508_90404510delinsGAA | CA2579770683 | CALM1 | c.415_417delinsGAA (p.Tyr139Glu) c.307_309delinsGAA (p.Tyr103Glu) c.418_420delinsGAA (p.Tyr140Glu) c.287_289delinsGAA (n.287_289delinsGAA) c.*56_*58delinsGAA (n.*56_*58delinsGAA) n.2545_2547delinsGAA n.467_469delinsGAA n.341_343delinsGAA c.217_219delinsGAA (p.Tyr73Glu) | |
14 | g.90404508_90404510delinsGAC | CA2579770464 | CALM1 | c.415_417delinsGAC (p.Tyr139Asp) c.307_309delinsGAC (p.Tyr103Asp) c.418_420delinsGAC (p.Tyr140Asp) c.287_289delinsGAC (n.287_289delinsGAC) c.*56_*58delinsGAC (n.*56_*58delinsGAC) n.2545_2547delinsGAC n.467_469delinsGAC n.341_343delinsGAC c.217_219delinsGAC (p.Tyr73Asp) | |
14 | g.90404508_90404510delinsGAG | CA2579770857 | CALM1 | c.415_417delinsGAG (p.Tyr139Glu) c.307_309delinsGAG (p.Tyr103Glu) c.418_420delinsGAG (p.Tyr140Glu) c.287_289delinsGAG (n.287_289delinsGAG) c.*56_*58delinsGAG (n.*56_*58delinsGAG) n.2545_2547delinsGAG n.467_469delinsGAG n.341_343delinsGAG c.217_219delinsGAG (p.Tyr73Glu) | |
14 | g.90404508_90404510delinsGCC | CA2579770540 | CALM1 | c.415_417delinsGCC (p.Tyr139Ala) c.307_309delinsGCC (p.Tyr103Ala) c.418_420delinsGCC (p.Tyr140Ala) c.287_289delinsGCC (n.287_289delinsGCC) c.*56_*58delinsGCC (n.*56_*58delinsGCC) n.2545_2547delinsGCC n.467_469delinsGCC n.341_343delinsGCC c.217_219delinsGCC (p.Tyr73Ala) | |
14 | g.90404508_90404510delinsGGG | CA2579773794 | CALM1 | c.415_417delinsGGG (p.Tyr139Gly) c.307_309delinsGGG (p.Tyr103Gly) c.418_420delinsGGG (p.Tyr140Gly) c.287_289delinsGGG (n.287_289delinsGGG) c.*56_*58delinsGGG (n.*56_*58delinsGGG) n.2545_2547delinsGGG n.467_469delinsGGG n.341_343delinsGGG c.217_219delinsGGG (p.Tyr73Gly) | |
14 | g.90404508_90404510delinsGTG | CA2579772843 | CALM1 | c.415_417delinsGTG (p.Tyr139Val) c.307_309delinsGTG (p.Tyr103Val) c.418_420delinsGTG (p.Tyr140Val) c.287_289delinsGTG (n.287_289delinsGTG) c.*56_*58delinsGTG (n.*56_*58delinsGTG) n.2545_2547delinsGTG n.467_469delinsGTG n.341_343delinsGTG c.217_219delinsGTG (p.Tyr73Val) | |
14 | g.90404509A>C | CA390690407 | CALM1 | c.416A>C (p.Tyr139Ser) c.308A>C (p.Tyr103Ser) c.419A>C (p.Tyr140Ser) c.288A>C (n.288A>C) c.*57A>C (n.*57A>C) n.2546A>C n.468A>C n.342A>C c.218A>C (p.Tyr73Ser) | |
14 | g.90404509A>G | CA390690405 | CALM1 | c.416A>G (p.Tyr139Cys) c.308A>G (p.Tyr103Cys) c.419A>G (p.Tyr140Cys) c.288A>G (n.288A>G) c.*57A>G (n.*57A>G) n.2546A>G n.468A>G n.342A>G c.218A>G (p.Tyr73Cys) | |
14 | g.90404509A>T | CA390690406 | CALM1 | c.416A>T (p.Tyr139Phe) c.308A>T (p.Tyr103Phe) c.419A>T (p.Tyr140Phe) c.288A>T (n.288A>T) c.*57A>T (n.*57A>T) n.2546A>T n.468A>T n.342A>T c.218A>T (p.Tyr73Phe) | |
14 | g.90404509_90404510delinsCC | CA2579771743 | CALM1 | c.416_417delinsCC (p.Tyr139Ser) c.308_309delinsCC (p.Tyr103Ser) c.419_420delinsCC (p.Tyr140Ser) c.288_289delinsCC (n.288_289delinsCC) c.*57_*58delinsCC (n.*57_*58delinsCC) n.2546_2547delinsCC n.468_469delinsCC n.342_343delinsCC c.218_219delinsCC (p.Tyr73Ser) | |
14 | g.90404509_90404510delinsCG | CA2579773480 | CALM1 | c.416_417delinsCG (p.Tyr139Ser) c.308_309delinsCG (p.Tyr103Ser) c.419_420delinsCG (p.Tyr140Ser) c.288_289delinsCG (n.288_289delinsCG) c.*57_*58delinsCG (n.*57_*58delinsCG) n.2546_2547delinsCG n.468_469delinsCG n.342_343delinsCG c.218_219delinsCG (p.Tyr73Ser) | |
14 | g.90404509_90404510delinsGC | CA2579773882 | CALM1 | c.416_417delinsGC (p.Tyr139Cys) c.308_309delinsGC (p.Tyr103Cys) c.419_420delinsGC (p.Tyr140Cys) c.288_289delinsGC (n.288_289delinsGC) c.*57_*58delinsGC (n.*57_*58delinsGC) n.2546_2547delinsGC n.468_469delinsGC n.342_343delinsGC c.218_219delinsGC (p.Tyr73Cys) | |
14 | g.90404509_90404510delinsGG | CA2579772173 | CALM1 | c.416_417delinsGG (p.Tyr139Trp) c.308_309delinsGG (p.Tyr103Trp) c.419_420delinsGG (p.Tyr140Trp) c.288_289delinsGG (n.288_289delinsGG) c.*57_*58delinsGG (n.*57_*58delinsGG) n.2546_2547delinsGG n.468_469delinsGG n.342_343delinsGG c.218_219delinsGG (p.Tyr73Trp) | |
14 | g.90404509_90404510delinsTC | CA2579769905 | CALM1 | c.416_417delinsTC (p.Tyr139Phe) c.308_309delinsTC (p.Tyr103Phe) c.419_420delinsTC (p.Tyr140Phe) c.288_289delinsTC (n.288_289delinsTC) c.*57_*58delinsTC (n.*57_*58delinsTC) n.2546_2547delinsTC n.468_469delinsTC n.342_343delinsTC c.218_219delinsTC (p.Tyr73Phe) | |
14 | g.90404509_90404510delinsTG | CA2579770699 | CALM1 | c.416_417delinsTG (p.Tyr139Leu) c.308_309delinsTG (p.Tyr103Leu) c.419_420delinsTG (p.Tyr140Leu) c.288_289delinsTG (n.288_289delinsTG) c.*57_*58delinsTG (n.*57_*58delinsTG) n.2546_2547delinsTG n.468_469delinsTG n.342_343delinsTG c.218_219delinsTG (p.Tyr73Leu) |