Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.128632269_128632310dup | CA2573143910 | SPTAN1 | c.6941_6982dup (p.Gln2327_Gln2328insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6968_7009dup (p.Gln2336_Gln2337insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6992_7033dup (p.Gln2344_Gln2345insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6431_6472dup (p.Gln2157_Gln2158insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.4510_4551dup c.2847_2888dup c.6905_6946dup (p.Gln2315_Gln2316insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) n.629_670dup c.6830_6871dup (p.Gln2290_Gln2291insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6890_6931dup (p.Gln2310_Gln2311insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) n.859_900dup n.662_703dup c.6845_6886dup (p.Gln2295_Gln2296insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.7004_7045dup (p.Gln2348_Gln2349insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6989_7030dup (p.Gln2343_Gln2344insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6944_6985dup (p.Gln2328_Gln2329insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6926_6967dup (p.Gln2322_Gln2323insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6923_6964dup (p.Gln2321_Gln2322insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6908_6949dup (p.Gln2316_Gln2317insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6881_6922dup (p.Gln2307_Gln2308insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6866_6907dup (p.Gln2302_Gln2303insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6887_6928dup (p.Gln2309_Gln2310insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) c.6863_6904dup (p.Gln2301_Gln2302insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln) | ClinVar dbSNP |
9 | g.128632274_128632282dup | CA318767 | SPTAN1 | c.6946_6954dup (p.Gly2318_Met2319insGlnLeuGly) c.6973_6981dup (p.Gly2327_Met2328insGlnLeuGly) c.6997_7005dup (p.Gly2335_Met2336insGlnLeuGly) c.6436_6444dup (p.Gly2148_Met2149insGlnLeuGly) c.4515_4523dup c.2852_2860dup c.6910_6918dup (p.Gly2306_Met2307insGlnLeuGly) n.634_642dup c.6835_6843dup (p.Gly2281_Met2282insGlnLeuGly) c.6895_6903dup (p.Gly2301_Met2302insGlnLeuGly) n.864_872dup n.667_675dup c.6850_6858dup (p.Gly2286_Met2287insGlnLeuGly) c.7009_7017dup (p.Gly2339_Met2340insGlnLeuGly) c.6994_7002dup (p.Gly2334_Met2335insGlnLeuGly) c.6949_6957dup (p.Gly2319_Met2320insGlnLeuGly) c.6931_6939dup (p.Gly2313_Met2314insGlnLeuGly) c.6928_6936dup (p.Gly2312_Met2313insGlnLeuGly) c.6913_6921dup (p.Gly2307_Met2308insGlnLeuGly) c.6886_6894dup (p.Gly2298_Met2299insGlnLeuGly) c.6871_6879dup (p.Gly2293_Met2294insGlnLeuGly) c.6892_6900dup (p.Gly2300_Met2301insGlnLeuGly) c.6868_6876dup (p.Gly2292_Met2293insGlnLeuGly) | ClinVar dbSNP |
9 | g.128632274_128632282del | CA913184752 | SPTAN1 | c.6946_6954del (p.Gln2316_Gly2318del) c.6973_6981del (p.Gln2325_Gly2327del) c.6997_7005del (p.Gln2333_Gly2335del) c.6436_6444del (p.Gln2146_Gly2148del) c.4515_4523del c.2852_2860del c.6910_6918del (p.Gln2304_Gly2306del) n.634_642del c.6835_6843del (p.Gln2279_Gly2281del) c.6895_6903del (p.Gln2299_Gly2301del) n.864_872del n.667_675del c.6850_6858del (p.Gln2284_Gly2286del) c.7009_7017del (p.Gln2337_Gly2339del) c.6994_7002del (p.Gln2332_Gly2334del) c.6949_6957del (p.Gln2317_Gly2319del) c.6931_6939del (p.Gln2311_Gly2313del) c.6928_6936del (p.Gln2310_Gly2312del) c.6913_6921del (p.Gln2305_Gly2307del) c.6886_6894del (p.Gln2296_Gly2298del) c.6871_6879del (p.Gln2291_Gly2293del) c.6892_6900del (p.Gln2298_Gly2300del) c.6868_6876del (p.Gln2290_Gly2292del) | ClinVar dbSNP |
9 | g.128632281G>A | CA375098769 | SPTAN1 | c.6953G>A (p.Gly2318Asp) c.6980G>A (p.Gly2327Asp) c.7004G>A (p.Gly2335Asp) c.6443G>A (p.Gly2148Asp) c.4522G>A c.2859G>A c.6917G>A (p.Gly2306Asp) n.641G>A c.6842G>A (p.Gly2281Asp) c.6902G>A (p.Gly2301Asp) n.871G>A n.674G>A c.6857G>A (p.Gly2286Asp) c.7016G>A (p.Gly2339Asp) c.7001G>A (p.Gly2334Asp) c.6956G>A (p.Gly2319Asp) c.6938G>A (p.Gly2313Asp) c.6935G>A (p.Gly2312Asp) c.6920G>A (p.Gly2307Asp) c.6893G>A (p.Gly2298Asp) c.6878G>A (p.Gly2293Asp) c.6899G>A (p.Gly2300Asp) c.6875G>A (p.Gly2292Asp) | |
9 | g.128632281G>C | CA375098782 | SPTAN1 | c.6953G>C (p.Gly2318Ala) c.6980G>C (p.Gly2327Ala) c.7004G>C (p.Gly2335Ala) c.6443G>C (p.Gly2148Ala) c.4522G>C c.2859G>C c.6917G>C (p.Gly2306Ala) n.641G>C c.6842G>C (p.Gly2281Ala) c.6902G>C (p.Gly2301Ala) n.871G>C n.674G>C c.6857G>C (p.Gly2286Ala) c.7016G>C (p.Gly2339Ala) c.7001G>C (p.Gly2334Ala) c.6956G>C (p.Gly2319Ala) c.6938G>C (p.Gly2313Ala) c.6935G>C (p.Gly2312Ala) c.6920G>C (p.Gly2307Ala) c.6893G>C (p.Gly2298Ala) c.6878G>C (p.Gly2293Ala) c.6899G>C (p.Gly2300Ala) c.6875G>C (p.Gly2292Ala) | |
9 | g.128632281G>T | CA375098777 | SPTAN1 | c.6953G>T (p.Gly2318Val) c.6980G>T (p.Gly2327Val) c.7004G>T (p.Gly2335Val) c.6443G>T (p.Gly2148Val) c.4522G>T c.2859G>T c.6917G>T (p.Gly2306Val) n.641G>T c.6842G>T (p.Gly2281Val) c.6902G>T (p.Gly2301Val) n.871G>T n.674G>T c.6857G>T (p.Gly2286Val) c.7016G>T (p.Gly2339Val) c.7001G>T (p.Gly2334Val) c.6956G>T (p.Gly2319Val) c.6938G>T (p.Gly2313Val) c.6935G>T (p.Gly2312Val) c.6920G>T (p.Gly2307Val) c.6893G>T (p.Gly2298Val) c.6878G>T (p.Gly2293Val) c.6899G>T (p.Gly2300Val) c.6875G>T (p.Gly2292Val) | |
9 | g.128632287_128632292dup | CA318769 | SPTAN1 | c.6959_6964dup (p.Met2321_Gln2322insArgMet) c.6986_6991dup (p.Met2330_Gln2331insArgMet) c.7010_7015dup (p.Met2338_Gln2339insArgMet) c.6449_6454dup (p.Met2151_Gln2152insArgMet) c.4528_4533dup c.2865_2870dup c.6923_6928dup (p.Met2309_Gln2310insArgMet) n.647_652dup c.6848_6853dup (p.Met2284_Gln2285insArgMet) c.6908_6913dup (p.Met2304_Gln2305insArgMet) n.877_882dup n.680_685dup c.6863_6868dup (p.Met2289_Gln2290insArgMet) c.7022_7027dup (p.Met2342_Gln2343insArgMet) c.7007_7012dup (p.Met2337_Gln2338insArgMet) c.6962_6967dup (p.Met2322_Gln2323insArgMet) c.6944_6949dup (p.Met2316_Gln2317insArgMet) c.6941_6946dup (p.Met2315_Gln2316insArgMet) c.6926_6931dup (p.Met2310_Gln2311insArgMet) c.6899_6904dup (p.Met2301_Gln2302insArgMet) c.6884_6889dup (p.Met2296_Gln2297insArgMet) c.6905_6910dup (p.Met2303_Gln2304insArgMet) c.6881_6886dup (p.Met2295_Gln2296insArgMet) | ClinVar dbSNP |
9 | g.128632282C>A | CA5265930 | SPTAN1 | c.6954C>A (p.Gly2318=) c.6981C>A (p.Gly2327=) c.7005C>A (p.Gly2335=) c.6444C>A (p.Gly2148=) c.4523C>A c.2860C>A c.6918C>A (p.Gly2306=) n.642C>A c.6843C>A (p.Gly2281=) c.6903C>A (p.Gly2301=) n.872C>A n.675C>A c.6858C>A (p.Gly2286=) c.7017C>A (p.Gly2339=) c.7002C>A (p.Gly2334=) c.6957C>A (p.Gly2319=) c.6939C>A (p.Gly2313=) c.6936C>A (p.Gly2312=) c.6921C>A (p.Gly2307=) c.6894C>A (p.Gly2298=) c.6879C>A (p.Gly2293=) c.6900C>A (p.Gly2300=) c.6876C>A (p.Gly2292=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632282C= | CA1880371270 | SPTAN1 | c.6954C= (p.Gly2318=) c.6981C= (p.Gly2327=) c.7005C= (p.Gly2335=) c.6444C= (p.Gly2148=) c.4523C= c.2860C= c.6918C= (p.Gly2306=) n.642C= c.6843C= (p.Gly2281=) c.6903C= (p.Gly2301=) n.872C= n.675C= c.6858C= (p.Gly2286=) c.7017C= (p.Gly2339=) c.7002C= (p.Gly2334=) c.6957C= (p.Gly2319=) c.6939C= (p.Gly2313=) c.6936C= (p.Gly2312=) c.6921C= (p.Gly2307=) c.6894C= (p.Gly2298=) c.6879C= (p.Gly2293=) c.6900C= (p.Gly2300=) c.6876C= (p.Gly2292=) | |
9 | g.128632282C>G | CA467304859 | SPTAN1 | c.6954C>G (p.Gly2318=) c.6981C>G (p.Gly2327=) c.7005C>G (p.Gly2335=) c.6444C>G (p.Gly2148=) c.4523C>G c.2860C>G c.6918C>G (p.Gly2306=) n.642C>G c.6843C>G (p.Gly2281=) c.6903C>G (p.Gly2301=) n.872C>G n.675C>G c.6858C>G (p.Gly2286=) c.7017C>G (p.Gly2339=) c.7002C>G (p.Gly2334=) c.6957C>G (p.Gly2319=) c.6939C>G (p.Gly2313=) c.6936C>G (p.Gly2312=) c.6921C>G (p.Gly2307=) c.6894C>G (p.Gly2298=) c.6879C>G (p.Gly2293=) c.6900C>G (p.Gly2300=) c.6876C>G (p.Gly2292=) | |
9 | g.128632282C>T | CA467304860 | SPTAN1 | c.6954C>T (p.Gly2318=) c.6981C>T (p.Gly2327=) c.7005C>T (p.Gly2335=) c.6444C>T (p.Gly2148=) c.4523C>T c.2860C>T c.6918C>T (p.Gly2306=) n.642C>T c.6843C>T (p.Gly2281=) c.6903C>T (p.Gly2301=) n.872C>T n.675C>T c.6858C>T (p.Gly2286=) c.7017C>T (p.Gly2339=) c.7002C>T (p.Gly2334=) c.6957C>T (p.Gly2319=) c.6939C>T (p.Gly2313=) c.6936C>T (p.Gly2312=) c.6921C>T (p.Gly2307=) c.6894C>T (p.Gly2298=) c.6879C>T (p.Gly2293=) c.6900C>T (p.Gly2300=) c.6876C>T (p.Gly2292=) | dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.128632283A>C | CA375098788 | SPTAN1 | c.6955A>C (p.Met2319Leu) c.6982A>C (p.Met2328Leu) c.7006A>C (p.Met2336Leu) c.6445A>C (p.Met2149Leu) c.4524A>C c.2861A>C c.6919A>C (p.Met2307Leu) n.643A>C c.6844A>C (p.Met2282Leu) c.6904A>C (p.Met2302Leu) n.873A>C n.676A>C c.6859A>C (p.Met2287Leu) c.7018A>C (p.Met2340Leu) c.7003A>C (p.Met2335Leu) c.6958A>C (p.Met2320Leu) c.6940A>C (p.Met2314Leu) c.6937A>C (p.Met2313Leu) c.6922A>C (p.Met2308Leu) c.6895A>C (p.Met2299Leu) c.6880A>C (p.Met2294Leu) c.6901A>C (p.Met2301Leu) c.6877A>C (p.Met2293Leu) | |
9 | g.128632283A>G | CA375098796 | SPTAN1 | c.6955A>G (p.Met2319Val) c.6982A>G (p.Met2328Val) c.7006A>G (p.Met2336Val) c.6445A>G (p.Met2149Val) c.4524A>G c.2861A>G c.6919A>G (p.Met2307Val) n.643A>G c.6844A>G (p.Met2282Val) c.6904A>G (p.Met2302Val) n.873A>G n.676A>G c.6859A>G (p.Met2287Val) c.7018A>G (p.Met2340Val) c.7003A>G (p.Met2335Val) c.6958A>G (p.Met2320Val) c.6940A>G (p.Met2314Val) c.6937A>G (p.Met2313Val) c.6922A>G (p.Met2308Val) c.6895A>G (p.Met2299Val) c.6880A>G (p.Met2294Val) c.6901A>G (p.Met2301Val) c.6877A>G (p.Met2293Val) | |
9 | g.128632283A>T | CA375098800 | SPTAN1 | c.6955A>T (p.Met2319Leu) c.6982A>T (p.Met2328Leu) c.7006A>T (p.Met2336Leu) c.6445A>T (p.Met2149Leu) c.4524A>T c.2861A>T c.6919A>T (p.Met2307Leu) n.643A>T c.6844A>T (p.Met2282Leu) c.6904A>T (p.Met2302Leu) n.873A>T n.676A>T c.6859A>T (p.Met2287Leu) c.7018A>T (p.Met2340Leu) c.7003A>T (p.Met2335Leu) c.6958A>T (p.Met2320Leu) c.6940A>T (p.Met2314Leu) c.6937A>T (p.Met2313Leu) c.6922A>T (p.Met2308Leu) c.6895A>T (p.Met2299Leu) c.6880A>T (p.Met2294Leu) c.6901A>T (p.Met2301Leu) c.6877A>T (p.Met2293Leu) | |
9 | g.128632284T>A | CA375098804 | SPTAN1 | c.6956T>A (p.Met2319Lys) c.6983T>A (p.Met2328Lys) c.7007T>A (p.Met2336Lys) c.6446T>A (p.Met2149Lys) c.4525T>A c.2862T>A c.6920T>A (p.Met2307Lys) n.644T>A c.6845T>A (p.Met2282Lys) c.6905T>A (p.Met2302Lys) n.874T>A n.677T>A c.6860T>A (p.Met2287Lys) c.7019T>A (p.Met2340Lys) c.7004T>A (p.Met2335Lys) c.6959T>A (p.Met2320Lys) c.6941T>A (p.Met2314Lys) c.6938T>A (p.Met2313Lys) c.6923T>A (p.Met2308Lys) c.6896T>A (p.Met2299Lys) c.6881T>A (p.Met2294Lys) c.6902T>A (p.Met2301Lys) c.6878T>A (p.Met2293Lys) | |
9 | g.128632284T>C | CA375098806 | SPTAN1 | c.6956T>C (p.Met2319Thr) c.6983T>C (p.Met2328Thr) c.7007T>C (p.Met2336Thr) c.6446T>C (p.Met2149Thr) c.4525T>C c.2862T>C c.6920T>C (p.Met2307Thr) n.644T>C c.6845T>C (p.Met2282Thr) c.6905T>C (p.Met2302Thr) n.874T>C n.677T>C c.6860T>C (p.Met2287Thr) c.7019T>C (p.Met2340Thr) c.7004T>C (p.Met2335Thr) c.6959T>C (p.Met2320Thr) c.6941T>C (p.Met2314Thr) c.6938T>C (p.Met2313Thr) c.6923T>C (p.Met2308Thr) c.6896T>C (p.Met2299Thr) c.6881T>C (p.Met2294Thr) c.6902T>C (p.Met2301Thr) c.6878T>C (p.Met2293Thr) | |
9 | g.128632284T>G | CA375098810 | SPTAN1 | c.6956T>G (p.Met2319Arg) c.6983T>G (p.Met2328Arg) c.7007T>G (p.Met2336Arg) c.6446T>G (p.Met2149Arg) c.4525T>G c.2862T>G c.6920T>G (p.Met2307Arg) n.644T>G c.6845T>G (p.Met2282Arg) c.6905T>G (p.Met2302Arg) n.874T>G n.677T>G c.6860T>G (p.Met2287Arg) c.7019T>G (p.Met2340Arg) c.7004T>G (p.Met2335Arg) c.6959T>G (p.Met2320Arg) c.6941T>G (p.Met2314Arg) c.6938T>G (p.Met2313Arg) c.6923T>G (p.Met2308Arg) c.6896T>G (p.Met2299Arg) c.6881T>G (p.Met2294Arg) c.6902T>G (p.Met2301Arg) c.6878T>G (p.Met2293Arg) | |
9 | g.128632285G>A | CA375098813 | SPTAN1 | c.6957G>A (p.Met2319Ile) c.6984G>A (p.Met2328Ile) c.7008G>A (p.Met2336Ile) c.6447G>A (p.Met2149Ile) c.4526G>A c.2863G>A c.6921G>A (p.Met2307Ile) n.645G>A c.6846G>A (p.Met2282Ile) c.6906G>A (p.Met2302Ile) n.875G>A n.678G>A c.6861G>A (p.Met2287Ile) c.7020G>A (p.Met2340Ile) c.7005G>A (p.Met2335Ile) c.6960G>A (p.Met2320Ile) c.6942G>A (p.Met2314Ile) c.6939G>A (p.Met2313Ile) c.6924G>A (p.Met2308Ile) c.6897G>A (p.Met2299Ile) c.6882G>A (p.Met2294Ile) c.6903G>A (p.Met2301Ile) c.6879G>A (p.Met2293Ile) | |
9 | g.128632285G>C | CA375098814 | SPTAN1 | c.6957G>C (p.Met2319Ile) c.6984G>C (p.Met2328Ile) c.7008G>C (p.Met2336Ile) c.6447G>C (p.Met2149Ile) c.4526G>C c.2863G>C c.6921G>C (p.Met2307Ile) n.645G>C c.6846G>C (p.Met2282Ile) c.6906G>C (p.Met2302Ile) n.875G>C n.678G>C c.6861G>C (p.Met2287Ile) c.7020G>C (p.Met2340Ile) c.7005G>C (p.Met2335Ile) c.6960G>C (p.Met2320Ile) c.6942G>C (p.Met2314Ile) c.6939G>C (p.Met2313Ile) c.6924G>C (p.Met2308Ile) c.6897G>C (p.Met2299Ile) c.6882G>C (p.Met2294Ile) c.6903G>C (p.Met2301Ile) c.6879G>C (p.Met2293Ile) | |
9 | g.128632285G>T | CA375098815 | SPTAN1 | c.6957G>T (p.Met2319Ile) c.6984G>T (p.Met2328Ile) c.7008G>T (p.Met2336Ile) c.6447G>T (p.Met2149Ile) c.4526G>T c.2863G>T c.6921G>T (p.Met2307Ile) n.645G>T c.6846G>T (p.Met2282Ile) c.6906G>T (p.Met2302Ile) n.875G>T n.678G>T c.6861G>T (p.Met2287Ile) c.7020G>T (p.Met2340Ile) c.7005G>T (p.Met2335Ile) c.6960G>T (p.Met2320Ile) c.6942G>T (p.Met2314Ile) c.6939G>T (p.Met2313Ile) c.6924G>T (p.Met2308Ile) c.6897G>T (p.Met2299Ile) c.6882G>T (p.Met2294Ile) c.6903G>T (p.Met2301Ile) c.6879G>T (p.Met2293Ile) | |
9 | g.128632286C>A | CA375098822 | SPTAN1 | c.6958C>A (p.Arg2320Ser) c.6985C>A (p.Arg2329Ser) c.7009C>A (p.Arg2337Ser) c.6448C>A (p.Arg2150Ser) c.4527C>A c.2864C>A c.6922C>A (p.Arg2308Ser) n.646C>A c.6847C>A (p.Arg2283Ser) c.6907C>A (p.Arg2303Ser) n.876C>A n.679C>A c.6862C>A (p.Arg2288Ser) c.7021C>A (p.Arg2341Ser) c.7006C>A (p.Arg2336Ser) c.6961C>A (p.Arg2321Ser) c.6943C>A (p.Arg2315Ser) c.6940C>A (p.Arg2314Ser) c.6925C>A (p.Arg2309Ser) c.6898C>A (p.Arg2300Ser) c.6883C>A (p.Arg2295Ser) c.6904C>A (p.Arg2302Ser) c.6880C>A (p.Arg2294Ser) | |
9 | g.128632286C= | CA1880371271 | SPTAN1 | c.6958C= (p.Arg2320=) c.6985C= (p.Arg2329=) c.7009C= (p.Arg2337=) c.6448C= (p.Arg2150=) c.4527C= c.2864C= c.6922C= (p.Arg2308=) n.646C= c.6847C= (p.Arg2283=) c.6907C= (p.Arg2303=) n.876C= n.679C= c.6862C= (p.Arg2288=) c.7021C= (p.Arg2341=) c.7006C= (p.Arg2336=) c.6961C= (p.Arg2321=) c.6943C= (p.Arg2315=) c.6940C= (p.Arg2314=) c.6925C= (p.Arg2309=) c.6898C= (p.Arg2300=) c.6883C= (p.Arg2295=) c.6904C= (p.Arg2302=) c.6880C= (p.Arg2294=) | |
9 | g.128632286C>G | CA375098830 | SPTAN1 | c.6958C>G (p.Arg2320Gly) c.6985C>G (p.Arg2329Gly) c.7009C>G (p.Arg2337Gly) c.6448C>G (p.Arg2150Gly) c.4527C>G c.2864C>G c.6922C>G (p.Arg2308Gly) n.646C>G c.6847C>G (p.Arg2283Gly) c.6907C>G (p.Arg2303Gly) n.876C>G n.679C>G c.6862C>G (p.Arg2288Gly) c.7021C>G (p.Arg2341Gly) c.7006C>G (p.Arg2336Gly) c.6961C>G (p.Arg2321Gly) c.6943C>G (p.Arg2315Gly) c.6940C>G (p.Arg2314Gly) c.6925C>G (p.Arg2309Gly) c.6898C>G (p.Arg2300Gly) c.6883C>G (p.Arg2295Gly) c.6904C>G (p.Arg2302Gly) c.6880C>G (p.Arg2294Gly) | |
9 | g.128632286C>T | CA318749 | SPTAN1 | c.6958C>T (p.Arg2320Cys) c.6985C>T (p.Arg2329Cys) c.7009C>T (p.Arg2337Cys) c.6448C>T (p.Arg2150Cys) c.4527C>T c.2864C>T c.6922C>T (p.Arg2308Cys) n.646C>T c.6847C>T (p.Arg2283Cys) c.6907C>T (p.Arg2303Cys) n.876C>T n.679C>T c.6862C>T (p.Arg2288Cys) c.7021C>T (p.Arg2341Cys) c.7006C>T (p.Arg2336Cys) c.6961C>T (p.Arg2321Cys) c.6943C>T (p.Arg2315Cys) c.6940C>T (p.Arg2314Cys) c.6925C>T (p.Arg2309Cys) c.6898C>T (p.Arg2300Cys) c.6883C>T (p.Arg2295Cys) c.6904C>T (p.Arg2302Cys) c.6880C>T (p.Arg2294Cys) | ClinVar dbSNP |
9 | g.128632287G>A | CA200412533 | SPTAN1 | c.6959G>A (p.Arg2320His) c.6986G>A (p.Arg2329His) c.7010G>A (p.Arg2337His) c.6449G>A (p.Arg2150His) c.4528G>A c.2865G>A c.6923G>A (p.Arg2308His) n.647G>A c.6848G>A (p.Arg2283His) c.6908G>A (p.Arg2303His) n.877G>A n.680G>A c.6863G>A (p.Arg2288His) c.7022G>A (p.Arg2341His) c.7007G>A (p.Arg2336His) c.6962G>A (p.Arg2321His) c.6944G>A (p.Arg2315His) c.6941G>A (p.Arg2314His) c.6926G>A (p.Arg2309His) c.6899G>A (p.Arg2300His) c.6884G>A (p.Arg2295His) c.6905G>A (p.Arg2302His) c.6881G>A (p.Arg2294His) | dbSNP COSMIC COSMIC |
9 | g.128632287G>C | CA375098833 | SPTAN1 | c.6959G>C (p.Arg2320Pro) c.6986G>C (p.Arg2329Pro) c.7010G>C (p.Arg2337Pro) c.6449G>C (p.Arg2150Pro) c.4528G>C c.2865G>C c.6923G>C (p.Arg2308Pro) n.647G>C c.6848G>C (p.Arg2283Pro) c.6908G>C (p.Arg2303Pro) n.877G>C n.680G>C c.6863G>C (p.Arg2288Pro) c.7022G>C (p.Arg2341Pro) c.7007G>C (p.Arg2336Pro) c.6962G>C (p.Arg2321Pro) c.6944G>C (p.Arg2315Pro) c.6941G>C (p.Arg2314Pro) c.6926G>C (p.Arg2309Pro) c.6899G>C (p.Arg2300Pro) c.6884G>C (p.Arg2295Pro) c.6905G>C (p.Arg2302Pro) c.6881G>C (p.Arg2294Pro) | |
9 | g.128632287G= | CA1880371272 | SPTAN1 | c.6959G= (p.Arg2320=) c.6986G= (p.Arg2329=) c.7010G= (p.Arg2337=) c.6449G= (p.Arg2150=) c.4528G= c.2865G= c.6923G= (p.Arg2308=) n.647G= c.6848G= (p.Arg2283=) c.6908G= (p.Arg2303=) n.877G= n.680G= c.6863G= (p.Arg2288=) c.7022G= (p.Arg2341=) c.7007G= (p.Arg2336=) c.6962G= (p.Arg2321=) c.6944G= (p.Arg2315=) c.6941G= (p.Arg2314=) c.6926G= (p.Arg2309=) c.6899G= (p.Arg2300=) c.6884G= (p.Arg2295=) c.6905G= (p.Arg2302=) c.6881G= (p.Arg2294=) | |
9 | g.128632287G>T | CA375098835 | SPTAN1 | c.6959G>T (p.Arg2320Leu) c.6986G>T (p.Arg2329Leu) c.7010G>T (p.Arg2337Leu) c.6449G>T (p.Arg2150Leu) c.4528G>T c.2865G>T c.6923G>T (p.Arg2308Leu) n.647G>T c.6848G>T (p.Arg2283Leu) c.6908G>T (p.Arg2303Leu) n.877G>T n.680G>T c.6863G>T (p.Arg2288Leu) c.7022G>T (p.Arg2341Leu) c.7007G>T (p.Arg2336Leu) c.6962G>T (p.Arg2321Leu) c.6944G>T (p.Arg2315Leu) c.6941G>T (p.Arg2314Leu) c.6926G>T (p.Arg2309Leu) c.6899G>T (p.Arg2300Leu) c.6884G>T (p.Arg2295Leu) c.6905G>T (p.Arg2302Leu) c.6881G>T (p.Arg2294Leu) | |
9 | g.128632288C>A | CA467304863 | SPTAN1 | c.6960C>A (p.Arg2320=) c.6987C>A (p.Arg2329=) c.7011C>A (p.Arg2337=) c.6450C>A (p.Arg2150=) c.4529C>A c.2866C>A c.6924C>A (p.Arg2308=) n.648C>A c.6849C>A (p.Arg2283=) c.6909C>A (p.Arg2303=) n.878C>A n.681C>A c.6864C>A (p.Arg2288=) c.7023C>A (p.Arg2341=) c.7008C>A (p.Arg2336=) c.6963C>A (p.Arg2321=) c.6945C>A (p.Arg2315=) c.6942C>A (p.Arg2314=) c.6927C>A (p.Arg2309=) c.6900C>A (p.Arg2300=) c.6885C>A (p.Arg2295=) c.6906C>A (p.Arg2302=) c.6882C>A (p.Arg2294=) | |
9 | g.128632288C>G | CA467304861 | SPTAN1 | c.6960C>G (p.Arg2320=) c.6987C>G (p.Arg2329=) c.7011C>G (p.Arg2337=) c.6450C>G (p.Arg2150=) c.4529C>G c.2866C>G c.6924C>G (p.Arg2308=) n.648C>G c.6849C>G (p.Arg2283=) c.6909C>G (p.Arg2303=) n.878C>G n.681C>G c.6864C>G (p.Arg2288=) c.7023C>G (p.Arg2341=) c.7008C>G (p.Arg2336=) c.6963C>G (p.Arg2321=) c.6945C>G (p.Arg2315=) c.6942C>G (p.Arg2314=) c.6927C>G (p.Arg2309=) c.6900C>G (p.Arg2300=) c.6885C>G (p.Arg2295=) c.6906C>G (p.Arg2302=) c.6882C>G (p.Arg2294=) | |
9 | g.128632288C>T | CA467304862 | SPTAN1 | c.6960C>T (p.Arg2320=) c.6987C>T (p.Arg2329=) c.7011C>T (p.Arg2337=) c.6450C>T (p.Arg2150=) c.4529C>T c.2866C>T c.6924C>T (p.Arg2308=) n.648C>T c.6849C>T (p.Arg2283=) c.6909C>T (p.Arg2303=) n.878C>T n.681C>T c.6864C>T (p.Arg2288=) c.7023C>T (p.Arg2341=) c.7008C>T (p.Arg2336=) c.6963C>T (p.Arg2321=) c.6945C>T (p.Arg2315=) c.6942C>T (p.Arg2314=) c.6927C>T (p.Arg2309=) c.6900C>T (p.Arg2300=) c.6885C>T (p.Arg2295=) c.6906C>T (p.Arg2302=) c.6882C>T (p.Arg2294=) | gnomAD v4 |
9 | g.128632288_128632293dup | CA2580079753 | SPTAN1 | c.6960_6965dup (p.Met2321_Gln2322insHisMet) c.6987_6992dup (p.Met2330_Gln2331insHisMet) c.7011_7016dup (p.Met2338_Gln2339insHisMet) c.6450_6455dup (p.Met2151_Gln2152insHisMet) c.4529_4534dup c.2866_2871dup c.6924_6929dup (p.Met2309_Gln2310insHisMet) n.648_653dup c.6849_6854dup (p.Met2284_Gln2285insHisMet) c.6909_6914dup (p.Met2304_Gln2305insHisMet) n.878_883dup n.681_686dup c.6864_6869dup (p.Met2289_Gln2290insHisMet) c.7023_7028dup (p.Met2342_Gln2343insHisMet) c.7008_7013dup (p.Met2337_Gln2338insHisMet) c.6963_6968dup (p.Met2322_Gln2323insHisMet) c.6945_6950dup (p.Met2316_Gln2317insHisMet) c.6942_6947dup (p.Met2315_Gln2316insHisMet) c.6927_6932dup (p.Met2310_Gln2311insHisMet) c.6900_6905dup (p.Met2301_Gln2302insHisMet) c.6885_6890dup (p.Met2296_Gln2297insHisMet) c.6906_6911dup (p.Met2303_Gln2304insHisMet) c.6882_6887dup (p.Met2295_Gln2296insHisMet) | ClinVar |
9 | g.128632289A>C | CA375098838 | SPTAN1 | c.6961A>C (p.Met2321Leu) c.6988A>C (p.Met2330Leu) c.7012A>C (p.Met2338Leu) c.6451A>C (p.Met2151Leu) c.4530A>C c.2867A>C c.6925A>C (p.Met2309Leu) n.649A>C c.6850A>C (p.Met2284Leu) c.6910A>C (p.Met2304Leu) n.879A>C n.682A>C c.6865A>C (p.Met2289Leu) c.7024A>C (p.Met2342Leu) c.7009A>C (p.Met2337Leu) c.6964A>C (p.Met2322Leu) c.6946A>C (p.Met2316Leu) c.6943A>C (p.Met2315Leu) c.6928A>C (p.Met2310Leu) c.6901A>C (p.Met2301Leu) c.6886A>C (p.Met2296Leu) c.6907A>C (p.Met2303Leu) c.6883A>C (p.Met2295Leu) | |
9 | g.128632289A>G | CA375098844 | SPTAN1 | c.6961A>G (p.Met2321Val) c.6988A>G (p.Met2330Val) c.7012A>G (p.Met2338Val) c.6451A>G (p.Met2151Val) c.4530A>G c.2867A>G c.6925A>G (p.Met2309Val) n.649A>G c.6850A>G (p.Met2284Val) c.6910A>G (p.Met2304Val) n.879A>G n.682A>G c.6865A>G (p.Met2289Val) c.7024A>G (p.Met2342Val) c.7009A>G (p.Met2337Val) c.6964A>G (p.Met2322Val) c.6946A>G (p.Met2316Val) c.6943A>G (p.Met2315Val) c.6928A>G (p.Met2310Val) c.6901A>G (p.Met2301Val) c.6886A>G (p.Met2296Val) c.6907A>G (p.Met2303Val) c.6883A>G (p.Met2295Val) | |
9 | g.128632289A>T | CA375098852 | SPTAN1 | c.6961A>T (p.Met2321Leu) c.6988A>T (p.Met2330Leu) c.7012A>T (p.Met2338Leu) c.6451A>T (p.Met2151Leu) c.4530A>T c.2867A>T c.6925A>T (p.Met2309Leu) n.649A>T c.6850A>T (p.Met2284Leu) c.6910A>T (p.Met2304Leu) n.879A>T n.682A>T c.6865A>T (p.Met2289Leu) c.7024A>T (p.Met2342Leu) c.7009A>T (p.Met2337Leu) c.6964A>T (p.Met2322Leu) c.6946A>T (p.Met2316Leu) c.6943A>T (p.Met2315Leu) c.6928A>T (p.Met2310Leu) c.6901A>T (p.Met2301Leu) c.6886A>T (p.Met2296Leu) c.6907A>T (p.Met2303Leu) c.6883A>T (p.Met2295Leu) | |
9 | g.128632290T>A | CA375098862 | SPTAN1 | c.6962T>A (p.Met2321Lys) c.6989T>A (p.Met2330Lys) c.7013T>A (p.Met2338Lys) c.6452T>A (p.Met2151Lys) c.4531T>A c.2868T>A c.6926T>A (p.Met2309Lys) n.650T>A c.6851T>A (p.Met2284Lys) c.6911T>A (p.Met2304Lys) n.880T>A n.683T>A c.6866T>A (p.Met2289Lys) c.7025T>A (p.Met2342Lys) c.7010T>A (p.Met2337Lys) c.6965T>A (p.Met2322Lys) c.6947T>A (p.Met2316Lys) c.6944T>A (p.Met2315Lys) c.6929T>A (p.Met2310Lys) c.6902T>A (p.Met2301Lys) c.6887T>A (p.Met2296Lys) c.6908T>A (p.Met2303Lys) c.6884T>A (p.Met2295Lys) | |
9 | g.128632290T>C | CA375098866 | SPTAN1 | c.6962T>C (p.Met2321Thr) c.6989T>C (p.Met2330Thr) c.7013T>C (p.Met2338Thr) c.6452T>C (p.Met2151Thr) c.4531T>C c.2868T>C c.6926T>C (p.Met2309Thr) n.650T>C c.6851T>C (p.Met2284Thr) c.6911T>C (p.Met2304Thr) n.880T>C n.683T>C c.6866T>C (p.Met2289Thr) c.7025T>C (p.Met2342Thr) c.7010T>C (p.Met2337Thr) c.6965T>C (p.Met2322Thr) c.6947T>C (p.Met2316Thr) c.6944T>C (p.Met2315Thr) c.6929T>C (p.Met2310Thr) c.6902T>C (p.Met2301Thr) c.6887T>C (p.Met2296Thr) c.6908T>C (p.Met2303Thr) c.6884T>C (p.Met2295Thr) | |
9 | g.128632290T>G | CA375098869 | SPTAN1 | c.6962T>G (p.Met2321Arg) c.6989T>G (p.Met2330Arg) c.7013T>G (p.Met2338Arg) c.6452T>G (p.Met2151Arg) c.4531T>G c.2868T>G c.6926T>G (p.Met2309Arg) n.650T>G c.6851T>G (p.Met2284Arg) c.6911T>G (p.Met2304Arg) n.880T>G n.683T>G c.6866T>G (p.Met2289Arg) c.7025T>G (p.Met2342Arg) c.7010T>G (p.Met2337Arg) c.6965T>G (p.Met2322Arg) c.6947T>G (p.Met2316Arg) c.6944T>G (p.Met2315Arg) c.6929T>G (p.Met2310Arg) c.6902T>G (p.Met2301Arg) c.6887T>G (p.Met2296Arg) c.6908T>G (p.Met2303Arg) c.6884T>G (p.Met2295Arg) | |
9 | g.128632291G>A | CA375098870 | SPTAN1 | c.6963G>A (p.Met2321Ile) c.6990G>A (p.Met2330Ile) c.7014G>A (p.Met2338Ile) c.6453G>A (p.Met2151Ile) c.4532G>A c.2869G>A c.6927G>A (p.Met2309Ile) n.651G>A c.6852G>A (p.Met2284Ile) c.6912G>A (p.Met2304Ile) n.881G>A n.684G>A c.6867G>A (p.Met2289Ile) c.7026G>A (p.Met2342Ile) c.7011G>A (p.Met2337Ile) c.6966G>A (p.Met2322Ile) c.6948G>A (p.Met2316Ile) c.6945G>A (p.Met2315Ile) c.6930G>A (p.Met2310Ile) c.6903G>A (p.Met2301Ile) c.6888G>A (p.Met2296Ile) c.6909G>A (p.Met2303Ile) c.6885G>A (p.Met2295Ile) | |
9 | g.128632291G>C | CA375098871 | SPTAN1 | c.6963G>C (p.Met2321Ile) c.6990G>C (p.Met2330Ile) c.7014G>C (p.Met2338Ile) c.6453G>C (p.Met2151Ile) c.4532G>C c.2869G>C c.6927G>C (p.Met2309Ile) n.651G>C c.6852G>C (p.Met2284Ile) c.6912G>C (p.Met2304Ile) n.881G>C n.684G>C c.6867G>C (p.Met2289Ile) c.7026G>C (p.Met2342Ile) c.7011G>C (p.Met2337Ile) c.6966G>C (p.Met2322Ile) c.6948G>C (p.Met2316Ile) c.6945G>C (p.Met2315Ile) c.6930G>C (p.Met2310Ile) c.6903G>C (p.Met2301Ile) c.6888G>C (p.Met2296Ile) c.6909G>C (p.Met2303Ile) c.6885G>C (p.Met2295Ile) | |
9 | g.128632291G>T | CA375098872 | SPTAN1 | c.6963G>T (p.Met2321Ile) c.6990G>T (p.Met2330Ile) c.7014G>T (p.Met2338Ile) c.6453G>T (p.Met2151Ile) c.4532G>T c.2869G>T c.6927G>T (p.Met2309Ile) n.651G>T c.6852G>T (p.Met2284Ile) c.6912G>T (p.Met2304Ile) n.881G>T n.684G>T c.6867G>T (p.Met2289Ile) c.7026G>T (p.Met2342Ile) c.7011G>T (p.Met2337Ile) c.6966G>T (p.Met2322Ile) c.6948G>T (p.Met2316Ile) c.6945G>T (p.Met2315Ile) c.6930G>T (p.Met2310Ile) c.6903G>T (p.Met2301Ile) c.6888G>T (p.Met2296Ile) c.6909G>T (p.Met2303Ile) c.6885G>T (p.Met2295Ile) | |
9 | g.128632292C>A | CA375098877 | SPTAN1 | c.6964C>A (p.Gln2322Lys) c.6991C>A (p.Gln2331Lys) c.7015C>A (p.Gln2339Lys) c.6454C>A (p.Gln2152Lys) c.4533C>A c.2870C>A c.6928C>A (p.Gln2310Lys) n.652C>A c.6853C>A (p.Gln2285Lys) c.6913C>A (p.Gln2305Lys) n.882C>A n.685C>A c.6868C>A (p.Gln2290Lys) c.7027C>A (p.Gln2343Lys) c.7012C>A (p.Gln2338Lys) c.6967C>A (p.Gln2323Lys) c.6949C>A (p.Gln2317Lys) c.6946C>A (p.Gln2316Lys) c.6931C>A (p.Gln2311Lys) c.6904C>A (p.Gln2302Lys) c.6889C>A (p.Gln2297Lys) c.6910C>A (p.Gln2304Lys) c.6886C>A (p.Gln2296Lys) | |
9 | g.128632292C>G | CA375098874 | SPTAN1 | c.6964C>G (p.Gln2322Glu) c.6991C>G (p.Gln2331Glu) c.7015C>G (p.Gln2339Glu) c.6454C>G (p.Gln2152Glu) c.4533C>G c.2870C>G c.6928C>G (p.Gln2310Glu) n.652C>G c.6853C>G (p.Gln2285Glu) c.6913C>G (p.Gln2305Glu) n.882C>G n.685C>G c.6868C>G (p.Gln2290Glu) c.7027C>G (p.Gln2343Glu) c.7012C>G (p.Gln2338Glu) c.6967C>G (p.Gln2323Glu) c.6949C>G (p.Gln2317Glu) c.6946C>G (p.Gln2316Glu) c.6931C>G (p.Gln2311Glu) c.6904C>G (p.Gln2302Glu) c.6889C>G (p.Gln2297Glu) c.6910C>G (p.Gln2304Glu) c.6886C>G (p.Gln2296Glu) | |
9 | g.128632292C>T | CA375098875 | SPTAN1 | c.6964C>T (p.Gln2322Ter) c.6991C>T (p.Gln2331Ter) c.7015C>T (p.Gln2339Ter) c.6454C>T (p.Gln2152Ter) c.4533C>T c.2870C>T c.6928C>T (p.Gln2310Ter) n.652C>T c.6853C>T (p.Gln2285Ter) c.6913C>T (p.Gln2305Ter) n.882C>T n.685C>T c.6868C>T (p.Gln2290Ter) c.7027C>T (p.Gln2343Ter) c.7012C>T (p.Gln2338Ter) c.6967C>T (p.Gln2323Ter) c.6949C>T (p.Gln2317Ter) c.6946C>T (p.Gln2316Ter) c.6931C>T (p.Gln2311Ter) c.6904C>T (p.Gln2302Ter) c.6889C>T (p.Gln2297Ter) c.6910C>T (p.Gln2304Ter) c.6886C>T (p.Gln2296Ter) | |
9 | g.128632293A>C | CA375098878 | SPTAN1 | c.6965A>C (p.Gln2322Pro) c.6992A>C (p.Gln2331Pro) c.7016A>C (p.Gln2339Pro) c.6455A>C (p.Gln2152Pro) c.4534A>C c.2871A>C c.6929A>C (p.Gln2310Pro) n.653A>C c.6854A>C (p.Gln2285Pro) c.6914A>C (p.Gln2305Pro) n.883A>C n.686A>C c.6869A>C (p.Gln2290Pro) c.7028A>C (p.Gln2343Pro) c.7013A>C (p.Gln2338Pro) c.6968A>C (p.Gln2323Pro) c.6950A>C (p.Gln2317Pro) c.6947A>C (p.Gln2316Pro) c.6932A>C (p.Gln2311Pro) c.6905A>C (p.Gln2302Pro) c.6890A>C (p.Gln2297Pro) c.6911A>C (p.Gln2304Pro) c.6887A>C (p.Gln2296Pro) | |
9 | g.128632293A>G | CA375098880 | SPTAN1 | c.6965A>G (p.Gln2322Arg) c.6992A>G (p.Gln2331Arg) c.7016A>G (p.Gln2339Arg) c.6455A>G (p.Gln2152Arg) c.4534A>G c.2871A>G c.6929A>G (p.Gln2310Arg) n.653A>G c.6854A>G (p.Gln2285Arg) c.6914A>G (p.Gln2305Arg) n.883A>G n.686A>G c.6869A>G (p.Gln2290Arg) c.7028A>G (p.Gln2343Arg) c.7013A>G (p.Gln2338Arg) c.6968A>G (p.Gln2323Arg) c.6950A>G (p.Gln2317Arg) c.6947A>G (p.Gln2316Arg) c.6932A>G (p.Gln2311Arg) c.6905A>G (p.Gln2302Arg) c.6890A>G (p.Gln2297Arg) c.6911A>G (p.Gln2304Arg) c.6887A>G (p.Gln2296Arg) | |
9 | g.128632293A>T | CA375098882 | SPTAN1 | c.6965A>T (p.Gln2322Leu) c.6992A>T (p.Gln2331Leu) c.7016A>T (p.Gln2339Leu) c.6455A>T (p.Gln2152Leu) c.4534A>T c.2871A>T c.6929A>T (p.Gln2310Leu) n.653A>T c.6854A>T (p.Gln2285Leu) c.6914A>T (p.Gln2305Leu) n.883A>T n.686A>T c.6869A>T (p.Gln2290Leu) c.7028A>T (p.Gln2343Leu) c.7013A>T (p.Gln2338Leu) c.6968A>T (p.Gln2323Leu) c.6950A>T (p.Gln2317Leu) c.6947A>T (p.Gln2316Leu) c.6932A>T (p.Gln2311Leu) c.6905A>T (p.Gln2302Leu) c.6890A>T (p.Gln2297Leu) c.6911A>T (p.Gln2304Leu) c.6887A>T (p.Gln2296Leu) | |
9 | g.128632294G>A | CA467304864 | SPTAN1 | c.6966G>A (p.Gln2322=) c.6993G>A (p.Gln2331=) c.7017G>A (p.Gln2339=) c.6456G>A (p.Gln2152=) c.4535G>A c.2872G>A c.6930G>A (p.Gln2310=) n.654G>A c.6855G>A (p.Gln2285=) c.6915G>A (p.Gln2305=) n.884G>A n.687G>A c.6870G>A (p.Gln2290=) c.7029G>A (p.Gln2343=) c.7014G>A (p.Gln2338=) c.6969G>A (p.Gln2323=) c.6951G>A (p.Gln2317=) c.6948G>A (p.Gln2316=) c.6933G>A (p.Gln2311=) c.6906G>A (p.Gln2302=) c.6891G>A (p.Gln2297=) c.6912G>A (p.Gln2304=) c.6888G>A (p.Gln2296=) | |
9 | g.128632294G>C | CA375098886 | SPTAN1 | c.6966G>C (p.Gln2322His) c.6993G>C (p.Gln2331His) c.7017G>C (p.Gln2339His) c.6456G>C (p.Gln2152His) c.4535G>C c.2872G>C c.6930G>C (p.Gln2310His) n.654G>C c.6855G>C (p.Gln2285His) c.6915G>C (p.Gln2305His) n.884G>C n.687G>C c.6870G>C (p.Gln2290His) c.7029G>C (p.Gln2343His) c.7014G>C (p.Gln2338His) c.6969G>C (p.Gln2323His) c.6951G>C (p.Gln2317His) c.6948G>C (p.Gln2316His) c.6933G>C (p.Gln2311His) c.6906G>C (p.Gln2302His) c.6891G>C (p.Gln2297His) c.6912G>C (p.Gln2304His) c.6888G>C (p.Gln2296His) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128632294G= | CA1880371273 | SPTAN1 | c.6966G= (p.Gln2322=) c.6993G= (p.Gln2331=) c.7017G= (p.Gln2339=) c.6456G= (p.Gln2152=) c.4535G= c.2872G= c.6930G= (p.Gln2310=) n.654G= c.6855G= (p.Gln2285=) c.6915G= (p.Gln2305=) n.884G= n.687G= c.6870G= (p.Gln2290=) c.7029G= (p.Gln2343=) c.7014G= (p.Gln2338=) c.6969G= (p.Gln2323=) c.6951G= (p.Gln2317=) c.6948G= (p.Gln2316=) c.6933G= (p.Gln2311=) c.6906G= (p.Gln2302=) c.6891G= (p.Gln2297=) c.6912G= (p.Gln2304=) c.6888G= (p.Gln2296=) | |
9 | g.128632294G>T | CA375098888 | SPTAN1 | c.6966G>T (p.Gln2322His) c.6993G>T (p.Gln2331His) c.7017G>T (p.Gln2339His) c.6456G>T (p.Gln2152His) c.4535G>T c.2872G>T c.6930G>T (p.Gln2310His) n.654G>T c.6855G>T (p.Gln2285His) c.6915G>T (p.Gln2305His) n.884G>T n.687G>T c.6870G>T (p.Gln2290His) c.7029G>T (p.Gln2343His) c.7014G>T (p.Gln2338His) c.6969G>T (p.Gln2323His) c.6951G>T (p.Gln2317His) c.6948G>T (p.Gln2316His) c.6933G>T (p.Gln2311His) c.6906G>T (p.Gln2302His) c.6891G>T (p.Gln2297His) c.6912G>T (p.Gln2304His) c.6888G>T (p.Gln2296His) | |
9 | g.128632295C>A | CA375098891 | SPTAN1 | c.6967C>A (p.His2323Asn) c.6994C>A (p.His2332Asn) c.7018C>A (p.His2340Asn) c.6457C>A (p.His2153Asn) c.4536C>A c.2873C>A c.6931C>A (p.His2311Asn) n.655C>A c.6856C>A (p.His2286Asn) c.6916C>A (p.His2306Asn) n.885C>A n.688C>A c.6871C>A (p.His2291Asn) c.7030C>A (p.His2344Asn) c.7015C>A (p.His2339Asn) c.6970C>A (p.His2324Asn) c.6952C>A (p.His2318Asn) c.6949C>A (p.His2317Asn) c.6934C>A (p.His2312Asn) c.6907C>A (p.His2303Asn) c.6892C>A (p.His2298Asn) c.6913C>A (p.His2305Asn) c.6889C>A (p.His2297Asn) | |
9 | g.128632295C>G | CA375098894 | SPTAN1 | c.6967C>G (p.His2323Asp) c.6994C>G (p.His2332Asp) c.7018C>G (p.His2340Asp) c.6457C>G (p.His2153Asp) c.4536C>G c.2873C>G c.6931C>G (p.His2311Asp) n.655C>G c.6856C>G (p.His2286Asp) c.6916C>G (p.His2306Asp) n.885C>G n.688C>G c.6871C>G (p.His2291Asp) c.7030C>G (p.His2344Asp) c.7015C>G (p.His2339Asp) c.6970C>G (p.His2324Asp) c.6952C>G (p.His2318Asp) c.6949C>G (p.His2317Asp) c.6934C>G (p.His2312Asp) c.6907C>G (p.His2303Asp) c.6892C>G (p.His2298Asp) c.6913C>G (p.His2305Asp) c.6889C>G (p.His2297Asp) | |
9 | g.128632295C>T | CA375098897 | SPTAN1 | c.6967C>T (p.His2323Tyr) c.6994C>T (p.His2332Tyr) c.7018C>T (p.His2340Tyr) c.6457C>T (p.His2153Tyr) c.4536C>T c.2873C>T c.6931C>T (p.His2311Tyr) n.655C>T c.6856C>T (p.His2286Tyr) c.6916C>T (p.His2306Tyr) n.885C>T n.688C>T c.6871C>T (p.His2291Tyr) c.7030C>T (p.His2344Tyr) c.7015C>T (p.His2339Tyr) c.6970C>T (p.His2324Tyr) c.6952C>T (p.His2318Tyr) c.6949C>T (p.His2317Tyr) c.6934C>T (p.His2312Tyr) c.6907C>T (p.His2303Tyr) c.6892C>T (p.His2298Tyr) c.6913C>T (p.His2305Tyr) c.6889C>T (p.His2297Tyr) | |
9 | g.128632296A>C | CA375098899 | SPTAN1 | c.6968A>C (p.His2323Pro) c.6995A>C (p.His2332Pro) c.7019A>C (p.His2340Pro) c.6458A>C (p.His2153Pro) c.4537A>C c.2874A>C c.6932A>C (p.His2311Pro) n.656A>C c.6857A>C (p.His2286Pro) c.6917A>C (p.His2306Pro) n.886A>C n.689A>C c.6872A>C (p.His2291Pro) c.7031A>C (p.His2344Pro) c.7016A>C (p.His2339Pro) c.6971A>C (p.His2324Pro) c.6953A>C (p.His2318Pro) c.6950A>C (p.His2317Pro) c.6935A>C (p.His2312Pro) c.6908A>C (p.His2303Pro) c.6893A>C (p.His2298Pro) c.6914A>C (p.His2305Pro) c.6890A>C (p.His2297Pro) | |
9 | g.128632296A>G | CA375098901 | SPTAN1 | c.6968A>G (p.His2323Arg) c.6995A>G (p.His2332Arg) c.7019A>G (p.His2340Arg) c.6458A>G (p.His2153Arg) c.4537A>G c.2874A>G c.6932A>G (p.His2311Arg) n.656A>G c.6857A>G (p.His2286Arg) c.6917A>G (p.His2306Arg) n.886A>G n.689A>G c.6872A>G (p.His2291Arg) c.7031A>G (p.His2344Arg) c.7016A>G (p.His2339Arg) c.6971A>G (p.His2324Arg) c.6953A>G (p.His2318Arg) c.6950A>G (p.His2317Arg) c.6935A>G (p.His2312Arg) c.6908A>G (p.His2303Arg) c.6893A>G (p.His2298Arg) c.6914A>G (p.His2305Arg) c.6890A>G (p.His2297Arg) | COSMIC COSMIC |
9 | g.128632296A>T | CA375098903 | SPTAN1 | c.6968A>T (p.His2323Leu) c.6995A>T (p.His2332Leu) c.7019A>T (p.His2340Leu) c.6458A>T (p.His2153Leu) c.4537A>T c.2874A>T c.6932A>T (p.His2311Leu) n.656A>T c.6857A>T (p.His2286Leu) c.6917A>T (p.His2306Leu) n.886A>T n.689A>T c.6872A>T (p.His2291Leu) c.7031A>T (p.His2344Leu) c.7016A>T (p.His2339Leu) c.6971A>T (p.His2324Leu) c.6953A>T (p.His2318Leu) c.6950A>T (p.His2317Leu) c.6935A>T (p.His2312Leu) c.6908A>T (p.His2303Leu) c.6893A>T (p.His2298Leu) c.6914A>T (p.His2305Leu) c.6890A>T (p.His2297Leu) | |
9 | g.128632297C>A | CA375098907 | SPTAN1 | c.6969C>A (p.His2323Gln) c.6996C>A (p.His2332Gln) c.7020C>A (p.His2340Gln) c.6459C>A (p.His2153Gln) c.4538C>A c.2875C>A c.6933C>A (p.His2311Gln) n.657C>A c.6858C>A (p.His2286Gln) c.6918C>A (p.His2306Gln) n.887C>A n.690C>A c.6873C>A (p.His2291Gln) c.7032C>A (p.His2344Gln) c.7017C>A (p.His2339Gln) c.6972C>A (p.His2324Gln) c.6954C>A (p.His2318Gln) c.6951C>A (p.His2317Gln) c.6936C>A (p.His2312Gln) c.6909C>A (p.His2303Gln) c.6894C>A (p.His2298Gln) c.6915C>A (p.His2305Gln) c.6891C>A (p.His2297Gln) | |
9 | g.128632297C>G | CA375098910 | SPTAN1 | c.6969C>G (p.His2323Gln) c.6996C>G (p.His2332Gln) c.7020C>G (p.His2340Gln) c.6459C>G (p.His2153Gln) c.4538C>G c.2875C>G c.6933C>G (p.His2311Gln) n.657C>G c.6858C>G (p.His2286Gln) c.6918C>G (p.His2306Gln) n.887C>G n.690C>G c.6873C>G (p.His2291Gln) c.7032C>G (p.His2344Gln) c.7017C>G (p.His2339Gln) c.6972C>G (p.His2324Gln) c.6954C>G (p.His2318Gln) c.6951C>G (p.His2317Gln) c.6936C>G (p.His2312Gln) c.6909C>G (p.His2303Gln) c.6894C>G (p.His2298Gln) c.6915C>G (p.His2305Gln) c.6891C>G (p.His2297Gln) | |
9 | g.128632297C>T | CA467304865 | SPTAN1 | c.6969C>T (p.His2323=) c.6996C>T (p.His2332=) c.7020C>T (p.His2340=) c.6459C>T (p.His2153=) c.4538C>T c.2875C>T c.6933C>T (p.His2311=) n.657C>T c.6858C>T (p.His2286=) c.6918C>T (p.His2306=) n.887C>T n.690C>T c.6873C>T (p.His2291=) c.7032C>T (p.His2344=) c.7017C>T (p.His2339=) c.6972C>T (p.His2324=) c.6954C>T (p.His2318=) c.6951C>T (p.His2317=) c.6936C>T (p.His2312=) c.6909C>T (p.His2303=) c.6894C>T (p.His2298=) c.6915C>T (p.His2305=) c.6891C>T (p.His2297=) | |
9 | g.128632298A>C | CA375098937 | SPTAN1 | c.6970A>C (p.Asn2324His) c.6997A>C (p.Asn2333His) c.7021A>C (p.Asn2341His) c.6460A>C (p.Asn2154His) c.4539A>C c.2876A>C c.6934A>C (p.Asn2312His) n.658A>C c.6859A>C (p.Asn2287His) c.6919A>C (p.Asn2307His) n.888A>C n.691A>C c.6874A>C (p.Asn2292His) c.7033A>C (p.Asn2345His) c.7018A>C (p.Asn2340His) c.6973A>C (p.Asn2325His) c.6955A>C (p.Asn2319His) c.6952A>C (p.Asn2318His) c.6937A>C (p.Asn2313His) c.6910A>C (p.Asn2304His) c.6895A>C (p.Asn2299His) c.6916A>C (p.Asn2306His) c.6892A>C (p.Asn2298His) | |
9 | g.128632298A>G | CA375098923 | SPTAN1 | c.6970A>G (p.Asn2324Asp) c.6997A>G (p.Asn2333Asp) c.7021A>G (p.Asn2341Asp) c.6460A>G (p.Asn2154Asp) c.4539A>G c.2876A>G c.6934A>G (p.Asn2312Asp) n.658A>G c.6859A>G (p.Asn2287Asp) c.6919A>G (p.Asn2307Asp) n.888A>G n.691A>G c.6874A>G (p.Asn2292Asp) c.7033A>G (p.Asn2345Asp) c.7018A>G (p.Asn2340Asp) c.6973A>G (p.Asn2325Asp) c.6955A>G (p.Asn2319Asp) c.6952A>G (p.Asn2318Asp) c.6937A>G (p.Asn2313Asp) c.6910A>G (p.Asn2304Asp) c.6895A>G (p.Asn2299Asp) c.6916A>G (p.Asn2306Asp) c.6892A>G (p.Asn2298Asp) | |
9 | g.128632298A>T | CA375098919 | SPTAN1 | c.6970A>T (p.Asn2324Tyr) c.6997A>T (p.Asn2333Tyr) c.7021A>T (p.Asn2341Tyr) c.6460A>T (p.Asn2154Tyr) c.4539A>T c.2876A>T c.6934A>T (p.Asn2312Tyr) n.658A>T c.6859A>T (p.Asn2287Tyr) c.6919A>T (p.Asn2307Tyr) n.888A>T n.691A>T c.6874A>T (p.Asn2292Tyr) c.7033A>T (p.Asn2345Tyr) c.7018A>T (p.Asn2340Tyr) c.6973A>T (p.Asn2325Tyr) c.6955A>T (p.Asn2319Tyr) c.6952A>T (p.Asn2318Tyr) c.6937A>T (p.Asn2313Tyr) c.6910A>T (p.Asn2304Tyr) c.6895A>T (p.Asn2299Tyr) c.6916A>T (p.Asn2306Tyr) c.6892A>T (p.Asn2298Tyr) | |
9 | g.128632299A>C | CA375098946 | SPTAN1 | c.6971A>C (p.Asn2324Thr) c.6998A>C (p.Asn2333Thr) c.7022A>C (p.Asn2341Thr) c.6461A>C (p.Asn2154Thr) c.4540A>C c.2877A>C c.6935A>C (p.Asn2312Thr) n.659A>C c.6860A>C (p.Asn2287Thr) c.6920A>C (p.Asn2307Thr) n.889A>C n.692A>C c.6875A>C (p.Asn2292Thr) c.7034A>C (p.Asn2345Thr) c.7019A>C (p.Asn2340Thr) c.6974A>C (p.Asn2325Thr) c.6956A>C (p.Asn2319Thr) c.6953A>C (p.Asn2318Thr) c.6938A>C (p.Asn2313Thr) c.6911A>C (p.Asn2304Thr) c.6896A>C (p.Asn2299Thr) c.6917A>C (p.Asn2306Thr) c.6893A>C (p.Asn2298Thr) | |
9 | g.128632299A>G | CA375098944 | SPTAN1 | c.6971A>G (p.Asn2324Ser) c.6998A>G (p.Asn2333Ser) c.7022A>G (p.Asn2341Ser) c.6461A>G (p.Asn2154Ser) c.4540A>G c.2877A>G c.6935A>G (p.Asn2312Ser) n.659A>G c.6860A>G (p.Asn2287Ser) c.6920A>G (p.Asn2307Ser) n.889A>G n.692A>G c.6875A>G (p.Asn2292Ser) c.7034A>G (p.Asn2345Ser) c.7019A>G (p.Asn2340Ser) c.6974A>G (p.Asn2325Ser) c.6956A>G (p.Asn2319Ser) c.6953A>G (p.Asn2318Ser) c.6938A>G (p.Asn2313Ser) c.6911A>G (p.Asn2304Ser) c.6896A>G (p.Asn2299Ser) c.6917A>G (p.Asn2306Ser) c.6893A>G (p.Asn2298Ser) | |
9 | g.128632299A>T | CA375098949 | SPTAN1 | c.6971A>T (p.Asn2324Ile) c.6998A>T (p.Asn2333Ile) c.7022A>T (p.Asn2341Ile) c.6461A>T (p.Asn2154Ile) c.4540A>T c.2877A>T c.6935A>T (p.Asn2312Ile) n.659A>T c.6860A>T (p.Asn2287Ile) c.6920A>T (p.Asn2307Ile) n.889A>T n.692A>T c.6875A>T (p.Asn2292Ile) c.7034A>T (p.Asn2345Ile) c.7019A>T (p.Asn2340Ile) c.6974A>T (p.Asn2325Ile) c.6956A>T (p.Asn2319Ile) c.6953A>T (p.Asn2318Ile) c.6938A>T (p.Asn2313Ile) c.6911A>T (p.Asn2304Ile) c.6896A>T (p.Asn2299Ile) c.6917A>T (p.Asn2306Ile) c.6893A>T (p.Asn2298Ile) | |
9 | g.128632300C>A | CA375098957 | SPTAN1 | c.6972C>A (p.Asn2324Lys) c.6999C>A (p.Asn2333Lys) c.7023C>A (p.Asn2341Lys) c.6462C>A (p.Asn2154Lys) c.4541C>A c.2878C>A c.6936C>A (p.Asn2312Lys) n.660C>A c.6861C>A (p.Asn2287Lys) c.6921C>A (p.Asn2307Lys) n.890C>A n.693C>A c.6876C>A (p.Asn2292Lys) c.7035C>A (p.Asn2345Lys) c.7020C>A (p.Asn2340Lys) c.6975C>A (p.Asn2325Lys) c.6957C>A (p.Asn2319Lys) c.6954C>A (p.Asn2318Lys) c.6939C>A (p.Asn2313Lys) c.6912C>A (p.Asn2304Lys) c.6897C>A (p.Asn2299Lys) c.6918C>A (p.Asn2306Lys) c.6894C>A (p.Asn2298Lys) | |
9 | g.128632300C= | CA1880371274 | SPTAN1 | c.6972C= (p.Asn2324=) c.6999C= (p.Asn2333=) c.7023C= (p.Asn2341=) c.6462C= (p.Asn2154=) c.4541C= c.2878C= c.6936C= (p.Asn2312=) n.660C= c.6861C= (p.Asn2287=) c.6921C= (p.Asn2307=) n.890C= n.693C= c.6876C= (p.Asn2292=) c.7035C= (p.Asn2345=) c.7020C= (p.Asn2340=) c.6975C= (p.Asn2325=) c.6957C= (p.Asn2319=) c.6954C= (p.Asn2318=) c.6939C= (p.Asn2313=) c.6912C= (p.Asn2304=) c.6897C= (p.Asn2299=) c.6918C= (p.Asn2306=) c.6894C= (p.Asn2298=) | |
9 | g.128632300C>G | CA375098963 | SPTAN1 | c.6972C>G (p.Asn2324Lys) c.6999C>G (p.Asn2333Lys) c.7023C>G (p.Asn2341Lys) c.6462C>G (p.Asn2154Lys) c.4541C>G c.2878C>G c.6936C>G (p.Asn2312Lys) n.660C>G c.6861C>G (p.Asn2287Lys) c.6921C>G (p.Asn2307Lys) n.890C>G n.693C>G c.6876C>G (p.Asn2292Lys) c.7035C>G (p.Asn2345Lys) c.7020C>G (p.Asn2340Lys) c.6975C>G (p.Asn2325Lys) c.6957C>G (p.Asn2319Lys) c.6954C>G (p.Asn2318Lys) c.6939C>G (p.Asn2313Lys) c.6912C>G (p.Asn2304Lys) c.6897C>G (p.Asn2299Lys) c.6918C>G (p.Asn2306Lys) c.6894C>G (p.Asn2298Lys) | |
9 | g.128632300C>T | CA200412537 | SPTAN1 | c.6972C>T (p.Asn2324=) c.6999C>T (p.Asn2333=) c.7023C>T (p.Asn2341=) c.6462C>T (p.Asn2154=) c.4541C>T c.2878C>T c.6936C>T (p.Asn2312=) n.660C>T c.6861C>T (p.Asn2287=) c.6921C>T (p.Asn2307=) n.890C>T n.693C>T c.6876C>T (p.Asn2292=) c.7035C>T (p.Asn2345=) c.7020C>T (p.Asn2340=) c.6975C>T (p.Asn2325=) c.6957C>T (p.Asn2319=) c.6954C>T (p.Asn2318=) c.6939C>T (p.Asn2313=) c.6912C>T (p.Asn2304=) c.6897C>T (p.Asn2299=) c.6918C>T (p.Asn2306=) c.6894C>T (p.Asn2298=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632301dup | CA2580079755 | SPTAN1 | c.6973dup (p.Leu2325ProfsTer15) c.7000dup (p.Leu2334ProfsTer15) c.7024dup (p.Leu2342ProfsTer15) c.6463dup (p.Leu2155ProfsTer15) c.4542dup c.2879dup c.6937dup (p.Leu2313ProfsTer15) n.661dup c.6862dup (p.Leu2288ProfsTer15) c.6922dup (p.Leu2308ProfsTer15) n.891dup n.694dup c.6877dup (p.Leu2293ProfsTer15) c.7036dup (p.Leu2346ProfsTer15) c.7021dup (p.Leu2341ProfsTer15) c.6976dup (p.Leu2326ProfsTer15) c.6958dup (p.Leu2320ProfsTer15) c.6955dup (p.Leu2319ProfsTer15) c.6940dup (p.Leu2314ProfsTer15) c.6913dup (p.Leu2305ProfsTer15) c.6898dup (p.Leu2300ProfsTer15) c.6919dup (p.Leu2307ProfsTer15) c.6895dup (p.Leu2299ProfsTer15) | ClinVar |
9 | g.128632301C>A | CA375098969 | SPTAN1 | c.6973C>A (p.Leu2325Met) c.7000C>A (p.Leu2334Met) c.7024C>A (p.Leu2342Met) c.6463C>A (p.Leu2155Met) c.4542C>A c.2879C>A c.6937C>A (p.Leu2313Met) n.661C>A c.6862C>A (p.Leu2288Met) c.6922C>A (p.Leu2308Met) n.891C>A n.694C>A c.6877C>A (p.Leu2293Met) c.7036C>A (p.Leu2346Met) c.7021C>A (p.Leu2341Met) c.6976C>A (p.Leu2326Met) c.6958C>A (p.Leu2320Met) c.6955C>A (p.Leu2319Met) c.6940C>A (p.Leu2314Met) c.6913C>A (p.Leu2305Met) c.6898C>A (p.Leu2300Met) c.6919C>A (p.Leu2307Met) c.6895C>A (p.Leu2299Met) | |
9 | g.128632301C>G | CA375098970 | SPTAN1 | c.6973C>G (p.Leu2325Val) c.7000C>G (p.Leu2334Val) c.7024C>G (p.Leu2342Val) c.6463C>G (p.Leu2155Val) c.4542C>G c.2879C>G c.6937C>G (p.Leu2313Val) n.661C>G c.6862C>G (p.Leu2288Val) c.6922C>G (p.Leu2308Val) n.891C>G n.694C>G c.6877C>G (p.Leu2293Val) c.7036C>G (p.Leu2346Val) c.7021C>G (p.Leu2341Val) c.6976C>G (p.Leu2326Val) c.6958C>G (p.Leu2320Val) c.6955C>G (p.Leu2319Val) c.6940C>G (p.Leu2314Val) c.6913C>G (p.Leu2305Val) c.6898C>G (p.Leu2300Val) c.6919C>G (p.Leu2307Val) c.6895C>G (p.Leu2299Val) | |
9 | g.128632301C>T | CA467304866 | SPTAN1 | c.6973C>T (p.Leu2325=) c.7000C>T (p.Leu2334=) c.7024C>T (p.Leu2342=) c.6463C>T (p.Leu2155=) c.4542C>T c.2879C>T c.6937C>T (p.Leu2313=) n.661C>T c.6862C>T (p.Leu2288=) c.6922C>T (p.Leu2308=) n.891C>T n.694C>T c.6877C>T (p.Leu2293=) c.7036C>T (p.Leu2346=) c.7021C>T (p.Leu2341=) c.6976C>T (p.Leu2326=) c.6958C>T (p.Leu2320=) c.6955C>T (p.Leu2319=) c.6940C>T (p.Leu2314=) c.6913C>T (p.Leu2305=) c.6898C>T (p.Leu2300=) c.6919C>T (p.Leu2307=) c.6895C>T (p.Leu2299=) | |
9 | g.128632302T>A | CA375098971 | SPTAN1 | c.6974T>A (p.Leu2325Gln) c.7001T>A (p.Leu2334Gln) c.7025T>A (p.Leu2342Gln) c.6464T>A (p.Leu2155Gln) c.4543T>A c.2880T>A c.6938T>A (p.Leu2313Gln) n.662T>A c.6863T>A (p.Leu2288Gln) c.6923T>A (p.Leu2308Gln) n.892T>A n.695T>A c.6878T>A (p.Leu2293Gln) c.7037T>A (p.Leu2346Gln) c.7022T>A (p.Leu2341Gln) c.6977T>A (p.Leu2326Gln) c.6959T>A (p.Leu2320Gln) c.6956T>A (p.Leu2319Gln) c.6941T>A (p.Leu2314Gln) c.6914T>A (p.Leu2305Gln) c.6899T>A (p.Leu2300Gln) c.6920T>A (p.Leu2307Gln) c.6896T>A (p.Leu2299Gln) | |
9 | g.128632302T>C | CA318784 | SPTAN1 | c.6974T>C (p.Leu2325Pro) c.7001T>C (p.Leu2334Pro) c.7025T>C (p.Leu2342Pro) c.6464T>C (p.Leu2155Pro) c.4543T>C c.2880T>C c.6938T>C (p.Leu2313Pro) n.662T>C c.6863T>C (p.Leu2288Pro) c.6923T>C (p.Leu2308Pro) n.892T>C n.695T>C c.6878T>C (p.Leu2293Pro) c.7037T>C (p.Leu2346Pro) c.7022T>C (p.Leu2341Pro) c.6977T>C (p.Leu2326Pro) c.6959T>C (p.Leu2320Pro) c.6956T>C (p.Leu2319Pro) c.6941T>C (p.Leu2314Pro) c.6914T>C (p.Leu2305Pro) c.6899T>C (p.Leu2300Pro) c.6920T>C (p.Leu2307Pro) c.6896T>C (p.Leu2299Pro) | dbSNP |
9 | g.128632302T>G | CA375098975 | SPTAN1 | c.6974T>G (p.Leu2325Arg) c.7001T>G (p.Leu2334Arg) c.7025T>G (p.Leu2342Arg) c.6464T>G (p.Leu2155Arg) c.4543T>G c.2880T>G c.6938T>G (p.Leu2313Arg) n.662T>G c.6863T>G (p.Leu2288Arg) c.6923T>G (p.Leu2308Arg) n.892T>G n.695T>G c.6878T>G (p.Leu2293Arg) c.7037T>G (p.Leu2346Arg) c.7022T>G (p.Leu2341Arg) c.6977T>G (p.Leu2326Arg) c.6959T>G (p.Leu2320Arg) c.6956T>G (p.Leu2319Arg) c.6941T>G (p.Leu2314Arg) c.6914T>G (p.Leu2305Arg) c.6899T>G (p.Leu2300Arg) c.6920T>G (p.Leu2307Arg) c.6896T>G (p.Leu2299Arg) | |
9 | g.128632302T= | CA1880371275 | SPTAN1 | c.6974T= (p.Leu2325=) c.7001T= (p.Leu2334=) c.7025T= (p.Leu2342=) c.6464T= (p.Leu2155=) c.4543T= c.2880T= c.6938T= (p.Leu2313=) n.662T= c.6863T= (p.Leu2288=) c.6923T= (p.Leu2308=) n.892T= n.695T= c.6878T= (p.Leu2293=) c.7037T= (p.Leu2346=) c.7022T= (p.Leu2341=) c.6977T= (p.Leu2326=) c.6959T= (p.Leu2320=) c.6956T= (p.Leu2319=) c.6941T= (p.Leu2314=) c.6914T= (p.Leu2305=) c.6899T= (p.Leu2300=) c.6920T= (p.Leu2307=) c.6896T= (p.Leu2299=) | |
9 | g.128632303G>A | CA467304867 | SPTAN1 | c.6975G>A (p.Leu2325=) c.7002G>A (p.Leu2334=) c.7026G>A (p.Leu2342=) c.6465G>A (p.Leu2155=) c.4544G>A c.2881G>A c.6939G>A (p.Leu2313=) n.663G>A c.6864G>A (p.Leu2288=) c.6924G>A (p.Leu2308=) n.893G>A n.696G>A c.6879G>A (p.Leu2293=) c.7038G>A (p.Leu2346=) c.7023G>A (p.Leu2341=) c.6978G>A (p.Leu2326=) c.6960G>A (p.Leu2320=) c.6957G>A (p.Leu2319=) c.6942G>A (p.Leu2314=) c.6915G>A (p.Leu2305=) c.6900G>A (p.Leu2300=) c.6921G>A (p.Leu2307=) c.6897G>A (p.Leu2299=) | gnomAD v4 |
9 | g.128632303G>C | CA467304868 | SPTAN1 | c.6975G>C (p.Leu2325=) c.7002G>C (p.Leu2334=) c.7026G>C (p.Leu2342=) c.6465G>C (p.Leu2155=) c.4544G>C c.2881G>C c.6939G>C (p.Leu2313=) n.663G>C c.6864G>C (p.Leu2288=) c.6924G>C (p.Leu2308=) n.893G>C n.696G>C c.6879G>C (p.Leu2293=) c.7038G>C (p.Leu2346=) c.7023G>C (p.Leu2341=) c.6978G>C (p.Leu2326=) c.6960G>C (p.Leu2320=) c.6957G>C (p.Leu2319=) c.6942G>C (p.Leu2314=) c.6915G>C (p.Leu2305=) c.6900G>C (p.Leu2300=) c.6921G>C (p.Leu2307=) c.6897G>C (p.Leu2299=) | |
9 | g.128632303G>T | CA467304869 | SPTAN1 | c.6975G>T (p.Leu2325=) c.7002G>T (p.Leu2334=) c.7026G>T (p.Leu2342=) c.6465G>T (p.Leu2155=) c.4544G>T c.2881G>T c.6939G>T (p.Leu2313=) n.663G>T c.6864G>T (p.Leu2288=) c.6924G>T (p.Leu2308=) n.893G>T n.696G>T c.6879G>T (p.Leu2293=) c.7038G>T (p.Leu2346=) c.7023G>T (p.Leu2341=) c.6978G>T (p.Leu2326=) c.6960G>T (p.Leu2320=) c.6957G>T (p.Leu2319=) c.6942G>T (p.Leu2314=) c.6915G>T (p.Leu2305=) c.6900G>T (p.Leu2300=) c.6921G>T (p.Leu2307=) c.6897G>T (p.Leu2299=) | |
9 | g.128632304G>A | CA375098977 | SPTAN1 | c.6976G>A (p.Glu2326Lys) c.7003G>A (p.Glu2335Lys) c.7027G>A (p.Glu2343Lys) c.6466G>A (p.Glu2156Lys) c.4545G>A c.2882G>A c.6940G>A (p.Glu2314Lys) n.664G>A c.6865G>A (p.Glu2289Lys) c.6925G>A (p.Glu2309Lys) n.894G>A n.697G>A c.6880G>A (p.Glu2294Lys) c.7039G>A (p.Glu2347Lys) c.7024G>A (p.Glu2342Lys) c.6979G>A (p.Glu2327Lys) c.6961G>A (p.Glu2321Lys) c.6958G>A (p.Glu2320Lys) c.6943G>A (p.Glu2315Lys) c.6916G>A (p.Glu2306Lys) c.6901G>A (p.Glu2301Lys) c.6922G>A (p.Glu2308Lys) c.6898G>A (p.Glu2300Lys) | |
9 | g.128632304G>C | CA375098980 | SPTAN1 | c.6976G>C (p.Glu2326Gln) c.7003G>C (p.Glu2335Gln) c.7027G>C (p.Glu2343Gln) c.6466G>C (p.Glu2156Gln) c.4545G>C c.2882G>C c.6940G>C (p.Glu2314Gln) n.664G>C c.6865G>C (p.Glu2289Gln) c.6925G>C (p.Glu2309Gln) n.894G>C n.697G>C c.6880G>C (p.Glu2294Gln) c.7039G>C (p.Glu2347Gln) c.7024G>C (p.Glu2342Gln) c.6979G>C (p.Glu2327Gln) c.6961G>C (p.Glu2321Gln) c.6958G>C (p.Glu2320Gln) c.6943G>C (p.Glu2315Gln) c.6916G>C (p.Glu2306Gln) c.6901G>C (p.Glu2301Gln) c.6922G>C (p.Glu2308Gln) c.6898G>C (p.Glu2300Gln) | |
9 | g.128632304G>T | CA375098985 | SPTAN1 | c.6976G>T (p.Glu2326Ter) c.7003G>T (p.Glu2335Ter) c.7027G>T (p.Glu2343Ter) c.6466G>T (p.Glu2156Ter) c.4545G>T c.2882G>T c.6940G>T (p.Glu2314Ter) n.664G>T c.6865G>T (p.Glu2289Ter) c.6925G>T (p.Glu2309Ter) n.894G>T n.697G>T c.6880G>T (p.Glu2294Ter) c.7039G>T (p.Glu2347Ter) c.7024G>T (p.Glu2342Ter) c.6979G>T (p.Glu2327Ter) c.6961G>T (p.Glu2321Ter) c.6958G>T (p.Glu2320Ter) c.6943G>T (p.Glu2315Ter) c.6916G>T (p.Glu2306Ter) c.6901G>T (p.Glu2301Ter) c.6922G>T (p.Glu2308Ter) c.6898G>T (p.Glu2300Ter) | |
9 | g.128632305A>C | CA375098990 | SPTAN1 | c.6977A>C (p.Glu2326Ala) c.7004A>C (p.Glu2335Ala) c.7028A>C (p.Glu2343Ala) c.6467A>C (p.Glu2156Ala) c.4546A>C c.2883A>C c.6941A>C (p.Glu2314Ala) n.665A>C c.6866A>C (p.Glu2289Ala) c.6926A>C (p.Glu2309Ala) n.895A>C n.698A>C c.6881A>C (p.Glu2294Ala) c.7040A>C (p.Glu2347Ala) c.7025A>C (p.Glu2342Ala) c.6980A>C (p.Glu2327Ala) c.6962A>C (p.Glu2321Ala) c.6959A>C (p.Glu2320Ala) c.6944A>C (p.Glu2315Ala) c.6917A>C (p.Glu2306Ala) c.6902A>C (p.Glu2301Ala) c.6923A>C (p.Glu2308Ala) c.6899A>C (p.Glu2300Ala) | |
9 | g.128632305A>G | CA375098998 | SPTAN1 | c.6977A>G (p.Glu2326Gly) c.7004A>G (p.Glu2335Gly) c.7028A>G (p.Glu2343Gly) c.6467A>G (p.Glu2156Gly) c.4546A>G c.2883A>G c.6941A>G (p.Glu2314Gly) n.665A>G c.6866A>G (p.Glu2289Gly) c.6926A>G (p.Glu2309Gly) n.895A>G n.698A>G c.6881A>G (p.Glu2294Gly) c.7040A>G (p.Glu2347Gly) c.7025A>G (p.Glu2342Gly) c.6980A>G (p.Glu2327Gly) c.6962A>G (p.Glu2321Gly) c.6959A>G (p.Glu2320Gly) c.6944A>G (p.Glu2315Gly) c.6917A>G (p.Glu2306Gly) c.6902A>G (p.Glu2301Gly) c.6923A>G (p.Glu2308Gly) c.6899A>G (p.Glu2300Gly) | |
9 | g.128632305A>T | CA375099014 | SPTAN1 | c.6977A>T (p.Glu2326Val) c.7004A>T (p.Glu2335Val) c.7028A>T (p.Glu2343Val) c.6467A>T (p.Glu2156Val) c.4546A>T c.2883A>T c.6941A>T (p.Glu2314Val) n.665A>T c.6866A>T (p.Glu2289Val) c.6926A>T (p.Glu2309Val) n.895A>T n.698A>T c.6881A>T (p.Glu2294Val) c.7040A>T (p.Glu2347Val) c.7025A>T (p.Glu2342Val) c.6980A>T (p.Glu2327Val) c.6962A>T (p.Glu2321Val) c.6959A>T (p.Glu2320Val) c.6944A>T (p.Glu2315Val) c.6917A>T (p.Glu2306Val) c.6902A>T (p.Glu2301Val) c.6923A>T (p.Glu2308Val) c.6899A>T (p.Glu2300Val) | |
9 | g.128632306G>A | CA467484992 | SPTAN1 | c.6978G>A (p.Glu2326=) c.7005G>A (p.Glu2335=) c.7029G>A (p.Glu2343=) c.6468G>A (p.Glu2156=) c.4547G>A c.2884G>A c.6942G>A (p.Glu2314=) n.666G>A c.6867G>A (p.Glu2289=) c.6927G>A (p.Glu2309=) n.896G>A n.699G>A c.6882G>A (p.Glu2294=) c.7041G>A (p.Glu2347=) c.7026G>A (p.Glu2342=) c.6981G>A (p.Glu2327=) c.6963G>A (p.Glu2321=) c.6960G>A (p.Glu2320=) c.6945G>A (p.Glu2315=) c.6918G>A (p.Glu2306=) c.6903G>A (p.Glu2301=) c.6924G>A (p.Glu2308=) c.6900G>A (p.Glu2300=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632306G>C | CA375099018 | SPTAN1 | c.6978G>C (p.Glu2326Asp) c.7005G>C (p.Glu2335Asp) c.7029G>C (p.Glu2343Asp) c.6468G>C (p.Glu2156Asp) c.4547G>C c.2884G>C c.6942G>C (p.Glu2314Asp) n.666G>C c.6867G>C (p.Glu2289Asp) c.6927G>C (p.Glu2309Asp) n.896G>C n.699G>C c.6882G>C (p.Glu2294Asp) c.7041G>C (p.Glu2347Asp) c.7026G>C (p.Glu2342Asp) c.6981G>C (p.Glu2327Asp) c.6963G>C (p.Glu2321Asp) c.6960G>C (p.Glu2320Asp) c.6945G>C (p.Glu2315Asp) c.6918G>C (p.Glu2306Asp) c.6903G>C (p.Glu2301Asp) c.6924G>C (p.Glu2308Asp) c.6900G>C (p.Glu2300Asp) | |
9 | g.128632306G= | CA1880371276 | SPTAN1 | c.6978G= (p.Glu2326=) c.7005G= (p.Glu2335=) c.7029G= (p.Glu2343=) c.6468G= (p.Glu2156=) c.4547G= c.2884G= c.6942G= (p.Glu2314=) n.666G= c.6867G= (p.Glu2289=) c.6927G= (p.Glu2309=) n.896G= n.699G= c.6882G= (p.Glu2294=) c.7041G= (p.Glu2347=) c.7026G= (p.Glu2342=) c.6981G= (p.Glu2327=) c.6963G= (p.Glu2321=) c.6960G= (p.Glu2320=) c.6945G= (p.Glu2315=) c.6918G= (p.Glu2306=) c.6903G= (p.Glu2301=) c.6924G= (p.Glu2308=) c.6900G= (p.Glu2300=) | |
9 | g.128632306G>T | CA375099019 | SPTAN1 | c.6978G>T (p.Glu2326Asp) c.7005G>T (p.Glu2335Asp) c.7029G>T (p.Glu2343Asp) c.6468G>T (p.Glu2156Asp) c.4547G>T c.2884G>T c.6942G>T (p.Glu2314Asp) n.666G>T c.6867G>T (p.Glu2289Asp) c.6927G>T (p.Glu2309Asp) n.896G>T n.699G>T c.6882G>T (p.Glu2294Asp) c.7041G>T (p.Glu2347Asp) c.7026G>T (p.Glu2342Asp) c.6981G>T (p.Glu2327Asp) c.6963G>T (p.Glu2321Asp) c.6960G>T (p.Glu2320Asp) c.6945G>T (p.Glu2315Asp) c.6918G>T (p.Glu2306Asp) c.6903G>T (p.Glu2301Asp) c.6924G>T (p.Glu2308Asp) c.6900G>T (p.Glu2300Asp) | COSMIC COSMIC |
9 | g.128632307C>A | CA375099023 | SPTAN1 | c.6979C>A (p.Gln2327Lys) c.7006C>A (p.Gln2336Lys) c.7030C>A (p.Gln2344Lys) c.6469C>A (p.Gln2157Lys) c.4548C>A c.2885C>A c.6943C>A (p.Gln2315Lys) n.667C>A c.6868C>A (p.Gln2290Lys) c.6928C>A (p.Gln2310Lys) n.897C>A n.700C>A c.6883C>A (p.Gln2295Lys) c.7042C>A (p.Gln2348Lys) c.7027C>A (p.Gln2343Lys) c.6982C>A (p.Gln2328Lys) c.6964C>A (p.Gln2322Lys) c.6961C>A (p.Gln2321Lys) c.6946C>A (p.Gln2316Lys) c.6919C>A (p.Gln2307Lys) c.6904C>A (p.Gln2302Lys) c.6925C>A (p.Gln2309Lys) c.6901C>A (p.Gln2301Lys) | |
9 | g.128632307C= | CA1880371277 | SPTAN1 | c.6979C= (p.Gln2327=) c.7006C= (p.Gln2336=) c.7030C= (p.Gln2344=) c.6469C= (p.Gln2157=) c.4548C= c.2885C= c.6943C= (p.Gln2315=) n.667C= c.6868C= (p.Gln2290=) c.6928C= (p.Gln2310=) n.897C= n.700C= c.6883C= (p.Gln2295=) c.7042C= (p.Gln2348=) c.7027C= (p.Gln2343=) c.6982C= (p.Gln2328=) c.6964C= (p.Gln2322=) c.6961C= (p.Gln2321=) c.6946C= (p.Gln2316=) c.6919C= (p.Gln2307=) c.6904C= (p.Gln2302=) c.6925C= (p.Gln2309=) c.6901C= (p.Gln2301=) | |
9 | g.128632307C>G | CA375099039 | SPTAN1 | c.6979C>G (p.Gln2327Glu) c.7006C>G (p.Gln2336Glu) c.7030C>G (p.Gln2344Glu) c.6469C>G (p.Gln2157Glu) c.4548C>G c.2885C>G c.6943C>G (p.Gln2315Glu) n.667C>G c.6868C>G (p.Gln2290Glu) c.6928C>G (p.Gln2310Glu) n.897C>G n.700C>G c.6883C>G (p.Gln2295Glu) c.7042C>G (p.Gln2348Glu) c.7027C>G (p.Gln2343Glu) c.6982C>G (p.Gln2328Glu) c.6964C>G (p.Gln2322Glu) c.6961C>G (p.Gln2321Glu) c.6946C>G (p.Gln2316Glu) c.6919C>G (p.Gln2307Glu) c.6904C>G (p.Gln2302Glu) c.6925C>G (p.Gln2309Glu) c.6901C>G (p.Gln2301Glu) | ClinVar dbSNP |
9 | g.128632307C>T | CA375099038 | SPTAN1 | c.6979C>T (p.Gln2327Ter) c.7006C>T (p.Gln2336Ter) c.7030C>T (p.Gln2344Ter) c.6469C>T (p.Gln2157Ter) c.4548C>T c.2885C>T c.6943C>T (p.Gln2315Ter) n.667C>T c.6868C>T (p.Gln2290Ter) c.6928C>T (p.Gln2310Ter) n.897C>T n.700C>T c.6883C>T (p.Gln2295Ter) c.7042C>T (p.Gln2348Ter) c.7027C>T (p.Gln2343Ter) c.6982C>T (p.Gln2328Ter) c.6964C>T (p.Gln2322Ter) c.6961C>T (p.Gln2321Ter) c.6946C>T (p.Gln2316Ter) c.6919C>T (p.Gln2307Ter) c.6904C>T (p.Gln2302Ter) c.6925C>T (p.Gln2309Ter) c.6901C>T (p.Gln2301Ter) | |
9 | g.128632308A>C | CA375099047 | SPTAN1 | c.6980A>C (p.Gln2327Pro) c.7007A>C (p.Gln2336Pro) c.7031A>C (p.Gln2344Pro) c.6470A>C (p.Gln2157Pro) c.4549A>C c.2886A>C c.6944A>C (p.Gln2315Pro) n.668A>C c.6869A>C (p.Gln2290Pro) c.6929A>C (p.Gln2310Pro) n.898A>C n.701A>C c.6884A>C (p.Gln2295Pro) c.7043A>C (p.Gln2348Pro) c.7028A>C (p.Gln2343Pro) c.6983A>C (p.Gln2328Pro) c.6965A>C (p.Gln2322Pro) c.6962A>C (p.Gln2321Pro) c.6947A>C (p.Gln2316Pro) c.6920A>C (p.Gln2307Pro) c.6905A>C (p.Gln2302Pro) c.6926A>C (p.Gln2309Pro) c.6902A>C (p.Gln2301Pro) | |
9 | g.128632308A>G | CA375099053 | SPTAN1 | c.6980A>G (p.Gln2327Arg) c.7007A>G (p.Gln2336Arg) c.7031A>G (p.Gln2344Arg) c.6470A>G (p.Gln2157Arg) c.4549A>G c.2886A>G c.6944A>G (p.Gln2315Arg) n.668A>G c.6869A>G (p.Gln2290Arg) c.6929A>G (p.Gln2310Arg) n.898A>G n.701A>G c.6884A>G (p.Gln2295Arg) c.7043A>G (p.Gln2348Arg) c.7028A>G (p.Gln2343Arg) c.6983A>G (p.Gln2328Arg) c.6965A>G (p.Gln2322Arg) c.6962A>G (p.Gln2321Arg) c.6947A>G (p.Gln2316Arg) c.6920A>G (p.Gln2307Arg) c.6905A>G (p.Gln2302Arg) c.6926A>G (p.Gln2309Arg) c.6902A>G (p.Gln2301Arg) | |
9 | g.128632308A>T | CA375099054 | SPTAN1 | c.6980A>T (p.Gln2327Leu) c.7007A>T (p.Gln2336Leu) c.7031A>T (p.Gln2344Leu) c.6470A>T (p.Gln2157Leu) c.4549A>T c.2886A>T c.6944A>T (p.Gln2315Leu) n.668A>T c.6869A>T (p.Gln2290Leu) c.6929A>T (p.Gln2310Leu) n.898A>T n.701A>T c.6884A>T (p.Gln2295Leu) c.7043A>T (p.Gln2348Leu) c.7028A>T (p.Gln2343Leu) c.6983A>T (p.Gln2328Leu) c.6965A>T (p.Gln2322Leu) c.6962A>T (p.Gln2321Leu) c.6947A>T (p.Gln2316Leu) c.6920A>T (p.Gln2307Leu) c.6905A>T (p.Gln2302Leu) c.6926A>T (p.Gln2309Leu) c.6902A>T (p.Gln2301Leu) | |
9 | g.128632309G>A | CA467484996 | SPTAN1 | c.6981G>A (p.Gln2327=) c.7008G>A (p.Gln2336=) c.7032G>A (p.Gln2344=) c.6471G>A (p.Gln2157=) c.4550G>A c.2887G>A c.6945G>A (p.Gln2315=) n.669G>A c.6870G>A (p.Gln2290=) c.6930G>A (p.Gln2310=) n.899G>A n.702G>A c.6885G>A (p.Gln2295=) c.7044G>A (p.Gln2348=) c.7029G>A (p.Gln2343=) c.6984G>A (p.Gln2328=) c.6966G>A (p.Gln2322=) c.6963G>A (p.Gln2321=) c.6948G>A (p.Gln2316=) c.6921G>A (p.Gln2307=) c.6906G>A (p.Gln2302=) c.6927G>A (p.Gln2309=) c.6903G>A (p.Gln2301=) | |
9 | g.128632309G>C | CA375099055 | SPTAN1 | c.6981G>C (p.Gln2327His) c.7008G>C (p.Gln2336His) c.7032G>C (p.Gln2344His) c.6471G>C (p.Gln2157His) c.4550G>C c.2887G>C c.6945G>C (p.Gln2315His) n.669G>C c.6870G>C (p.Gln2290His) c.6930G>C (p.Gln2310His) n.899G>C n.702G>C c.6885G>C (p.Gln2295His) c.7044G>C (p.Gln2348His) c.7029G>C (p.Gln2343His) c.6984G>C (p.Gln2328His) c.6966G>C (p.Gln2322His) c.6963G>C (p.Gln2321His) c.6948G>C (p.Gln2316His) c.6921G>C (p.Gln2307His) c.6906G>C (p.Gln2302His) c.6927G>C (p.Gln2309His) c.6903G>C (p.Gln2301His) | |
9 | g.128632309G>T | CA375099058 | SPTAN1 | c.6981G>T (p.Gln2327His) c.7008G>T (p.Gln2336His) c.7032G>T (p.Gln2344His) c.6471G>T (p.Gln2157His) c.4550G>T c.2887G>T c.6945G>T (p.Gln2315His) n.669G>T c.6870G>T (p.Gln2290His) c.6930G>T (p.Gln2310His) n.899G>T n.702G>T c.6885G>T (p.Gln2295His) c.7044G>T (p.Gln2348His) c.7029G>T (p.Gln2343His) c.6984G>T (p.Gln2328His) c.6966G>T (p.Gln2322His) c.6963G>T (p.Gln2321His) c.6948G>T (p.Gln2316His) c.6921G>T (p.Gln2307His) c.6906G>T (p.Gln2302His) c.6927G>T (p.Gln2309His) c.6903G>T (p.Gln2301His) | |
9 | g.128632310C>A | CA375099066 | SPTAN1 | c.6982C>A (p.Gln2328Lys) c.7009C>A (p.Gln2337Lys) c.7033C>A (p.Gln2345Lys) c.6472C>A (p.Gln2158Lys) c.4551C>A c.2888C>A c.6946C>A (p.Gln2316Lys) n.670C>A c.6871C>A (p.Gln2291Lys) c.6931C>A (p.Gln2311Lys) n.900C>A n.703C>A c.6886C>A (p.Gln2296Lys) c.7045C>A (p.Gln2349Lys) c.7030C>A (p.Gln2344Lys) c.6985C>A (p.Gln2329Lys) c.6967C>A (p.Gln2323Lys) c.6964C>A (p.Gln2322Lys) c.6949C>A (p.Gln2317Lys) c.6922C>A (p.Gln2308Lys) c.6907C>A (p.Gln2303Lys) c.6928C>A (p.Gln2310Lys) c.6904C>A (p.Gln2302Lys) | |
9 | g.128632310C>G | CA375099088 | SPTAN1 | c.6982C>G (p.Gln2328Glu) c.7009C>G (p.Gln2337Glu) c.7033C>G (p.Gln2345Glu) c.6472C>G (p.Gln2158Glu) c.4551C>G c.2888C>G c.6946C>G (p.Gln2316Glu) n.670C>G c.6871C>G (p.Gln2291Glu) c.6931C>G (p.Gln2311Glu) n.900C>G n.703C>G c.6886C>G (p.Gln2296Glu) c.7045C>G (p.Gln2349Glu) c.7030C>G (p.Gln2344Glu) c.6985C>G (p.Gln2329Glu) c.6967C>G (p.Gln2323Glu) c.6964C>G (p.Gln2322Glu) c.6949C>G (p.Gln2317Glu) c.6922C>G (p.Gln2308Glu) c.6907C>G (p.Gln2303Glu) c.6928C>G (p.Gln2310Glu) c.6904C>G (p.Gln2302Glu) | |
9 | g.128632310C>T | CA375099094 | SPTAN1 | c.6982C>T (p.Gln2328Ter) c.7009C>T (p.Gln2337Ter) c.7033C>T (p.Gln2345Ter) c.6472C>T (p.Gln2158Ter) c.4551C>T c.2888C>T c.6946C>T (p.Gln2316Ter) n.670C>T c.6871C>T (p.Gln2291Ter) c.6931C>T (p.Gln2311Ter) n.900C>T n.703C>T c.6886C>T (p.Gln2296Ter) c.7045C>T (p.Gln2349Ter) c.7030C>T (p.Gln2344Ter) c.6985C>T (p.Gln2329Ter) c.6967C>T (p.Gln2323Ter) c.6964C>T (p.Gln2322Ter) c.6949C>T (p.Gln2317Ter) c.6922C>T (p.Gln2308Ter) c.6907C>T (p.Gln2303Ter) c.6928C>T (p.Gln2310Ter) c.6904C>T (p.Gln2302Ter) | gnomAD v4 |
9 | g.128632311A>C | CA375099095 | SPTAN1 | c.6983A>C (p.Gln2328Pro) c.7010A>C (p.Gln2337Pro) c.7034A>C (p.Gln2345Pro) c.6473A>C (p.Gln2158Pro) c.4552A>C c.2889A>C c.6947A>C (p.Gln2316Pro) n.671A>C c.6872A>C (p.Gln2291Pro) c.6932A>C (p.Gln2311Pro) n.901A>C n.704A>C c.6887A>C (p.Gln2296Pro) c.7046A>C (p.Gln2349Pro) c.7031A>C (p.Gln2344Pro) c.6986A>C (p.Gln2329Pro) c.6968A>C (p.Gln2323Pro) c.6965A>C (p.Gln2322Pro) c.6950A>C (p.Gln2317Pro) c.6923A>C (p.Gln2308Pro) c.6908A>C (p.Gln2303Pro) c.6929A>C (p.Gln2310Pro) c.6905A>C (p.Gln2302Pro) | |
9 | g.128632311A>G | CA375099103 | SPTAN1 | c.6983A>G (p.Gln2328Arg) c.7010A>G (p.Gln2337Arg) c.7034A>G (p.Gln2345Arg) c.6473A>G (p.Gln2158Arg) c.4552A>G c.2889A>G c.6947A>G (p.Gln2316Arg) n.671A>G c.6872A>G (p.Gln2291Arg) c.6932A>G (p.Gln2311Arg) n.901A>G n.704A>G c.6887A>G (p.Gln2296Arg) c.7046A>G (p.Gln2349Arg) c.7031A>G (p.Gln2344Arg) c.6986A>G (p.Gln2329Arg) c.6968A>G (p.Gln2323Arg) c.6965A>G (p.Gln2322Arg) c.6950A>G (p.Gln2317Arg) c.6923A>G (p.Gln2308Arg) c.6908A>G (p.Gln2303Arg) c.6929A>G (p.Gln2310Arg) c.6905A>G (p.Gln2302Arg) | |
9 | g.128632311A>T | CA375099106 | SPTAN1 | c.6983A>T (p.Gln2328Leu) c.7010A>T (p.Gln2337Leu) c.7034A>T (p.Gln2345Leu) c.6473A>T (p.Gln2158Leu) c.4552A>T c.2889A>T c.6947A>T (p.Gln2316Leu) n.671A>T c.6872A>T (p.Gln2291Leu) c.6932A>T (p.Gln2311Leu) n.901A>T n.704A>T c.6887A>T (p.Gln2296Leu) c.7046A>T (p.Gln2349Leu) c.7031A>T (p.Gln2344Leu) c.6986A>T (p.Gln2329Leu) c.6968A>T (p.Gln2323Leu) c.6965A>T (p.Gln2322Leu) c.6950A>T (p.Gln2317Leu) c.6923A>T (p.Gln2308Leu) c.6908A>T (p.Gln2303Leu) c.6929A>T (p.Gln2310Leu) c.6905A>T (p.Gln2302Leu) | |
9 | g.128632312G>A | CA467484997 | SPTAN1 | c.6984G>A (p.Gln2328=) c.7011G>A (p.Gln2337=) c.7035G>A (p.Gln2345=) c.6474G>A (p.Gln2158=) c.4553G>A c.2890G>A c.6948G>A (p.Gln2316=) n.672G>A c.6873G>A (p.Gln2291=) c.6933G>A (p.Gln2311=) n.902G>A n.705G>A c.6888G>A (p.Gln2296=) c.7047G>A (p.Gln2349=) c.7032G>A (p.Gln2344=) c.6987G>A (p.Gln2329=) c.6969G>A (p.Gln2323=) c.6966G>A (p.Gln2322=) c.6951G>A (p.Gln2317=) c.6924G>A (p.Gln2308=) c.6909G>A (p.Gln2303=) c.6930G>A (p.Gln2310=) c.6906G>A (p.Gln2302=) | ClinVar dbSNP gnomAD v4 |
9 | g.128632312G>C | CA375099127 | SPTAN1 | c.6984G>C (p.Gln2328His) c.7011G>C (p.Gln2337His) c.7035G>C (p.Gln2345His) c.6474G>C (p.Gln2158His) c.4553G>C c.2890G>C c.6948G>C (p.Gln2316His) n.672G>C c.6873G>C (p.Gln2291His) c.6933G>C (p.Gln2311His) n.902G>C n.705G>C c.6888G>C (p.Gln2296His) c.7047G>C (p.Gln2349His) c.7032G>C (p.Gln2344His) c.6987G>C (p.Gln2329His) c.6969G>C (p.Gln2323His) c.6966G>C (p.Gln2322His) c.6951G>C (p.Gln2317His) c.6924G>C (p.Gln2308His) c.6909G>C (p.Gln2303His) c.6930G>C (p.Gln2310His) c.6906G>C (p.Gln2302His) | |
9 | g.128632312G= | CA1880371278 | SPTAN1 | c.6984G= (p.Gln2328=) c.7011G= (p.Gln2337=) c.7035G= (p.Gln2345=) c.6474G= (p.Gln2158=) c.4553G= c.2890G= c.6948G= (p.Gln2316=) n.672G= c.6873G= (p.Gln2291=) c.6933G= (p.Gln2311=) n.902G= n.705G= c.6888G= (p.Gln2296=) c.7047G= (p.Gln2349=) c.7032G= (p.Gln2344=) c.6987G= (p.Gln2329=) c.6969G= (p.Gln2323=) c.6966G= (p.Gln2322=) c.6951G= (p.Gln2317=) c.6924G= (p.Gln2308=) c.6909G= (p.Gln2303=) c.6930G= (p.Gln2310=) c.6906G= (p.Gln2302=) | |
9 | g.128632312G>T | CA375099130 | SPTAN1 | c.6984G>T (p.Gln2328His) c.7011G>T (p.Gln2337His) c.7035G>T (p.Gln2345His) c.6474G>T (p.Gln2158His) c.4553G>T c.2890G>T c.6948G>T (p.Gln2316His) n.672G>T c.6873G>T (p.Gln2291His) c.6933G>T (p.Gln2311His) n.902G>T n.705G>T c.6888G>T (p.Gln2296His) c.7047G>T (p.Gln2349His) c.7032G>T (p.Gln2344His) c.6987G>T (p.Gln2329His) c.6969G>T (p.Gln2323His) c.6966G>T (p.Gln2322His) c.6951G>T (p.Gln2317His) c.6924G>T (p.Gln2308His) c.6909G>T (p.Gln2303His) c.6930G>T (p.Gln2310His) c.6906G>T (p.Gln2302His) | |
9 | g.128632313A>C | CA375099140 | SPTAN1 | c.6985A>C (p.Ile2329Leu) c.7012A>C (p.Ile2338Leu) c.7036A>C (p.Ile2346Leu) c.6475A>C (p.Ile2159Leu) c.4554A>C c.2891A>C c.6949A>C (p.Ile2317Leu) n.673A>C c.6874A>C (p.Ile2292Leu) c.6934A>C (p.Ile2312Leu) n.903A>C n.706A>C c.6889A>C (p.Ile2297Leu) c.7048A>C (p.Ile2350Leu) c.7033A>C (p.Ile2345Leu) c.6988A>C (p.Ile2330Leu) c.6970A>C (p.Ile2324Leu) c.6967A>C (p.Ile2323Leu) c.6952A>C (p.Ile2318Leu) c.6925A>C (p.Ile2309Leu) c.6910A>C (p.Ile2304Leu) c.6931A>C (p.Ile2311Leu) c.6907A>C (p.Ile2303Leu) | |
9 | g.128632313A>G | CA375099142 | SPTAN1 | c.6985A>G (p.Ile2329Val) c.7012A>G (p.Ile2338Val) c.7036A>G (p.Ile2346Val) c.6475A>G (p.Ile2159Val) c.4554A>G c.2891A>G c.6949A>G (p.Ile2317Val) n.673A>G c.6874A>G (p.Ile2292Val) c.6934A>G (p.Ile2312Val) n.903A>G n.706A>G c.6889A>G (p.Ile2297Val) c.7048A>G (p.Ile2350Val) c.7033A>G (p.Ile2345Val) c.6988A>G (p.Ile2330Val) c.6970A>G (p.Ile2324Val) c.6967A>G (p.Ile2323Val) c.6952A>G (p.Ile2318Val) c.6925A>G (p.Ile2309Val) c.6910A>G (p.Ile2304Val) c.6931A>G (p.Ile2311Val) c.6907A>G (p.Ile2303Val) | |
9 | g.128632313A>T | CA375099143 | SPTAN1 | c.6985A>T (p.Ile2329Phe) c.7012A>T (p.Ile2338Phe) c.7036A>T (p.Ile2346Phe) c.6475A>T (p.Ile2159Phe) c.4554A>T c.2891A>T c.6949A>T (p.Ile2317Phe) n.673A>T c.6874A>T (p.Ile2292Phe) c.6934A>T (p.Ile2312Phe) n.903A>T n.706A>T c.6889A>T (p.Ile2297Phe) c.7048A>T (p.Ile2350Phe) c.7033A>T (p.Ile2345Phe) c.6988A>T (p.Ile2330Phe) c.6970A>T (p.Ile2324Phe) c.6967A>T (p.Ile2323Phe) c.6952A>T (p.Ile2318Phe) c.6925A>T (p.Ile2309Phe) c.6910A>T (p.Ile2304Phe) c.6931A>T (p.Ile2311Phe) c.6907A>T (p.Ile2303Phe) | |
9 | g.128632314T>A | CA375099146 | SPTAN1 | c.6986T>A (p.Ile2329Asn) c.7013T>A (p.Ile2338Asn) c.7037T>A (p.Ile2346Asn) c.6476T>A (p.Ile2159Asn) c.4555T>A c.2892T>A c.6950T>A (p.Ile2317Asn) n.674T>A c.6875T>A (p.Ile2292Asn) c.6935T>A (p.Ile2312Asn) n.904T>A n.707T>A c.6890T>A (p.Ile2297Asn) c.7049T>A (p.Ile2350Asn) c.7034T>A (p.Ile2345Asn) c.6989T>A (p.Ile2330Asn) c.6971T>A (p.Ile2324Asn) c.6968T>A (p.Ile2323Asn) c.6953T>A (p.Ile2318Asn) c.6926T>A (p.Ile2309Asn) c.6911T>A (p.Ile2304Asn) c.6932T>A (p.Ile2311Asn) c.6908T>A (p.Ile2303Asn) | |
9 | g.128632314T>C | CA375099150 | SPTAN1 | c.6986T>C (p.Ile2329Thr) c.7013T>C (p.Ile2338Thr) c.7037T>C (p.Ile2346Thr) c.6476T>C (p.Ile2159Thr) c.4555T>C c.2892T>C c.6950T>C (p.Ile2317Thr) n.674T>C c.6875T>C (p.Ile2292Thr) c.6935T>C (p.Ile2312Thr) n.904T>C n.707T>C c.6890T>C (p.Ile2297Thr) c.7049T>C (p.Ile2350Thr) c.7034T>C (p.Ile2345Thr) c.6989T>C (p.Ile2330Thr) c.6971T>C (p.Ile2324Thr) c.6968T>C (p.Ile2323Thr) c.6953T>C (p.Ile2318Thr) c.6926T>C (p.Ile2309Thr) c.6911T>C (p.Ile2304Thr) c.6932T>C (p.Ile2311Thr) c.6908T>C (p.Ile2303Thr) | |
9 | g.128632314T>G | CA375099185 | SPTAN1 | c.6986T>G (p.Ile2329Ser) c.7013T>G (p.Ile2338Ser) c.7037T>G (p.Ile2346Ser) c.6476T>G (p.Ile2159Ser) c.4555T>G c.2892T>G c.6950T>G (p.Ile2317Ser) n.674T>G c.6875T>G (p.Ile2292Ser) c.6935T>G (p.Ile2312Ser) n.904T>G n.707T>G c.6890T>G (p.Ile2297Ser) c.7049T>G (p.Ile2350Ser) c.7034T>G (p.Ile2345Ser) c.6989T>G (p.Ile2330Ser) c.6971T>G (p.Ile2324Ser) c.6968T>G (p.Ile2323Ser) c.6953T>G (p.Ile2318Ser) c.6926T>G (p.Ile2309Ser) c.6911T>G (p.Ile2304Ser) c.6932T>G (p.Ile2311Ser) c.6908T>G (p.Ile2303Ser) | |
9 | g.128632315C>A | CA467485000 | SPTAN1 | c.6987C>A (p.Ile2329=) c.7014C>A (p.Ile2338=) c.7038C>A (p.Ile2346=) c.6477C>A (p.Ile2159=) c.4556C>A c.2893C>A c.6951C>A (p.Ile2317=) n.675C>A c.6876C>A (p.Ile2292=) c.6936C>A (p.Ile2312=) n.905C>A n.708C>A c.6891C>A (p.Ile2297=) c.7050C>A (p.Ile2350=) c.7035C>A (p.Ile2345=) c.6990C>A (p.Ile2330=) c.6972C>A (p.Ile2324=) c.6969C>A (p.Ile2323=) c.6954C>A (p.Ile2318=) c.6927C>A (p.Ile2309=) c.6912C>A (p.Ile2304=) c.6933C>A (p.Ile2311=) c.6909C>A (p.Ile2303=) | |
9 | g.128632315C= | CA1880371279 | SPTAN1 | c.6987C= (p.Ile2329=) c.7014C= (p.Ile2338=) c.7038C= (p.Ile2346=) c.6477C= (p.Ile2159=) c.4556C= c.2893C= c.6951C= (p.Ile2317=) n.675C= c.6876C= (p.Ile2292=) c.6936C= (p.Ile2312=) n.905C= n.708C= c.6891C= (p.Ile2297=) c.7050C= (p.Ile2350=) c.7035C= (p.Ile2345=) c.6990C= (p.Ile2330=) c.6972C= (p.Ile2324=) c.6969C= (p.Ile2323=) c.6954C= (p.Ile2318=) c.6927C= (p.Ile2309=) c.6912C= (p.Ile2304=) c.6933C= (p.Ile2311=) c.6909C= (p.Ile2303=) | |
9 | g.128632315C>G | CA375099186 | SPTAN1 | c.6987C>G (p.Ile2329Met) c.7014C>G (p.Ile2338Met) c.7038C>G (p.Ile2346Met) c.6477C>G (p.Ile2159Met) c.4556C>G c.2893C>G c.6951C>G (p.Ile2317Met) n.675C>G c.6876C>G (p.Ile2292Met) c.6936C>G (p.Ile2312Met) n.905C>G n.708C>G c.6891C>G (p.Ile2297Met) c.7050C>G (p.Ile2350Met) c.7035C>G (p.Ile2345Met) c.6990C>G (p.Ile2330Met) c.6972C>G (p.Ile2324Met) c.6969C>G (p.Ile2323Met) c.6954C>G (p.Ile2318Met) c.6927C>G (p.Ile2309Met) c.6912C>G (p.Ile2304Met) c.6933C>G (p.Ile2311Met) c.6909C>G (p.Ile2303Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632315C>T | CA5265931 | SPTAN1 | c.6987C>T (p.Ile2329=) c.7014C>T (p.Ile2338=) c.7038C>T (p.Ile2346=) c.6477C>T (p.Ile2159=) c.4556C>T c.2893C>T c.6951C>T (p.Ile2317=) n.675C>T c.6876C>T (p.Ile2292=) c.6936C>T (p.Ile2312=) n.905C>T n.708C>T c.6891C>T (p.Ile2297=) c.7050C>T (p.Ile2350=) c.7035C>T (p.Ile2345=) c.6990C>T (p.Ile2330=) c.6972C>T (p.Ile2324=) c.6969C>T (p.Ile2323=) c.6954C>T (p.Ile2318=) c.6927C>T (p.Ile2309=) c.6912C>T (p.Ile2304=) c.6933C>T (p.Ile2311=) c.6909C>T (p.Ile2303=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632316C>A | CA375099194 | SPTAN1 | c.6988C>A (p.Gln2330Lys) c.7015C>A (p.Gln2339Lys) c.7039C>A (p.Gln2347Lys) c.6478C>A (p.Gln2160Lys) c.4557C>A c.2894C>A c.6952C>A (p.Gln2318Lys) n.676C>A c.6877C>A (p.Gln2293Lys) c.6937C>A (p.Gln2313Lys) n.906C>A n.709C>A c.6892C>A (p.Gln2298Lys) c.7051C>A (p.Gln2351Lys) c.7036C>A (p.Gln2346Lys) c.6991C>A (p.Gln2331Lys) c.6973C>A (p.Gln2325Lys) c.6970C>A (p.Gln2324Lys) c.6955C>A (p.Gln2319Lys) c.6928C>A (p.Gln2310Lys) c.6913C>A (p.Gln2305Lys) c.6934C>A (p.Gln2312Lys) c.6910C>A (p.Gln2304Lys) | dbSNP gnomAD v2 |
9 | g.128632316C= | CA1880371280 | SPTAN1 | c.6988C= (p.Gln2330=) c.7015C= (p.Gln2339=) c.7039C= (p.Gln2347=) c.6478C= (p.Gln2160=) c.4557C= c.2894C= c.6952C= (p.Gln2318=) n.676C= c.6877C= (p.Gln2293=) c.6937C= (p.Gln2313=) n.906C= n.709C= c.6892C= (p.Gln2298=) c.7051C= (p.Gln2351=) c.7036C= (p.Gln2346=) c.6991C= (p.Gln2331=) c.6973C= (p.Gln2325=) c.6970C= (p.Gln2324=) c.6955C= (p.Gln2319=) c.6928C= (p.Gln2310=) c.6913C= (p.Gln2305=) c.6934C= (p.Gln2312=) c.6910C= (p.Gln2304=) | |
9 | g.128632316C>G | CA375099221 | SPTAN1 | c.6988C>G (p.Gln2330Glu) c.7015C>G (p.Gln2339Glu) c.7039C>G (p.Gln2347Glu) c.6478C>G (p.Gln2160Glu) c.4557C>G c.2894C>G c.6952C>G (p.Gln2318Glu) n.676C>G c.6877C>G (p.Gln2293Glu) c.6937C>G (p.Gln2313Glu) n.906C>G n.709C>G c.6892C>G (p.Gln2298Glu) c.7051C>G (p.Gln2351Glu) c.7036C>G (p.Gln2346Glu) c.6991C>G (p.Gln2331Glu) c.6973C>G (p.Gln2325Glu) c.6970C>G (p.Gln2324Glu) c.6955C>G (p.Gln2319Glu) c.6928C>G (p.Gln2310Glu) c.6913C>G (p.Gln2305Glu) c.6934C>G (p.Gln2312Glu) c.6910C>G (p.Gln2304Glu) | |
9 | g.128632316C>T | CA375099228 | SPTAN1 | c.6988C>T (p.Gln2330Ter) c.7015C>T (p.Gln2339Ter) c.7039C>T (p.Gln2347Ter) c.6478C>T (p.Gln2160Ter) c.4557C>T c.2894C>T c.6952C>T (p.Gln2318Ter) n.676C>T c.6877C>T (p.Gln2293Ter) c.6937C>T (p.Gln2313Ter) n.906C>T n.709C>T c.6892C>T (p.Gln2298Ter) c.7051C>T (p.Gln2351Ter) c.7036C>T (p.Gln2346Ter) c.6991C>T (p.Gln2331Ter) c.6973C>T (p.Gln2325Ter) c.6970C>T (p.Gln2324Ter) c.6955C>T (p.Gln2319Ter) c.6928C>T (p.Gln2310Ter) c.6913C>T (p.Gln2305Ter) c.6934C>T (p.Gln2312Ter) c.6910C>T (p.Gln2304Ter) | |
9 | g.128632317A>C | CA375099233 | SPTAN1 | c.6989A>C (p.Gln2330Pro) c.7016A>C (p.Gln2339Pro) c.7040A>C (p.Gln2347Pro) c.6479A>C (p.Gln2160Pro) c.4558A>C c.2895A>C c.6953A>C (p.Gln2318Pro) n.677A>C c.6878A>C (p.Gln2293Pro) c.6938A>C (p.Gln2313Pro) n.907A>C n.710A>C c.6893A>C (p.Gln2298Pro) c.7052A>C (p.Gln2351Pro) c.7037A>C (p.Gln2346Pro) c.6992A>C (p.Gln2331Pro) c.6974A>C (p.Gln2325Pro) c.6971A>C (p.Gln2324Pro) c.6956A>C (p.Gln2319Pro) c.6929A>C (p.Gln2310Pro) c.6914A>C (p.Gln2305Pro) c.6935A>C (p.Gln2312Pro) c.6911A>C (p.Gln2304Pro) | |
9 | g.128632317A>G | CA375099235 | SPTAN1 | c.6989A>G (p.Gln2330Arg) c.7016A>G (p.Gln2339Arg) c.7040A>G (p.Gln2347Arg) c.6479A>G (p.Gln2160Arg) c.4558A>G c.2895A>G c.6953A>G (p.Gln2318Arg) n.677A>G c.6878A>G (p.Gln2293Arg) c.6938A>G (p.Gln2313Arg) n.907A>G n.710A>G c.6893A>G (p.Gln2298Arg) c.7052A>G (p.Gln2351Arg) c.7037A>G (p.Gln2346Arg) c.6992A>G (p.Gln2331Arg) c.6974A>G (p.Gln2325Arg) c.6971A>G (p.Gln2324Arg) c.6956A>G (p.Gln2319Arg) c.6929A>G (p.Gln2310Arg) c.6914A>G (p.Gln2305Arg) c.6935A>G (p.Gln2312Arg) c.6911A>G (p.Gln2304Arg) | |
9 | g.128632317A>T | CA375099236 | SPTAN1 | c.6989A>T (p.Gln2330Leu) c.7016A>T (p.Gln2339Leu) c.7040A>T (p.Gln2347Leu) c.6479A>T (p.Gln2160Leu) c.4558A>T c.2895A>T c.6953A>T (p.Gln2318Leu) n.677A>T c.6878A>T (p.Gln2293Leu) c.6938A>T (p.Gln2313Leu) n.907A>T n.710A>T c.6893A>T (p.Gln2298Leu) c.7052A>T (p.Gln2351Leu) c.7037A>T (p.Gln2346Leu) c.6992A>T (p.Gln2331Leu) c.6974A>T (p.Gln2325Leu) c.6971A>T (p.Gln2324Leu) c.6956A>T (p.Gln2319Leu) c.6929A>T (p.Gln2310Leu) c.6914A>T (p.Gln2305Leu) c.6935A>T (p.Gln2312Leu) c.6911A>T (p.Gln2304Leu) | |
9 | g.128632318G>A | CA467485002 | SPTAN1 | c.6990G>A (p.Gln2330=) c.7017G>A (p.Gln2339=) c.7041G>A (p.Gln2347=) c.6480G>A (p.Gln2160=) c.4559G>A c.2896G>A c.6954G>A (p.Gln2318=) n.678G>A c.6879G>A (p.Gln2293=) c.6939G>A (p.Gln2313=) n.908G>A n.711G>A c.6894G>A (p.Gln2298=) c.7053G>A (p.Gln2351=) c.7038G>A (p.Gln2346=) c.6993G>A (p.Gln2331=) c.6975G>A (p.Gln2325=) c.6972G>A (p.Gln2324=) c.6957G>A (p.Gln2319=) c.6930G>A (p.Gln2310=) c.6915G>A (p.Gln2305=) c.6936G>A (p.Gln2312=) c.6912G>A (p.Gln2304=) | |
9 | g.128632318G>C | CA375099241 | SPTAN1 | c.6990G>C (p.Gln2330His) c.7017G>C (p.Gln2339His) c.7041G>C (p.Gln2347His) c.6480G>C (p.Gln2160His) c.4559G>C c.2896G>C c.6954G>C (p.Gln2318His) n.678G>C c.6879G>C (p.Gln2293His) c.6939G>C (p.Gln2313His) n.908G>C n.711G>C c.6894G>C (p.Gln2298His) c.7053G>C (p.Gln2351His) c.7038G>C (p.Gln2346His) c.6993G>C (p.Gln2331His) c.6975G>C (p.Gln2325His) c.6972G>C (p.Gln2324His) c.6957G>C (p.Gln2319His) c.6930G>C (p.Gln2310His) c.6915G>C (p.Gln2305His) c.6936G>C (p.Gln2312His) c.6912G>C (p.Gln2304His) | |
9 | g.128632318G>T | CA375099245 | SPTAN1 | c.6990G>T (p.Gln2330His) c.7017G>T (p.Gln2339His) c.7041G>T (p.Gln2347His) c.6480G>T (p.Gln2160His) c.4559G>T c.2896G>T c.6954G>T (p.Gln2318His) n.678G>T c.6879G>T (p.Gln2293His) c.6939G>T (p.Gln2313His) n.908G>T n.711G>T c.6894G>T (p.Gln2298His) c.7053G>T (p.Gln2351His) c.7038G>T (p.Gln2346His) c.6993G>T (p.Gln2331His) c.6975G>T (p.Gln2325His) c.6972G>T (p.Gln2324His) c.6957G>T (p.Gln2319His) c.6930G>T (p.Gln2310His) c.6915G>T (p.Gln2305His) c.6936G>T (p.Gln2312His) c.6912G>T (p.Gln2304His) | |
9 | g.128632319G>A | CA375099247 | SPTAN1 | c.6991G>A (p.Ala2331Thr) c.7018G>A (p.Ala2340Thr) c.7042G>A (p.Ala2348Thr) c.6481G>A (p.Ala2161Thr) c.4560G>A c.2897G>A c.6955G>A (p.Ala2319Thr) n.679G>A c.6880G>A (p.Ala2294Thr) c.6940G>A (p.Ala2314Thr) n.909G>A n.712G>A c.6895G>A (p.Ala2299Thr) c.7054G>A (p.Ala2352Thr) c.7039G>A (p.Ala2347Thr) c.6994G>A (p.Ala2332Thr) c.6976G>A (p.Ala2326Thr) c.6973G>A (p.Ala2325Thr) c.6958G>A (p.Ala2320Thr) c.6931G>A (p.Ala2311Thr) c.6916G>A (p.Ala2306Thr) c.6937G>A (p.Ala2313Thr) c.6913G>A (p.Ala2305Thr) | |
9 | g.128632319G>C | CA375099250 | SPTAN1 | c.6991G>C (p.Ala2331Pro) c.7018G>C (p.Ala2340Pro) c.7042G>C (p.Ala2348Pro) c.6481G>C (p.Ala2161Pro) c.4560G>C c.2897G>C c.6955G>C (p.Ala2319Pro) n.679G>C c.6880G>C (p.Ala2294Pro) c.6940G>C (p.Ala2314Pro) n.909G>C n.712G>C c.6895G>C (p.Ala2299Pro) c.7054G>C (p.Ala2352Pro) c.7039G>C (p.Ala2347Pro) c.6994G>C (p.Ala2332Pro) c.6976G>C (p.Ala2326Pro) c.6973G>C (p.Ala2325Pro) c.6958G>C (p.Ala2320Pro) c.6931G>C (p.Ala2311Pro) c.6916G>C (p.Ala2306Pro) c.6937G>C (p.Ala2313Pro) c.6913G>C (p.Ala2305Pro) | |
9 | g.128632319G>T | CA375099252 | SPTAN1 | c.6991G>T (p.Ala2331Ser) c.7018G>T (p.Ala2340Ser) c.7042G>T (p.Ala2348Ser) c.6481G>T (p.Ala2161Ser) c.4560G>T c.2897G>T c.6955G>T (p.Ala2319Ser) n.679G>T c.6880G>T (p.Ala2294Ser) c.6940G>T (p.Ala2314Ser) n.909G>T n.712G>T c.6895G>T (p.Ala2299Ser) c.7054G>T (p.Ala2352Ser) c.7039G>T (p.Ala2347Ser) c.6994G>T (p.Ala2332Ser) c.6976G>T (p.Ala2326Ser) c.6973G>T (p.Ala2325Ser) c.6958G>T (p.Ala2320Ser) c.6931G>T (p.Ala2311Ser) c.6916G>T (p.Ala2306Ser) c.6937G>T (p.Ala2313Ser) c.6913G>T (p.Ala2305Ser) | |
9 | g.128632320C>A | CA375099254 | SPTAN1 | c.6992C>A (p.Ala2331Asp) c.7019C>A (p.Ala2340Asp) c.7043C>A (p.Ala2348Asp) c.6482C>A (p.Ala2161Asp) c.4561C>A c.2898C>A c.6956C>A (p.Ala2319Asp) n.680C>A c.6881C>A (p.Ala2294Asp) c.6941C>A (p.Ala2314Asp) n.910C>A n.713C>A c.6896C>A (p.Ala2299Asp) c.7055C>A (p.Ala2352Asp) c.7040C>A (p.Ala2347Asp) c.6995C>A (p.Ala2332Asp) c.6977C>A (p.Ala2326Asp) c.6974C>A (p.Ala2325Asp) c.6959C>A (p.Ala2320Asp) c.6932C>A (p.Ala2311Asp) c.6917C>A (p.Ala2306Asp) c.6938C>A (p.Ala2313Asp) c.6914C>A (p.Ala2305Asp) | ClinVar dbSNP |
9 | g.128632320C>G | CA375099256 | SPTAN1 | c.6992C>G (p.Ala2331Gly) c.7019C>G (p.Ala2340Gly) c.7043C>G (p.Ala2348Gly) c.6482C>G (p.Ala2161Gly) c.4561C>G c.2898C>G c.6956C>G (p.Ala2319Gly) n.680C>G c.6881C>G (p.Ala2294Gly) c.6941C>G (p.Ala2314Gly) n.910C>G n.713C>G c.6896C>G (p.Ala2299Gly) c.7055C>G (p.Ala2352Gly) c.7040C>G (p.Ala2347Gly) c.6995C>G (p.Ala2332Gly) c.6977C>G (p.Ala2326Gly) c.6974C>G (p.Ala2325Gly) c.6959C>G (p.Ala2320Gly) c.6932C>G (p.Ala2311Gly) c.6917C>G (p.Ala2306Gly) c.6938C>G (p.Ala2313Gly) c.6914C>G (p.Ala2305Gly) | |
9 | g.128632320C>T | CA375099261 | SPTAN1 | c.6992C>T (p.Ala2331Val) c.7019C>T (p.Ala2340Val) c.7043C>T (p.Ala2348Val) c.6482C>T (p.Ala2161Val) c.4561C>T c.2898C>T c.6956C>T (p.Ala2319Val) n.680C>T c.6881C>T (p.Ala2294Val) c.6941C>T (p.Ala2314Val) n.910C>T n.713C>T c.6896C>T (p.Ala2299Val) c.7055C>T (p.Ala2352Val) c.7040C>T (p.Ala2347Val) c.6995C>T (p.Ala2332Val) c.6977C>T (p.Ala2326Val) c.6974C>T (p.Ala2325Val) c.6959C>T (p.Ala2320Val) c.6932C>T (p.Ala2311Val) c.6917C>T (p.Ala2306Val) c.6938C>T (p.Ala2313Val) c.6914C>T (p.Ala2305Val) | |
9 | g.128632321C>A | CA467485004 | SPTAN1 | c.6993C>A (p.Ala2331=) c.7020C>A (p.Ala2340=) c.7044C>A (p.Ala2348=) c.6483C>A (p.Ala2161=) c.4562C>A c.2899C>A c.6957C>A (p.Ala2319=) n.681C>A c.6882C>A (p.Ala2294=) c.6942C>A (p.Ala2314=) n.911C>A n.714C>A c.6897C>A (p.Ala2299=) c.7056C>A (p.Ala2352=) c.7041C>A (p.Ala2347=) c.6996C>A (p.Ala2332=) c.6978C>A (p.Ala2326=) c.6975C>A (p.Ala2325=) c.6960C>A (p.Ala2320=) c.6933C>A (p.Ala2311=) c.6918C>A (p.Ala2306=) c.6939C>A (p.Ala2313=) c.6915C>A (p.Ala2305=) | |
9 | g.128632321C>G | CA467485005 | SPTAN1 | c.6993C>G (p.Ala2331=) c.7020C>G (p.Ala2340=) c.7044C>G (p.Ala2348=) c.6483C>G (p.Ala2161=) c.4562C>G c.2899C>G c.6957C>G (p.Ala2319=) n.681C>G c.6882C>G (p.Ala2294=) c.6942C>G (p.Ala2314=) n.911C>G n.714C>G c.6897C>G (p.Ala2299=) c.7056C>G (p.Ala2352=) c.7041C>G (p.Ala2347=) c.6996C>G (p.Ala2332=) c.6978C>G (p.Ala2326=) c.6975C>G (p.Ala2325=) c.6960C>G (p.Ala2320=) c.6933C>G (p.Ala2311=) c.6918C>G (p.Ala2306=) c.6939C>G (p.Ala2313=) c.6915C>G (p.Ala2305=) | |
9 | g.128632321C>T | CA467485006 | SPTAN1 | c.6993C>T (p.Ala2331=) c.7020C>T (p.Ala2340=) c.7044C>T (p.Ala2348=) c.6483C>T (p.Ala2161=) c.4562C>T c.2899C>T c.6957C>T (p.Ala2319=) n.681C>T c.6882C>T (p.Ala2294=) c.6942C>T (p.Ala2314=) n.911C>T n.714C>T c.6897C>T (p.Ala2299=) c.7056C>T (p.Ala2352=) c.7041C>T (p.Ala2347=) c.6996C>T (p.Ala2332=) c.6978C>T (p.Ala2326=) c.6975C>T (p.Ala2325=) c.6960C>T (p.Ala2320=) c.6933C>T (p.Ala2311=) c.6918C>T (p.Ala2306=) c.6939C>T (p.Ala2313=) c.6915C>T (p.Ala2305=) | gnomAD v4 |
9 | g.128632322A>C | CA467485007 | SPTAN1 | c.6994A>C (p.Arg2332=) c.7021A>C (p.Arg2341=) c.7045A>C (p.Arg2349=) c.6484A>C (p.Arg2162=) c.4563A>C c.2900A>C c.6958A>C (p.Arg2320=) n.682A>C c.6883A>C (p.Arg2295=) c.6943A>C (p.Arg2315=) n.912A>C n.715A>C c.6898A>C (p.Arg2300=) c.7057A>C (p.Arg2353=) c.7042A>C (p.Arg2348=) c.6997A>C (p.Arg2333=) c.6979A>C (p.Arg2327=) c.6976A>C (p.Arg2326=) c.6961A>C (p.Arg2321=) c.6934A>C (p.Arg2312=) c.6919A>C (p.Arg2307=) c.6940A>C (p.Arg2314=) c.6916A>C (p.Arg2306=) | gnomAD v4 |
9 | g.128632322A>G | CA375099264 | SPTAN1 | c.6994A>G (p.Arg2332Gly) c.7021A>G (p.Arg2341Gly) c.7045A>G (p.Arg2349Gly) c.6484A>G (p.Arg2162Gly) c.4563A>G c.2900A>G c.6958A>G (p.Arg2320Gly) n.682A>G c.6883A>G (p.Arg2295Gly) c.6943A>G (p.Arg2315Gly) n.912A>G n.715A>G c.6898A>G (p.Arg2300Gly) c.7057A>G (p.Arg2353Gly) c.7042A>G (p.Arg2348Gly) c.6997A>G (p.Arg2333Gly) c.6979A>G (p.Arg2327Gly) c.6976A>G (p.Arg2326Gly) c.6961A>G (p.Arg2321Gly) c.6934A>G (p.Arg2312Gly) c.6919A>G (p.Arg2307Gly) c.6940A>G (p.Arg2314Gly) c.6916A>G (p.Arg2306Gly) | |
9 | g.128632322A>T | CA375099266 | SPTAN1 | c.6994A>T (p.Arg2332Trp) c.7021A>T (p.Arg2341Trp) c.7045A>T (p.Arg2349Trp) c.6484A>T (p.Arg2162Trp) c.4563A>T c.2900A>T c.6958A>T (p.Arg2320Trp) n.682A>T c.6883A>T (p.Arg2295Trp) c.6943A>T (p.Arg2315Trp) n.912A>T n.715A>T c.6898A>T (p.Arg2300Trp) c.7057A>T (p.Arg2353Trp) c.7042A>T (p.Arg2348Trp) c.6997A>T (p.Arg2333Trp) c.6979A>T (p.Arg2327Trp) c.6976A>T (p.Arg2326Trp) c.6961A>T (p.Arg2321Trp) c.6934A>T (p.Arg2312Trp) c.6919A>T (p.Arg2307Trp) c.6940A>T (p.Arg2314Trp) c.6916A>T (p.Arg2306Trp) | |
9 | g.128632323G>A | CA375099269 | SPTAN1 | c.6995G>A (p.Arg2332Lys) c.7022G>A (p.Arg2341Lys) c.7046G>A (p.Arg2349Lys) c.6485G>A (p.Arg2162Lys) c.4564G>A c.2901G>A c.6959G>A (p.Arg2320Lys) n.683G>A c.6884G>A (p.Arg2295Lys) c.6944G>A (p.Arg2315Lys) n.913G>A n.716G>A c.6899G>A (p.Arg2300Lys) c.7058G>A (p.Arg2353Lys) c.7043G>A (p.Arg2348Lys) c.6998G>A (p.Arg2333Lys) c.6980G>A (p.Arg2327Lys) c.6977G>A (p.Arg2326Lys) c.6962G>A (p.Arg2321Lys) c.6935G>A (p.Arg2312Lys) c.6920G>A (p.Arg2307Lys) c.6941G>A (p.Arg2314Lys) c.6917G>A (p.Arg2306Lys) | |
9 | g.128632323G>C | CA375099271 | SPTAN1 | c.6995G>C (p.Arg2332Thr) c.7022G>C (p.Arg2341Thr) c.7046G>C (p.Arg2349Thr) c.6485G>C (p.Arg2162Thr) c.4564G>C c.2901G>C c.6959G>C (p.Arg2320Thr) n.683G>C c.6884G>C (p.Arg2295Thr) c.6944G>C (p.Arg2315Thr) n.913G>C n.716G>C c.6899G>C (p.Arg2300Thr) c.7058G>C (p.Arg2353Thr) c.7043G>C (p.Arg2348Thr) c.6998G>C (p.Arg2333Thr) c.6980G>C (p.Arg2327Thr) c.6977G>C (p.Arg2326Thr) c.6962G>C (p.Arg2321Thr) c.6935G>C (p.Arg2312Thr) c.6920G>C (p.Arg2307Thr) c.6941G>C (p.Arg2314Thr) c.6917G>C (p.Arg2306Thr) | |
9 | g.128632323G>T | CA375099275 | SPTAN1 | c.6995G>T (p.Arg2332Met) c.7022G>T (p.Arg2341Met) c.7046G>T (p.Arg2349Met) c.6485G>T (p.Arg2162Met) c.4564G>T c.2901G>T c.6959G>T (p.Arg2320Met) n.683G>T c.6884G>T (p.Arg2295Met) c.6944G>T (p.Arg2315Met) n.913G>T n.716G>T c.6899G>T (p.Arg2300Met) c.7058G>T (p.Arg2353Met) c.7043G>T (p.Arg2348Met) c.6998G>T (p.Arg2333Met) c.6980G>T (p.Arg2327Met) c.6977G>T (p.Arg2326Met) c.6962G>T (p.Arg2321Met) c.6935G>T (p.Arg2312Met) c.6920G>T (p.Arg2307Met) c.6941G>T (p.Arg2314Met) c.6917G>T (p.Arg2306Met) | |
9 | g.128632324G>A | CA375099287 | SPTAN1 | c.6995+1G>A (n.6995+1G>A) c.7022+1G>A (n.7022+1G>A) c.7046+1G>A (n.7046+1G>A) c.6485+1G>A (n.6485+1G>A) c.4564+1G>A c.2901+1G>A c.6959+1G>A (n.6959+1G>A) n.683+1G>A c.6884+1G>A (n.6884+1G>A) c.6944+1G>A (n.6944+1G>A) n.913+1G>A n.716+1G>A c.6899+1G>A (n.6899+1G>A) c.7058+1G>A (n.7058+1G>A) c.7043+1G>A (n.7043+1G>A) c.6998+1G>A (n.6998+1G>A) c.6980+1G>A (n.6980+1G>A) c.6977+1G>A (n.6977+1G>A) c.6962+1G>A (n.6962+1G>A) c.6935+1G>A (n.6935+1G>A) c.6920+1G>A (n.6920+1G>A) c.6941+1G>A (n.6941+1G>A) c.6917+1G>A (n.6917+1G>A) | |
9 | g.128632324G>C | CA375099282 | SPTAN1 | c.6995+1G>C (n.6995+1G>C) c.7022+1G>C (n.7022+1G>C) c.7046+1G>C (n.7046+1G>C) c.6485+1G>C (n.6485+1G>C) c.4564+1G>C c.2901+1G>C c.6959+1G>C (n.6959+1G>C) n.683+1G>C c.6884+1G>C (n.6884+1G>C) c.6944+1G>C (n.6944+1G>C) n.913+1G>C n.716+1G>C c.6899+1G>C (n.6899+1G>C) c.7058+1G>C (n.7058+1G>C) c.7043+1G>C (n.7043+1G>C) c.6998+1G>C (n.6998+1G>C) c.6980+1G>C (n.6980+1G>C) c.6977+1G>C (n.6977+1G>C) c.6962+1G>C (n.6962+1G>C) c.6935+1G>C (n.6935+1G>C) c.6920+1G>C (n.6920+1G>C) c.6941+1G>C (n.6941+1G>C) c.6917+1G>C (n.6917+1G>C) | |
9 | g.128632324G>T | CA375099278 | SPTAN1 | c.6995+1G>T (n.6995+1G>T) c.7022+1G>T (n.7022+1G>T) c.7046+1G>T (n.7046+1G>T) c.6485+1G>T (n.6485+1G>T) c.4564+1G>T c.2901+1G>T c.6959+1G>T (n.6959+1G>T) n.683+1G>T c.6884+1G>T (n.6884+1G>T) c.6944+1G>T (n.6944+1G>T) n.913+1G>T n.716+1G>T c.6899+1G>T (n.6899+1G>T) c.7058+1G>T (n.7058+1G>T) c.7043+1G>T (n.7043+1G>T) c.6998+1G>T (n.6998+1G>T) c.6980+1G>T (n.6980+1G>T) c.6977+1G>T (n.6977+1G>T) c.6962+1G>T (n.6962+1G>T) c.6935+1G>T (n.6935+1G>T) c.6920+1G>T (n.6920+1G>T) c.6941+1G>T (n.6941+1G>T) c.6917+1G>T (n.6917+1G>T) | ClinVar |
9 | g.128632325T>A | CA375099294 | SPTAN1 | c.6995+2T>A (n.6995+2T>A) c.7022+2T>A (n.7022+2T>A) c.7046+2T>A (n.7046+2T>A) c.6485+2T>A (n.6485+2T>A) c.4564+2T>A c.2901+2T>A c.6959+2T>A (n.6959+2T>A) n.683+2T>A c.6884+2T>A (n.6884+2T>A) c.6944+2T>A (n.6944+2T>A) n.913+2T>A n.716+2T>A c.6899+2T>A (n.6899+2T>A) c.7058+2T>A (n.7058+2T>A) c.7043+2T>A (n.7043+2T>A) c.6998+2T>A (n.6998+2T>A) c.6980+2T>A (n.6980+2T>A) c.6977+2T>A (n.6977+2T>A) c.6962+2T>A (n.6962+2T>A) c.6935+2T>A (n.6935+2T>A) c.6920+2T>A (n.6920+2T>A) c.6941+2T>A (n.6941+2T>A) c.6917+2T>A (n.6917+2T>A) | |
9 | g.128632325T>C | CA375099307 | SPTAN1 | c.6995+2T>C (n.6995+2T>C) c.7022+2T>C (n.7022+2T>C) c.7046+2T>C (n.7046+2T>C) c.6485+2T>C (n.6485+2T>C) c.4564+2T>C c.2901+2T>C c.6959+2T>C (n.6959+2T>C) n.683+2T>C c.6884+2T>C (n.6884+2T>C) c.6944+2T>C (n.6944+2T>C) n.913+2T>C n.716+2T>C c.6899+2T>C (n.6899+2T>C) c.7058+2T>C (n.7058+2T>C) c.7043+2T>C (n.7043+2T>C) c.6998+2T>C (n.6998+2T>C) c.6980+2T>C (n.6980+2T>C) c.6977+2T>C (n.6977+2T>C) c.6962+2T>C (n.6962+2T>C) c.6935+2T>C (n.6935+2T>C) c.6920+2T>C (n.6920+2T>C) c.6941+2T>C (n.6941+2T>C) c.6917+2T>C (n.6917+2T>C) | |
9 | g.128632325T>G | CA375099304 | SPTAN1 | c.6995+2T>G (n.6995+2T>G) c.7022+2T>G (n.7022+2T>G) c.7046+2T>G (n.7046+2T>G) c.6485+2T>G (n.6485+2T>G) c.4564+2T>G c.2901+2T>G c.6959+2T>G (n.6959+2T>G) n.683+2T>G c.6884+2T>G (n.6884+2T>G) c.6944+2T>G (n.6944+2T>G) n.913+2T>G n.716+2T>G c.6899+2T>G (n.6899+2T>G) c.7058+2T>G (n.7058+2T>G) c.7043+2T>G (n.7043+2T>G) c.6998+2T>G (n.6998+2T>G) c.6980+2T>G (n.6980+2T>G) c.6977+2T>G (n.6977+2T>G) c.6962+2T>G (n.6962+2T>G) c.6935+2T>G (n.6935+2T>G) c.6920+2T>G (n.6920+2T>G) c.6941+2T>G (n.6941+2T>G) c.6917+2T>G (n.6917+2T>G) | |
9 | g.128632326del | CA2691941340 | SPTAN1 | c.6995+3del (n.6995+3del) c.7022+3del (n.7022+3del) c.7046+3del (n.7046+3del) c.6485+3del (n.6485+3del) c.4564+3del c.2901+3del c.6959+3del (n.6959+3del) n.683+3del c.6884+3del (n.6884+3del) c.6944+3del (n.6944+3del) n.913+3del n.716+3del c.6899+3del (n.6899+3del) c.7058+3del (n.7058+3del) c.7043+3del (n.7043+3del) c.6998+3del (n.6998+3del) c.6980+3del (n.6980+3del) c.6977+3del (n.6977+3del) c.6962+3del (n.6962+3del) c.6935+3del (n.6935+3del) c.6920+3del (n.6920+3del) c.6941+3del (n.6941+3del) c.6917+3del (n.6917+3del) | gnomAD v4 |
9 | g.128632326A= | CA1880371281 | SPTAN1 | c.6995+3A= (n.6995+3A=) c.7022+3A= (n.7022+3A=) c.7046+3A= (n.7046+3A=) c.6485+3A= (n.6485+3A=) c.4564+3A= c.2901+3A= c.6959+3A= (n.6959+3A=) n.683+3A= c.6884+3A= (n.6884+3A=) c.6944+3A= (n.6944+3A=) n.913+3A= n.716+3A= c.6899+3A= (n.6899+3A=) c.7058+3A= (n.7058+3A=) c.7043+3A= (n.7043+3A=) c.6998+3A= (n.6998+3A=) c.6980+3A= (n.6980+3A=) c.6977+3A= (n.6977+3A=) c.6962+3A= (n.6962+3A=) c.6935+3A= (n.6935+3A=) c.6920+3A= (n.6920+3A=) c.6941+3A= (n.6941+3A=) c.6917+3A= (n.6917+3A=) | |
9 | g.128632326A>G | CA590941600 | SPTAN1 | c.6995+3A>G (n.6995+3A>G) c.7022+3A>G (n.7022+3A>G) c.7046+3A>G (n.7046+3A>G) c.6485+3A>G (n.6485+3A>G) c.4564+3A>G c.2901+3A>G c.6959+3A>G (n.6959+3A>G) n.683+3A>G c.6884+3A>G (n.6884+3A>G) c.6944+3A>G (n.6944+3A>G) n.913+3A>G n.716+3A>G c.6899+3A>G (n.6899+3A>G) c.7058+3A>G (n.7058+3A>G) c.7043+3A>G (n.7043+3A>G) c.6998+3A>G (n.6998+3A>G) c.6980+3A>G (n.6980+3A>G) c.6977+3A>G (n.6977+3A>G) c.6962+3A>G (n.6962+3A>G) c.6935+3A>G (n.6935+3A>G) c.6920+3A>G (n.6920+3A>G) c.6941+3A>G (n.6941+3A>G) c.6917+3A>G (n.6917+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128632327C= | CA1880371282 | SPTAN1 | c.6995+4C= (n.6995+4C=) c.7022+4C= (n.7022+4C=) c.7046+4C= (n.7046+4C=) c.6485+4C= (n.6485+4C=) c.4564+4C= c.2901+4C= c.6959+4C= (n.6959+4C=) n.683+4C= c.6884+4C= (n.6884+4C=) c.6944+4C= (n.6944+4C=) n.913+4C= n.716+4C= c.6899+4C= (n.6899+4C=) c.7058+4C= (n.7058+4C=) c.7043+4C= (n.7043+4C=) c.6998+4C= (n.6998+4C=) c.6980+4C= (n.6980+4C=) c.6977+4C= (n.6977+4C=) c.6962+4C= (n.6962+4C=) c.6935+4C= (n.6935+4C=) c.6920+4C= (n.6920+4C=) c.6941+4C= (n.6941+4C=) c.6917+4C= (n.6917+4C=) | |
9 | g.128632327C>G | CA2691941341 | SPTAN1 | c.6995+4C>G (n.6995+4C>G) c.7022+4C>G (n.7022+4C>G) c.7046+4C>G (n.7046+4C>G) c.6485+4C>G (n.6485+4C>G) c.4564+4C>G c.2901+4C>G c.6959+4C>G (n.6959+4C>G) n.683+4C>G c.6884+4C>G (n.6884+4C>G) c.6944+4C>G (n.6944+4C>G) n.913+4C>G n.716+4C>G c.6899+4C>G (n.6899+4C>G) c.7058+4C>G (n.7058+4C>G) c.7043+4C>G (n.7043+4C>G) c.6998+4C>G (n.6998+4C>G) c.6980+4C>G (n.6980+4C>G) c.6977+4C>G (n.6977+4C>G) c.6962+4C>G (n.6962+4C>G) c.6935+4C>G (n.6935+4C>G) c.6920+4C>G (n.6920+4C>G) c.6941+4C>G (n.6941+4C>G) c.6917+4C>G (n.6917+4C>G) | gnomAD v4 |
9 | g.128632327C>T | CA200412552 | SPTAN1 | c.6995+4C>T (n.6995+4C>T) c.7022+4C>T (n.7022+4C>T) c.7046+4C>T (n.7046+4C>T) c.6485+4C>T (n.6485+4C>T) c.4564+4C>T c.2901+4C>T c.6959+4C>T (n.6959+4C>T) n.683+4C>T c.6884+4C>T (n.6884+4C>T) c.6944+4C>T (n.6944+4C>T) n.913+4C>T n.716+4C>T c.6899+4C>T (n.6899+4C>T) c.7058+4C>T (n.7058+4C>T) c.7043+4C>T (n.7043+4C>T) c.6998+4C>T (n.6998+4C>T) c.6980+4C>T (n.6980+4C>T) c.6977+4C>T (n.6977+4C>T) c.6962+4C>T (n.6962+4C>T) c.6935+4C>T (n.6935+4C>T) c.6920+4C>T (n.6920+4C>T) c.6941+4C>T (n.6941+4C>T) c.6917+4C>T (n.6917+4C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632328C= | CA1880371283 | SPTAN1 | c.6995+5C= (n.6995+5C=) c.7022+5C= (n.7022+5C=) c.7046+5C= (n.7046+5C=) c.6485+5C= (n.6485+5C=) c.4564+5C= c.2901+5C= c.6959+5C= (n.6959+5C=) n.683+5C= c.6884+5C= (n.6884+5C=) c.6944+5C= (n.6944+5C=) n.913+5C= n.716+5C= c.6899+5C= (n.6899+5C=) c.7058+5C= (n.7058+5C=) c.7043+5C= (n.7043+5C=) c.6998+5C= (n.6998+5C=) c.6980+5C= (n.6980+5C=) c.6977+5C= (n.6977+5C=) c.6962+5C= (n.6962+5C=) c.6935+5C= (n.6935+5C=) c.6920+5C= (n.6920+5C=) c.6941+5C= (n.6941+5C=) c.6917+5C= (n.6917+5C=) | |
9 | g.128632328C>G | CA16605370 | SPTAN1 | c.6995+5C>G (n.6995+5C>G) c.7022+5C>G (n.7022+5C>G) c.7046+5C>G (n.7046+5C>G) c.6485+5C>G (n.6485+5C>G) c.4564+5C>G c.2901+5C>G c.6959+5C>G (n.6959+5C>G) n.683+5C>G c.6884+5C>G (n.6884+5C>G) c.6944+5C>G (n.6944+5C>G) n.913+5C>G n.716+5C>G c.6899+5C>G (n.6899+5C>G) c.7058+5C>G (n.7058+5C>G) c.7043+5C>G (n.7043+5C>G) c.6998+5C>G (n.6998+5C>G) c.6980+5C>G (n.6980+5C>G) c.6977+5C>G (n.6977+5C>G) c.6962+5C>G (n.6962+5C>G) c.6935+5C>G (n.6935+5C>G) c.6920+5C>G (n.6920+5C>G) c.6941+5C>G (n.6941+5C>G) c.6917+5C>G (n.6917+5C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632328C>T | CA658797300 | SPTAN1 | c.6995+5C>T (n.6995+5C>T) c.7022+5C>T (n.7022+5C>T) c.7046+5C>T (n.7046+5C>T) c.6485+5C>T (n.6485+5C>T) c.4564+5C>T c.2901+5C>T c.6959+5C>T (n.6959+5C>T) n.683+5C>T c.6884+5C>T (n.6884+5C>T) c.6944+5C>T (n.6944+5C>T) n.913+5C>T n.716+5C>T c.6899+5C>T (n.6899+5C>T) c.7058+5C>T (n.7058+5C>T) c.7043+5C>T (n.7043+5C>T) c.6998+5C>T (n.6998+5C>T) c.6980+5C>T (n.6980+5C>T) c.6977+5C>T (n.6977+5C>T) c.6962+5C>T (n.6962+5C>T) c.6935+5C>T (n.6935+5C>T) c.6920+5C>T (n.6920+5C>T) c.6941+5C>T (n.6941+5C>T) c.6917+5C>T (n.6917+5C>T) | ClinVar dbSNP gnomAD v4 |
9 | g.128632329C>A | CA2691941342 | SPTAN1 | c.6995+6C>A (n.6995+6C>A) c.7022+6C>A (n.7022+6C>A) c.7046+6C>A (n.7046+6C>A) c.6485+6C>A (n.6485+6C>A) c.4564+6C>A c.2901+6C>A c.6959+6C>A (n.6959+6C>A) n.683+6C>A c.6884+6C>A (n.6884+6C>A) c.6944+6C>A (n.6944+6C>A) n.913+6C>A n.716+6C>A c.6899+6C>A (n.6899+6C>A) c.7058+6C>A (n.7058+6C>A) c.7043+6C>A (n.7043+6C>A) c.6998+6C>A (n.6998+6C>A) c.6980+6C>A (n.6980+6C>A) c.6977+6C>A (n.6977+6C>A) c.6962+6C>A (n.6962+6C>A) c.6935+6C>A (n.6935+6C>A) c.6920+6C>A (n.6920+6C>A) c.6941+6C>A (n.6941+6C>A) c.6917+6C>A (n.6917+6C>A) | gnomAD v4 |
9 | g.128632329C= | CA1880371284 | SPTAN1 | c.6995+6C= (n.6995+6C=) c.7022+6C= (n.7022+6C=) c.7046+6C= (n.7046+6C=) c.6485+6C= (n.6485+6C=) c.4564+6C= c.2901+6C= c.6959+6C= (n.6959+6C=) n.683+6C= c.6884+6C= (n.6884+6C=) c.6944+6C= (n.6944+6C=) n.913+6C= n.716+6C= c.6899+6C= (n.6899+6C=) c.7058+6C= (n.7058+6C=) c.7043+6C= (n.7043+6C=) c.6998+6C= (n.6998+6C=) c.6980+6C= (n.6980+6C=) c.6977+6C= (n.6977+6C=) c.6962+6C= (n.6962+6C=) c.6935+6C= (n.6935+6C=) c.6920+6C= (n.6920+6C=) c.6941+6C= (n.6941+6C=) c.6917+6C= (n.6917+6C=) | |
9 | g.128632329C>T | CA5265932 | SPTAN1 | c.6995+6C>T (n.6995+6C>T) c.7022+6C>T (n.7022+6C>T) c.7046+6C>T (n.7046+6C>T) c.6485+6C>T (n.6485+6C>T) c.4564+6C>T c.2901+6C>T c.6959+6C>T (n.6959+6C>T) n.683+6C>T c.6884+6C>T (n.6884+6C>T) c.6944+6C>T (n.6944+6C>T) n.913+6C>T n.716+6C>T c.6899+6C>T (n.6899+6C>T) c.7058+6C>T (n.7058+6C>T) c.7043+6C>T (n.7043+6C>T) c.6998+6C>T (n.6998+6C>T) c.6980+6C>T (n.6980+6C>T) c.6977+6C>T (n.6977+6C>T) c.6962+6C>T (n.6962+6C>T) c.6935+6C>T (n.6935+6C>T) c.6920+6C>T (n.6920+6C>T) c.6941+6C>T (n.6941+6C>T) c.6917+6C>T (n.6917+6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632330G>A | CA5265933 | SPTAN1 | c.6995+7G>A (n.6995+7G>A) c.7022+7G>A (n.7022+7G>A) c.7046+7G>A (n.7046+7G>A) c.6485+7G>A (n.6485+7G>A) c.4564+7G>A c.2901+7G>A c.6959+7G>A (n.6959+7G>A) n.683+7G>A c.6884+7G>A (n.6884+7G>A) c.6944+7G>A (n.6944+7G>A) n.913+7G>A n.716+7G>A c.6899+7G>A (n.6899+7G>A) c.7058+7G>A (n.7058+7G>A) c.7043+7G>A (n.7043+7G>A) c.6998+7G>A (n.6998+7G>A) c.6980+7G>A (n.6980+7G>A) c.6977+7G>A (n.6977+7G>A) c.6962+7G>A (n.6962+7G>A) c.6935+7G>A (n.6935+7G>A) c.6920+7G>A (n.6920+7G>A) c.6941+7G>A (n.6941+7G>A) c.6917+7G>A (n.6917+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632330G= | CA1880371285 | SPTAN1 | c.6995+7G= (n.6995+7G=) c.7022+7G= (n.7022+7G=) c.7046+7G= (n.7046+7G=) c.6485+7G= (n.6485+7G=) c.4564+7G= c.2901+7G= c.6959+7G= (n.6959+7G=) n.683+7G= c.6884+7G= (n.6884+7G=) c.6944+7G= (n.6944+7G=) n.913+7G= n.716+7G= c.6899+7G= (n.6899+7G=) c.7058+7G= (n.7058+7G=) c.7043+7G= (n.7043+7G=) c.6998+7G= (n.6998+7G=) c.6980+7G= (n.6980+7G=) c.6977+7G= (n.6977+7G=) c.6962+7G= (n.6962+7G=) c.6935+7G= (n.6935+7G=) c.6920+7G= (n.6920+7G=) c.6941+7G= (n.6941+7G=) c.6917+7G= (n.6917+7G=) | |
9 | g.128632330G>T | CA915947579 | SPTAN1 | c.6995+7G>T (n.6995+7G>T) c.7022+7G>T (n.7022+7G>T) c.7046+7G>T (n.7046+7G>T) c.6485+7G>T (n.6485+7G>T) c.4564+7G>T c.2901+7G>T c.6959+7G>T (n.6959+7G>T) n.683+7G>T c.6884+7G>T (n.6884+7G>T) c.6944+7G>T (n.6944+7G>T) n.913+7G>T n.716+7G>T c.6899+7G>T (n.6899+7G>T) c.7058+7G>T (n.7058+7G>T) c.7043+7G>T (n.7043+7G>T) c.6998+7G>T (n.6998+7G>T) c.6980+7G>T (n.6980+7G>T) c.6977+7G>T (n.6977+7G>T) c.6962+7G>T (n.6962+7G>T) c.6935+7G>T (n.6935+7G>T) c.6920+7G>T (n.6920+7G>T) c.6941+7G>T (n.6941+7G>T) c.6917+7G>T (n.6917+7G>T) | ClinVar dbSNP |
9 | g.128632332del | CA2579470530 | SPTAN1 | c.6995+9del (n.6995+9del) c.7022+9del (n.7022+9del) c.7046+9del (n.7046+9del) c.6485+9del (n.6485+9del) c.4564+9del c.2901+9del c.6959+9del (n.6959+9del) n.683+9del c.6884+9del (n.6884+9del) c.6944+9del (n.6944+9del) n.913+9del n.716+9del c.6899+9del (n.6899+9del) c.7058+9del (n.7058+9del) c.7043+9del (n.7043+9del) c.6998+9del (n.6998+9del) c.6980+9del (n.6980+9del) c.6977+9del (n.6977+9del) c.6962+9del (n.6962+9del) c.6935+9del (n.6935+9del) c.6920+9del (n.6920+9del) c.6941+9del (n.6941+9del) c.6917+9del (n.6917+9del) | |
9 | g.128632331G>A | CA2580079756 | SPTAN1 | c.6995+8G>A (n.6995+8G>A) c.7022+8G>A (n.7022+8G>A) c.7046+8G>A (n.7046+8G>A) c.6485+8G>A (n.6485+8G>A) c.4564+8G>A c.2901+8G>A c.6959+8G>A (n.6959+8G>A) n.683+8G>A c.6884+8G>A (n.6884+8G>A) c.6944+8G>A (n.6944+8G>A) n.913+8G>A n.716+8G>A c.6899+8G>A (n.6899+8G>A) c.7058+8G>A (n.7058+8G>A) c.7043+8G>A (n.7043+8G>A) c.6998+8G>A (n.6998+8G>A) c.6980+8G>A (n.6980+8G>A) c.6977+8G>A (n.6977+8G>A) c.6962+8G>A (n.6962+8G>A) c.6935+8G>A (n.6935+8G>A) c.6920+8G>A (n.6920+8G>A) c.6941+8G>A (n.6941+8G>A) c.6917+8G>A (n.6917+8G>A) | ClinVar gnomAD v4 |
9 | g.128632331G>C | CA1880371287 | SPTAN1 | c.6995+8G>C (n.6995+8G>C) c.7022+8G>C (n.7022+8G>C) c.7046+8G>C (n.7046+8G>C) c.6485+8G>C (n.6485+8G>C) c.4564+8G>C c.2901+8G>C c.6959+8G>C (n.6959+8G>C) n.683+8G>C c.6884+8G>C (n.6884+8G>C) c.6944+8G>C (n.6944+8G>C) n.913+8G>C n.716+8G>C c.6899+8G>C (n.6899+8G>C) c.7058+8G>C (n.7058+8G>C) c.7043+8G>C (n.7043+8G>C) c.6998+8G>C (n.6998+8G>C) c.6980+8G>C (n.6980+8G>C) c.6977+8G>C (n.6977+8G>C) c.6962+8G>C (n.6962+8G>C) c.6935+8G>C (n.6935+8G>C) c.6920+8G>C (n.6920+8G>C) c.6941+8G>C (n.6941+8G>C) c.6917+8G>C (n.6917+8G>C) | dbSNP |
9 | g.128632331G= | CA1880371286 | SPTAN1 | c.6995+8G= (n.6995+8G=) c.7022+8G= (n.7022+8G=) c.7046+8G= (n.7046+8G=) c.6485+8G= (n.6485+8G=) c.4564+8G= c.2901+8G= c.6959+8G= (n.6959+8G=) n.683+8G= c.6884+8G= (n.6884+8G=) c.6944+8G= (n.6944+8G=) n.913+8G= n.716+8G= c.6899+8G= (n.6899+8G=) c.7058+8G= (n.7058+8G=) c.7043+8G= (n.7043+8G=) c.6998+8G= (n.6998+8G=) c.6980+8G= (n.6980+8G=) c.6977+8G= (n.6977+8G=) c.6962+8G= (n.6962+8G=) c.6935+8G= (n.6935+8G=) c.6920+8G= (n.6920+8G=) c.6941+8G= (n.6941+8G=) c.6917+8G= (n.6917+8G=) | |
9 | g.128632332G>A | CA590941601 | SPTAN1 | c.6995+9G>A (n.6995+9G>A) c.7022+9G>A (n.7022+9G>A) c.7046+9G>A (n.7046+9G>A) c.6485+9G>A (n.6485+9G>A) c.4564+9G>A c.2901+9G>A c.6959+9G>A (n.6959+9G>A) n.683+9G>A c.6884+9G>A (n.6884+9G>A) c.6944+9G>A (n.6944+9G>A) n.913+9G>A n.716+9G>A c.6899+9G>A (n.6899+9G>A) c.7058+9G>A (n.7058+9G>A) c.7043+9G>A (n.7043+9G>A) c.6998+9G>A (n.6998+9G>A) c.6980+9G>A (n.6980+9G>A) c.6977+9G>A (n.6977+9G>A) c.6962+9G>A (n.6962+9G>A) c.6935+9G>A (n.6935+9G>A) c.6920+9G>A (n.6920+9G>A) c.6941+9G>A (n.6941+9G>A) c.6917+9G>A (n.6917+9G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632332G= | CA1880371288 | SPTAN1 | c.6995+9G= (n.6995+9G=) c.7022+9G= (n.7022+9G=) c.7046+9G= (n.7046+9G=) c.6485+9G= (n.6485+9G=) c.4564+9G= c.2901+9G= c.6959+9G= (n.6959+9G=) n.683+9G= c.6884+9G= (n.6884+9G=) c.6944+9G= (n.6944+9G=) n.913+9G= n.716+9G= c.6899+9G= (n.6899+9G=) c.7058+9G= (n.7058+9G=) c.7043+9G= (n.7043+9G=) c.6998+9G= (n.6998+9G=) c.6980+9G= (n.6980+9G=) c.6977+9G= (n.6977+9G=) c.6962+9G= (n.6962+9G=) c.6935+9G= (n.6935+9G=) c.6920+9G= (n.6920+9G=) c.6941+9G= (n.6941+9G=) c.6917+9G= (n.6917+9G=) | |
9 | g.128632333A>C | CA2579470531 | SPTAN1 | c.6995+10A>C (n.6995+10A>C) c.7022+10A>C (n.7022+10A>C) c.7046+10A>C (n.7046+10A>C) c.6485+10A>C (n.6485+10A>C) c.4564+10A>C c.2901+10A>C c.6959+10A>C (n.6959+10A>C) n.683+10A>C c.6884+10A>C (n.6884+10A>C) c.6944+10A>C (n.6944+10A>C) n.913+10A>C n.716+10A>C c.6899+10A>C (n.6899+10A>C) c.7058+10A>C (n.7058+10A>C) c.7043+10A>C (n.7043+10A>C) c.6998+10A>C (n.6998+10A>C) c.6980+10A>C (n.6980+10A>C) c.6977+10A>C (n.6977+10A>C) c.6962+10A>C (n.6962+10A>C) c.6935+10A>C (n.6935+10A>C) c.6920+10A>C (n.6920+10A>C) c.6941+10A>C (n.6941+10A>C) c.6917+10A>C (n.6917+10A>C) | |
9 | g.128632334G>A | CA2573143912 | SPTAN1 | c.6995+11G>A (n.6995+11G>A) c.7022+11G>A (n.7022+11G>A) c.7046+11G>A (n.7046+11G>A) c.6485+11G>A (n.6485+11G>A) c.4564+11G>A c.2901+11G>A c.6959+11G>A (n.6959+11G>A) n.683+11G>A c.6884+11G>A (n.6884+11G>A) c.6944+11G>A (n.6944+11G>A) n.913+11G>A n.716+11G>A c.6899+11G>A (n.6899+11G>A) c.7058+11G>A (n.7058+11G>A) c.7043+11G>A (n.7043+11G>A) c.6998+11G>A (n.6998+11G>A) c.6980+11G>A (n.6980+11G>A) c.6977+11G>A (n.6977+11G>A) c.6962+11G>A (n.6962+11G>A) c.6935+11G>A (n.6935+11G>A) c.6920+11G>A (n.6920+11G>A) c.6941+11G>A (n.6941+11G>A) c.6917+11G>A (n.6917+11G>A) | ClinVar dbSNP |
9 | g.128632335G>A | CA2580079757 | SPTAN1 | c.6995+12G>A (n.6995+12G>A) c.7022+12G>A (n.7022+12G>A) c.7046+12G>A (n.7046+12G>A) c.6485+12G>A (n.6485+12G>A) c.4564+12G>A c.2901+12G>A c.6959+12G>A (n.6959+12G>A) n.683+12G>A c.6884+12G>A (n.6884+12G>A) c.6944+12G>A (n.6944+12G>A) n.913+12G>A n.716+12G>A c.6899+12G>A (n.6899+12G>A) c.7058+12G>A (n.7058+12G>A) c.7043+12G>A (n.7043+12G>A) c.6998+12G>A (n.6998+12G>A) c.6980+12G>A (n.6980+12G>A) c.6977+12G>A (n.6977+12G>A) c.6962+12G>A (n.6962+12G>A) c.6935+12G>A (n.6935+12G>A) c.6920+12G>A (n.6920+12G>A) c.6941+12G>A (n.6941+12G>A) c.6917+12G>A (n.6917+12G>A) | ClinVar gnomAD v4 |
9 | g.128632336G= | CA1880371289 | SPTAN1 | c.6995+13G= (n.6995+13G=) c.7022+13G= (n.7022+13G=) c.7046+13G= (n.7046+13G=) c.6485+13G= (n.6485+13G=) c.4564+13G= c.2901+13G= c.6959+13G= (n.6959+13G=) n.683+13G= c.6884+13G= (n.6884+13G=) c.6944+13G= (n.6944+13G=) n.913+13G= n.716+13G= c.6899+13G= (n.6899+13G=) c.7058+13G= (n.7058+13G=) c.7043+13G= (n.7043+13G=) c.6998+13G= (n.6998+13G=) c.6980+13G= (n.6980+13G=) c.6977+13G= (n.6977+13G=) c.6962+13G= (n.6962+13G=) c.6935+13G= (n.6935+13G=) c.6920+13G= (n.6920+13G=) c.6941+13G= (n.6941+13G=) c.6917+13G= (n.6917+13G=) | |
9 | g.128632336G>T | CA590941602 | SPTAN1 | c.6995+13G>T (n.6995+13G>T) c.7022+13G>T (n.7022+13G>T) c.7046+13G>T (n.7046+13G>T) c.6485+13G>T (n.6485+13G>T) c.4564+13G>T c.2901+13G>T c.6959+13G>T (n.6959+13G>T) n.683+13G>T c.6884+13G>T (n.6884+13G>T) c.6944+13G>T (n.6944+13G>T) n.913+13G>T n.716+13G>T c.6899+13G>T (n.6899+13G>T) c.7058+13G>T (n.7058+13G>T) c.7043+13G>T (n.7043+13G>T) c.6998+13G>T (n.6998+13G>T) c.6980+13G>T (n.6980+13G>T) c.6977+13G>T (n.6977+13G>T) c.6962+13G>T (n.6962+13G>T) c.6935+13G>T (n.6935+13G>T) c.6920+13G>T (n.6920+13G>T) c.6941+13G>T (n.6941+13G>T) c.6917+13G>T (n.6917+13G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632337C>T | CA2562659477 | SPTAN1 | c.6995+14C>T (n.6995+14C>T) c.7022+14C>T (n.7022+14C>T) c.7046+14C>T (n.7046+14C>T) c.6485+14C>T (n.6485+14C>T) c.4564+14C>T c.2901+14C>T c.6959+14C>T (n.6959+14C>T) n.683+14C>T c.6884+14C>T (n.6884+14C>T) c.6944+14C>T (n.6944+14C>T) n.913+14C>T n.716+14C>T c.6899+14C>T (n.6899+14C>T) c.7058+14C>T (n.7058+14C>T) c.7043+14C>T (n.7043+14C>T) c.6998+14C>T (n.6998+14C>T) c.6980+14C>T (n.6980+14C>T) c.6977+14C>T (n.6977+14C>T) c.6962+14C>T (n.6962+14C>T) c.6935+14C>T (n.6935+14C>T) c.6920+14C>T (n.6920+14C>T) c.6941+14C>T (n.6941+14C>T) c.6917+14C>T (n.6917+14C>T) | |
9 | g.128632338T>C | CA5265934 | SPTAN1 | c.6995+15T>C (n.6995+15T>C) c.7022+15T>C (n.7022+15T>C) c.7046+15T>C (n.7046+15T>C) c.6485+15T>C (n.6485+15T>C) c.4564+15T>C c.2901+15T>C c.6959+15T>C (n.6959+15T>C) n.683+15T>C c.6884+15T>C (n.6884+15T>C) c.6944+15T>C (n.6944+15T>C) n.913+15T>C n.716+15T>C c.6899+15T>C (n.6899+15T>C) c.7058+15T>C (n.7058+15T>C) c.7043+15T>C (n.7043+15T>C) c.6998+15T>C (n.6998+15T>C) c.6980+15T>C (n.6980+15T>C) c.6977+15T>C (n.6977+15T>C) c.6962+15T>C (n.6962+15T>C) c.6935+15T>C (n.6935+15T>C) c.6920+15T>C (n.6920+15T>C) c.6941+15T>C (n.6941+15T>C) c.6917+15T>C (n.6917+15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632338T= | CA1880371290 | SPTAN1 | c.6995+15T= (n.6995+15T=) c.7022+15T= (n.7022+15T=) c.7046+15T= (n.7046+15T=) c.6485+15T= (n.6485+15T=) c.4564+15T= c.2901+15T= c.6959+15T= (n.6959+15T=) n.683+15T= c.6884+15T= (n.6884+15T=) c.6944+15T= (n.6944+15T=) n.913+15T= n.716+15T= c.6899+15T= (n.6899+15T=) c.7058+15T= (n.7058+15T=) c.7043+15T= (n.7043+15T=) c.6998+15T= (n.6998+15T=) c.6980+15T= (n.6980+15T=) c.6977+15T= (n.6977+15T=) c.6962+15T= (n.6962+15T=) c.6935+15T= (n.6935+15T=) c.6920+15T= (n.6920+15T=) c.6941+15T= (n.6941+15T=) c.6917+15T= (n.6917+15T=) | |
9 | g.128632339G>A | CA653588779 | SPTAN1 | c.6995+16G>A (n.6995+16G>A) c.7022+16G>A (n.7022+16G>A) c.7046+16G>A (n.7046+16G>A) c.6485+16G>A (n.6485+16G>A) c.4564+16G>A c.2901+16G>A c.6959+16G>A (n.6959+16G>A) n.683+16G>A c.6884+16G>A (n.6884+16G>A) c.6944+16G>A (n.6944+16G>A) n.913+16G>A n.716+16G>A c.6899+16G>A (n.6899+16G>A) c.7058+16G>A (n.7058+16G>A) c.7043+16G>A (n.7043+16G>A) c.6998+16G>A (n.6998+16G>A) c.6980+16G>A (n.6980+16G>A) c.6977+16G>A (n.6977+16G>A) c.6962+16G>A (n.6962+16G>A) c.6935+16G>A (n.6935+16G>A) c.6920+16G>A (n.6920+16G>A) c.6941+16G>A (n.6941+16G>A) c.6917+16G>A (n.6917+16G>A) | ClinVar COSMIC |
9 | g.128632339dup | CA2691941343 | SPTAN1 | c.6995+16dup (n.6995+16dup) c.7022+16dup (n.7022+16dup) c.7046+16dup (n.7046+16dup) c.6485+16dup (n.6485+16dup) c.4564+16dup c.2901+16dup c.6959+16dup (n.6959+16dup) n.683+16dup c.6884+16dup (n.6884+16dup) c.6944+16dup (n.6944+16dup) n.913+16dup n.716+16dup c.6899+16dup (n.6899+16dup) c.7058+16dup (n.7058+16dup) c.7043+16dup (n.7043+16dup) c.6998+16dup (n.6998+16dup) c.6980+16dup (n.6980+16dup) c.6977+16dup (n.6977+16dup) c.6962+16dup (n.6962+16dup) c.6935+16dup (n.6935+16dup) c.6920+16dup (n.6920+16dup) c.6941+16dup (n.6941+16dup) c.6917+16dup (n.6917+16dup) | gnomAD v4 |
9 | g.128632340T>C | CA590941603 | SPTAN1 | c.6995+17T>C (n.6995+17T>C) c.7022+17T>C (n.7022+17T>C) c.7046+17T>C (n.7046+17T>C) c.6485+17T>C (n.6485+17T>C) c.4564+17T>C c.2901+17T>C c.6959+17T>C (n.6959+17T>C) n.683+17T>C c.6884+17T>C (n.6884+17T>C) c.6944+17T>C (n.6944+17T>C) n.913+17T>C n.716+17T>C c.6899+17T>C (n.6899+17T>C) c.7058+17T>C (n.7058+17T>C) c.7043+17T>C (n.7043+17T>C) c.6998+17T>C (n.6998+17T>C) c.6980+17T>C (n.6980+17T>C) c.6977+17T>C (n.6977+17T>C) c.6962+17T>C (n.6962+17T>C) c.6935+17T>C (n.6935+17T>C) c.6920+17T>C (n.6920+17T>C) c.6941+17T>C (n.6941+17T>C) c.6917+17T>C (n.6917+17T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.128632340T= | CA1880371291 | SPTAN1 | c.6995+17T= (n.6995+17T=) c.7022+17T= (n.7022+17T=) c.7046+17T= (n.7046+17T=) c.6485+17T= (n.6485+17T=) c.4564+17T= c.2901+17T= c.6959+17T= (n.6959+17T=) n.683+17T= c.6884+17T= (n.6884+17T=) c.6944+17T= (n.6944+17T=) n.913+17T= n.716+17T= c.6899+17T= (n.6899+17T=) c.7058+17T= (n.7058+17T=) c.7043+17T= (n.7043+17T=) c.6998+17T= (n.6998+17T=) c.6980+17T= (n.6980+17T=) c.6977+17T= (n.6977+17T=) c.6962+17T= (n.6962+17T=) c.6935+17T= (n.6935+17T=) c.6920+17T= (n.6920+17T=) c.6941+17T= (n.6941+17T=) c.6917+17T= (n.6917+17T=) | |
9 | g.128632341G>A | CA2691941344 | SPTAN1 | c.6995+18G>A (n.6995+18G>A) c.7022+18G>A (n.7022+18G>A) c.7046+18G>A (n.7046+18G>A) c.6485+18G>A (n.6485+18G>A) c.4564+18G>A c.2901+18G>A c.6959+18G>A (n.6959+18G>A) n.683+18G>A c.6884+18G>A (n.6884+18G>A) c.6944+18G>A (n.6944+18G>A) n.913+18G>A n.716+18G>A c.6899+18G>A (n.6899+18G>A) c.7058+18G>A (n.7058+18G>A) c.7043+18G>A (n.7043+18G>A) c.6998+18G>A (n.6998+18G>A) c.6980+18G>A (n.6980+18G>A) c.6977+18G>A (n.6977+18G>A) c.6962+18G>A (n.6962+18G>A) c.6935+18G>A (n.6935+18G>A) c.6920+18G>A (n.6920+18G>A) c.6941+18G>A (n.6941+18G>A) c.6917+18G>A (n.6917+18G>A) | gnomAD v4 |
9 | g.128632341G>C | CA1880371293 | SPTAN1 | c.6995+18G>C (n.6995+18G>C) c.7022+18G>C (n.7022+18G>C) c.7046+18G>C (n.7046+18G>C) c.6485+18G>C (n.6485+18G>C) c.4564+18G>C c.2901+18G>C c.6959+18G>C (n.6959+18G>C) n.683+18G>C c.6884+18G>C (n.6884+18G>C) c.6944+18G>C (n.6944+18G>C) n.913+18G>C n.716+18G>C c.6899+18G>C (n.6899+18G>C) c.7058+18G>C (n.7058+18G>C) c.7043+18G>C (n.7043+18G>C) c.6998+18G>C (n.6998+18G>C) c.6980+18G>C (n.6980+18G>C) c.6977+18G>C (n.6977+18G>C) c.6962+18G>C (n.6962+18G>C) c.6935+18G>C (n.6935+18G>C) c.6920+18G>C (n.6920+18G>C) c.6941+18G>C (n.6941+18G>C) c.6917+18G>C (n.6917+18G>C) | ClinVar dbSNP |
9 | g.128632341G= | CA1880371292 | SPTAN1 | c.6995+18G= (n.6995+18G=) c.7022+18G= (n.7022+18G=) c.7046+18G= (n.7046+18G=) c.6485+18G= (n.6485+18G=) c.4564+18G= c.2901+18G= c.6959+18G= (n.6959+18G=) n.683+18G= c.6884+18G= (n.6884+18G=) c.6944+18G= (n.6944+18G=) n.913+18G= n.716+18G= c.6899+18G= (n.6899+18G=) c.7058+18G= (n.7058+18G=) c.7043+18G= (n.7043+18G=) c.6998+18G= (n.6998+18G=) c.6980+18G= (n.6980+18G=) c.6977+18G= (n.6977+18G=) c.6962+18G= (n.6962+18G=) c.6935+18G= (n.6935+18G=) c.6920+18G= (n.6920+18G=) c.6941+18G= (n.6941+18G=) c.6917+18G= (n.6917+18G=) | |
9 | g.128632342_128632345dup | CA590941604 | SPTAN1 | c.6995+19_6995+22dup (n.6995+19_6995+22dup) c.7022+19_7022+22dup (n.7022+19_7022+22dup) c.7046+19_7046+22dup (n.7046+19_7046+22dup) c.6485+19_6485+22dup (n.6485+19_6485+22dup) c.4564+19_4564+22dup c.2901+19_2901+22dup c.6959+19_6959+22dup (n.6959+19_6959+22dup) n.683+19_683+22dup c.6884+19_6884+22dup (n.6884+19_6884+22dup) c.6944+19_6944+22dup (n.6944+19_6944+22dup) n.913+19_913+22dup n.716+19_716+22dup c.6899+19_6899+22dup (n.6899+19_6899+22dup) c.7058+19_7058+22dup (n.7058+19_7058+22dup) c.7043+19_7043+22dup (n.7043+19_7043+22dup) c.6998+19_6998+22dup (n.6998+19_6998+22dup) c.6980+19_6980+22dup (n.6980+19_6980+22dup) c.6977+19_6977+22dup (n.6977+19_6977+22dup) c.6962+19_6962+22dup (n.6962+19_6962+22dup) c.6935+19_6935+22dup (n.6935+19_6935+22dup) c.6920+19_6920+22dup (n.6920+19_6920+22dup) c.6941+19_6941+22dup (n.6941+19_6941+22dup) c.6917+19_6917+22dup (n.6917+19_6917+22dup) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128632344C= | CA1880371294 | SPTAN1 | c.6995+21C= (n.6995+21C=) c.7022+21C= (n.7022+21C=) c.7046+21C= (n.7046+21C=) c.6485+21C= (n.6485+21C=) c.4564+21C= c.2901+21C= c.6959+21C= (n.6959+21C=) n.683+21C= c.6884+21C= (n.6884+21C=) c.6944+21C= (n.6944+21C=) n.913+21C= n.716+21C= c.6899+21C= (n.6899+21C=) c.7058+21C= (n.7058+21C=) c.7043+21C= (n.7043+21C=) c.6998+21C= (n.6998+21C=) c.6980+21C= (n.6980+21C=) c.6977+21C= (n.6977+21C=) c.6962+21C= (n.6962+21C=) c.6935+21C= (n.6935+21C=) c.6920+21C= (n.6920+21C=) c.6941+21C= (n.6941+21C=) c.6917+21C= (n.6917+21C=) | |
9 | g.128632344C>T | CA5265935 | SPTAN1 | c.6995+21C>T (n.6995+21C>T) c.7022+21C>T (n.7022+21C>T) c.7046+21C>T (n.7046+21C>T) c.6485+21C>T (n.6485+21C>T) c.4564+21C>T c.2901+21C>T c.6959+21C>T (n.6959+21C>T) n.683+21C>T c.6884+21C>T (n.6884+21C>T) c.6944+21C>T (n.6944+21C>T) n.913+21C>T n.716+21C>T c.6899+21C>T (n.6899+21C>T) c.7058+21C>T (n.7058+21C>T) c.7043+21C>T (n.7043+21C>T) c.6998+21C>T (n.6998+21C>T) c.6980+21C>T (n.6980+21C>T) c.6977+21C>T (n.6977+21C>T) c.6962+21C>T (n.6962+21C>T) c.6935+21C>T (n.6935+21C>T) c.6920+21C>T (n.6920+21C>T) c.6941+21C>T (n.6941+21C>T) c.6917+21C>T (n.6917+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632344_128632376delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA | CA1880371295 | SPTAN1 | c.6995+21_6995+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6995+21_6995+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.7022+21_7022+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.7022+21_7022+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.7046+21_7046+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.7046+21_7046+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.6485+21_6485+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6485+21_6485+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.4564+21_4564+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA c.2901+21_2901+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA c.6959+21_6959+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6959+21_6959+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) n.683+21_683+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA c.6884+21_6884+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6884+21_6884+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.6944+21_6944+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6944+21_6944+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) n.913+21_913+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA n.716+21_716+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA c.6899+21_6899+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6899+21_6899+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.7058+21_7058+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.7058+21_7058+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.7043+21_7043+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.7043+21_7043+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.6998+21_6998+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6998+21_6998+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.6980+21_6980+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6980+21_6980+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.6977+21_6977+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6977+21_6977+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.6962+21_6962+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6962+21_6962+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.6935+21_6935+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6935+21_6935+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.6920+21_6920+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6920+21_6920+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.6941+21_6941+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6941+21_6941+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) c.6917+21_6917+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6917+21_6917+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA) | |
9 | g.128632347_128632378del | CA1129343403 | SPTAN1 | c.6995+24_6996-53del (n.6995+24_6996-53del) c.7022+24_7023-53del (n.7022+24_7023-53del) c.7046+24_7047-53del (n.7046+24_7047-53del) c.6485+24_6486-53del (n.6485+24_6486-53del) c.4564+24_4565-53del c.2901+24_2902-53del c.6959+24_6960-53del (n.6959+24_6960-53del) n.683+24_684-53del c.6884+24_6885-53del (n.6884+24_6885-53del) c.6944+24_6945-53del (n.6944+24_6945-53del) n.913+24_914-53del n.716+24_717-53del c.6899+24_6900-53del (n.6899+24_6900-53del) c.7058+24_7059-53del (n.7058+24_7059-53del) c.7043+24_7044-53del (n.7043+24_7044-53del) c.6998+24_6999-53del (n.6998+24_6999-53del) c.6980+24_6981-53del (n.6980+24_6981-53del) c.6977+24_6978-53del (n.6977+24_6978-53del) c.6962+24_6963-53del (n.6962+24_6963-53del) c.6935+24_6936-53del (n.6935+24_6936-53del) c.6920+24_6921-53del (n.6920+24_6921-53del) c.6941+24_6942-53del (n.6941+24_6942-53del) c.6917+24_6918-53del (n.6917+24_6918-53del) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128632346A= | CA1880371296 | SPTAN1 | c.6995+23A= (n.6995+23A=) c.7022+23A= (n.7022+23A=) c.7046+23A= (n.7046+23A=) c.6485+23A= (n.6485+23A=) c.4564+23A= c.2901+23A= c.6959+23A= (n.6959+23A=) n.683+23A= c.6884+23A= (n.6884+23A=) c.6944+23A= (n.6944+23A=) n.913+23A= n.716+23A= c.6899+23A= (n.6899+23A=) c.7058+23A= (n.7058+23A=) c.7043+23A= (n.7043+23A=) c.6998+23A= (n.6998+23A=) c.6980+23A= (n.6980+23A=) c.6977+23A= (n.6977+23A=) c.6962+23A= (n.6962+23A=) c.6935+23A= (n.6935+23A=) c.6920+23A= (n.6920+23A=) c.6941+23A= (n.6941+23A=) c.6917+23A= (n.6917+23A=) | |
9 | g.128632346A>G | CA5265936 | SPTAN1 | c.6995+23A>G (n.6995+23A>G) c.7022+23A>G (n.7022+23A>G) c.7046+23A>G (n.7046+23A>G) c.6485+23A>G (n.6485+23A>G) c.4564+23A>G c.2901+23A>G c.6959+23A>G (n.6959+23A>G) n.683+23A>G c.6884+23A>G (n.6884+23A>G) c.6944+23A>G (n.6944+23A>G) n.913+23A>G n.716+23A>G c.6899+23A>G (n.6899+23A>G) c.7058+23A>G (n.7058+23A>G) c.7043+23A>G (n.7043+23A>G) c.6998+23A>G (n.6998+23A>G) c.6980+23A>G (n.6980+23A>G) c.6977+23A>G (n.6977+23A>G) c.6962+23A>G (n.6962+23A>G) c.6935+23A>G (n.6935+23A>G) c.6920+23A>G (n.6920+23A>G) c.6941+23A>G (n.6941+23A>G) c.6917+23A>G (n.6917+23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632348G>A | CA2691941345 | SPTAN1 | c.6995+25G>A (n.6995+25G>A) c.7022+25G>A (n.7022+25G>A) c.7046+25G>A (n.7046+25G>A) c.6485+25G>A (n.6485+25G>A) c.4564+25G>A c.2901+25G>A c.6959+25G>A (n.6959+25G>A) n.683+25G>A c.6884+25G>A (n.6884+25G>A) c.6944+25G>A (n.6944+25G>A) n.913+25G>A n.716+25G>A c.6899+25G>A (n.6899+25G>A) c.7058+25G>A (n.7058+25G>A) c.7043+25G>A (n.7043+25G>A) c.6998+25G>A (n.6998+25G>A) c.6980+25G>A (n.6980+25G>A) c.6977+25G>A (n.6977+25G>A) c.6962+25G>A (n.6962+25G>A) c.6935+25G>A (n.6935+25G>A) c.6920+25G>A (n.6920+25G>A) c.6941+25G>A (n.6941+25G>A) c.6917+25G>A (n.6917+25G>A) | gnomAD v4 |
9 | g.128632348G>C | CA2691941346 | SPTAN1 | c.6995+25G>C (n.6995+25G>C) c.7022+25G>C (n.7022+25G>C) c.7046+25G>C (n.7046+25G>C) c.6485+25G>C (n.6485+25G>C) c.4564+25G>C c.2901+25G>C c.6959+25G>C (n.6959+25G>C) n.683+25G>C c.6884+25G>C (n.6884+25G>C) c.6944+25G>C (n.6944+25G>C) n.913+25G>C n.716+25G>C c.6899+25G>C (n.6899+25G>C) c.7058+25G>C (n.7058+25G>C) c.7043+25G>C (n.7043+25G>C) c.6998+25G>C (n.6998+25G>C) c.6980+25G>C (n.6980+25G>C) c.6977+25G>C (n.6977+25G>C) c.6962+25G>C (n.6962+25G>C) c.6935+25G>C (n.6935+25G>C) c.6920+25G>C (n.6920+25G>C) c.6941+25G>C (n.6941+25G>C) c.6917+25G>C (n.6917+25G>C) | gnomAD v4 |
9 | g.128632349C>A | CA860272891 | SPTAN1 | c.6995+26C>A (n.6995+26C>A) c.7022+26C>A (n.7022+26C>A) c.7046+26C>A (n.7046+26C>A) c.6485+26C>A (n.6485+26C>A) c.4564+26C>A c.2901+26C>A c.6959+26C>A (n.6959+26C>A) n.683+26C>A c.6884+26C>A (n.6884+26C>A) c.6944+26C>A (n.6944+26C>A) n.913+26C>A n.716+26C>A c.6899+26C>A (n.6899+26C>A) c.7058+26C>A (n.7058+26C>A) c.7043+26C>A (n.7043+26C>A) c.6998+26C>A (n.6998+26C>A) c.6980+26C>A (n.6980+26C>A) c.6977+26C>A (n.6977+26C>A) c.6962+26C>A (n.6962+26C>A) c.6935+26C>A (n.6935+26C>A) c.6920+26C>A (n.6920+26C>A) c.6941+26C>A (n.6941+26C>A) c.6917+26C>A (n.6917+26C>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128632349C= | CA1880371297 | SPTAN1 | c.6995+26C= (n.6995+26C=) c.7022+26C= (n.7022+26C=) c.7046+26C= (n.7046+26C=) c.6485+26C= (n.6485+26C=) c.4564+26C= c.2901+26C= c.6959+26C= (n.6959+26C=) n.683+26C= c.6884+26C= (n.6884+26C=) c.6944+26C= (n.6944+26C=) n.913+26C= n.716+26C= c.6899+26C= (n.6899+26C=) c.7058+26C= (n.7058+26C=) c.7043+26C= (n.7043+26C=) c.6998+26C= (n.6998+26C=) c.6980+26C= (n.6980+26C=) c.6977+26C= (n.6977+26C=) c.6962+26C= (n.6962+26C=) c.6935+26C= (n.6935+26C=) c.6920+26C= (n.6920+26C=) c.6941+26C= (n.6941+26C=) c.6917+26C= (n.6917+26C=) | |
9 | g.128632349C>T | CA2720477823 | SPTAN1 | c.6995+26C>T (n.6995+26C>T) c.7022+26C>T (n.7022+26C>T) c.7046+26C>T (n.7046+26C>T) c.6485+26C>T (n.6485+26C>T) c.4564+26C>T c.2901+26C>T c.6959+26C>T (n.6959+26C>T) n.683+26C>T c.6884+26C>T (n.6884+26C>T) c.6944+26C>T (n.6944+26C>T) n.913+26C>T n.716+26C>T c.6899+26C>T (n.6899+26C>T) c.7058+26C>T (n.7058+26C>T) c.7043+26C>T (n.7043+26C>T) c.6998+26C>T (n.6998+26C>T) c.6980+26C>T (n.6980+26C>T) c.6977+26C>T (n.6977+26C>T) c.6962+26C>T (n.6962+26C>T) c.6935+26C>T (n.6935+26C>T) c.6920+26C>T (n.6920+26C>T) c.6941+26C>T (n.6941+26C>T) c.6917+26C>T (n.6917+26C>T) | dbSNP |
9 | g.128632350T>G | CA1880371299 | SPTAN1 | c.6995+27T>G (n.6995+27T>G) c.7022+27T>G (n.7022+27T>G) c.7046+27T>G (n.7046+27T>G) c.6485+27T>G (n.6485+27T>G) c.4564+27T>G c.2901+27T>G c.6959+27T>G (n.6959+27T>G) n.683+27T>G c.6884+27T>G (n.6884+27T>G) c.6944+27T>G (n.6944+27T>G) n.913+27T>G n.716+27T>G c.6899+27T>G (n.6899+27T>G) c.7058+27T>G (n.7058+27T>G) c.7043+27T>G (n.7043+27T>G) c.6998+27T>G (n.6998+27T>G) c.6980+27T>G (n.6980+27T>G) c.6977+27T>G (n.6977+27T>G) c.6962+27T>G (n.6962+27T>G) c.6935+27T>G (n.6935+27T>G) c.6920+27T>G (n.6920+27T>G) c.6941+27T>G (n.6941+27T>G) c.6917+27T>G (n.6917+27T>G) | dbSNP |
9 | g.128632350T= | CA1880371298 | SPTAN1 | c.6995+27T= (n.6995+27T=) c.7022+27T= (n.7022+27T=) c.7046+27T= (n.7046+27T=) c.6485+27T= (n.6485+27T=) c.4564+27T= c.2901+27T= c.6959+27T= (n.6959+27T=) n.683+27T= c.6884+27T= (n.6884+27T=) c.6944+27T= (n.6944+27T=) n.913+27T= n.716+27T= c.6899+27T= (n.6899+27T=) c.7058+27T= (n.7058+27T=) c.7043+27T= (n.7043+27T=) c.6998+27T= (n.6998+27T=) c.6980+27T= (n.6980+27T=) c.6977+27T= (n.6977+27T=) c.6962+27T= (n.6962+27T=) c.6935+27T= (n.6935+27T=) c.6920+27T= (n.6920+27T=) c.6941+27T= (n.6941+27T=) c.6917+27T= (n.6917+27T=) | |
9 | g.128632351_128632352del | CA2691941347 | SPTAN1 | c.6995+28_6995+29del (n.6995+28_6995+29del) c.7022+28_7022+29del (n.7022+28_7022+29del) c.7046+28_7046+29del (n.7046+28_7046+29del) c.6485+28_6485+29del (n.6485+28_6485+29del) c.4564+28_4564+29del c.2901+28_2901+29del c.6959+28_6959+29del (n.6959+28_6959+29del) n.683+28_683+29del c.6884+28_6884+29del (n.6884+28_6884+29del) c.6944+28_6944+29del (n.6944+28_6944+29del) n.913+28_913+29del n.716+28_716+29del c.6899+28_6899+29del (n.6899+28_6899+29del) c.7058+28_7058+29del (n.7058+28_7058+29del) c.7043+28_7043+29del (n.7043+28_7043+29del) c.6998+28_6998+29del (n.6998+28_6998+29del) c.6980+28_6980+29del (n.6980+28_6980+29del) c.6977+28_6977+29del (n.6977+28_6977+29del) c.6962+28_6962+29del (n.6962+28_6962+29del) c.6935+28_6935+29del (n.6935+28_6935+29del) c.6920+28_6920+29del (n.6920+28_6920+29del) c.6941+28_6941+29del (n.6941+28_6941+29del) c.6917+28_6917+29del (n.6917+28_6917+29del) | gnomAD v4 |
9 | g.128632351_128632352dup | CA5265937 | SPTAN1 | c.6995+28_6995+29dup (n.6995+28_6995+29dup) c.7022+28_7022+29dup (n.7022+28_7022+29dup) c.7046+28_7046+29dup (n.7046+28_7046+29dup) c.6485+28_6485+29dup (n.6485+28_6485+29dup) c.4564+28_4564+29dup c.2901+28_2901+29dup c.6959+28_6959+29dup (n.6959+28_6959+29dup) n.683+28_683+29dup c.6884+28_6884+29dup (n.6884+28_6884+29dup) c.6944+28_6944+29dup (n.6944+28_6944+29dup) n.913+28_913+29dup n.716+28_716+29dup c.6899+28_6899+29dup (n.6899+28_6899+29dup) c.7058+28_7058+29dup (n.7058+28_7058+29dup) c.7043+28_7043+29dup (n.7043+28_7043+29dup) c.6998+28_6998+29dup (n.6998+28_6998+29dup) c.6980+28_6980+29dup (n.6980+28_6980+29dup) c.6977+28_6977+29dup (n.6977+28_6977+29dup) c.6962+28_6962+29dup (n.6962+28_6962+29dup) c.6935+28_6935+29dup (n.6935+28_6935+29dup) c.6920+28_6920+29dup (n.6920+28_6920+29dup) c.6941+28_6941+29dup (n.6941+28_6941+29dup) c.6917+28_6917+29dup (n.6917+28_6917+29dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632353G>A | CA2579470532 | SPTAN1 | c.6995+30G>A (n.6995+30G>A) c.7022+30G>A (n.7022+30G>A) c.7046+30G>A (n.7046+30G>A) c.6485+30G>A (n.6485+30G>A) c.4564+30G>A c.2901+30G>A c.6959+30G>A (n.6959+30G>A) n.683+30G>A c.6884+30G>A (n.6884+30G>A) c.6944+30G>A (n.6944+30G>A) n.913+30G>A n.716+30G>A c.6899+30G>A (n.6899+30G>A) c.7058+30G>A (n.7058+30G>A) c.7043+30G>A (n.7043+30G>A) c.6998+30G>A (n.6998+30G>A) c.6980+30G>A (n.6980+30G>A) c.6977+30G>A (n.6977+30G>A) c.6962+30G>A (n.6962+30G>A) c.6935+30G>A (n.6935+30G>A) c.6920+30G>A (n.6920+30G>A) c.6941+30G>A (n.6941+30G>A) c.6917+30G>A (n.6917+30G>A) | |
9 | g.128632353G= | CA1880371300 | SPTAN1 | c.6995+30G= (n.6995+30G=) c.7022+30G= (n.7022+30G=) c.7046+30G= (n.7046+30G=) c.6485+30G= (n.6485+30G=) c.4564+30G= c.2901+30G= c.6959+30G= (n.6959+30G=) n.683+30G= c.6884+30G= (n.6884+30G=) c.6944+30G= (n.6944+30G=) n.913+30G= n.716+30G= c.6899+30G= (n.6899+30G=) c.7058+30G= (n.7058+30G=) c.7043+30G= (n.7043+30G=) c.6998+30G= (n.6998+30G=) c.6980+30G= (n.6980+30G=) c.6977+30G= (n.6977+30G=) c.6962+30G= (n.6962+30G=) c.6935+30G= (n.6935+30G=) c.6920+30G= (n.6920+30G=) c.6941+30G= (n.6941+30G=) c.6917+30G= (n.6917+30G=) | |
9 | g.128632353G>T | CA2691941348 | SPTAN1 | c.6995+30G>T (n.6995+30G>T) c.7022+30G>T (n.7022+30G>T) c.7046+30G>T (n.7046+30G>T) c.6485+30G>T (n.6485+30G>T) c.4564+30G>T c.2901+30G>T c.6959+30G>T (n.6959+30G>T) n.683+30G>T c.6884+30G>T (n.6884+30G>T) c.6944+30G>T (n.6944+30G>T) n.913+30G>T n.716+30G>T c.6899+30G>T (n.6899+30G>T) c.7058+30G>T (n.7058+30G>T) c.7043+30G>T (n.7043+30G>T) c.6998+30G>T (n.6998+30G>T) c.6980+30G>T (n.6980+30G>T) c.6977+30G>T (n.6977+30G>T) c.6962+30G>T (n.6962+30G>T) c.6935+30G>T (n.6935+30G>T) c.6920+30G>T (n.6920+30G>T) c.6941+30G>T (n.6941+30G>T) c.6917+30G>T (n.6917+30G>T) | gnomAD v4 |
9 | g.128632354C>A | CA590941605 | SPTAN1 | c.6995+31C>A (n.6995+31C>A) c.7022+31C>A (n.7022+31C>A) c.7046+31C>A (n.7046+31C>A) c.6485+31C>A (n.6485+31C>A) c.4564+31C>A c.2901+31C>A c.6959+31C>A (n.6959+31C>A) n.683+31C>A c.6884+31C>A (n.6884+31C>A) c.6944+31C>A (n.6944+31C>A) n.913+31C>A n.716+31C>A c.6899+31C>A (n.6899+31C>A) c.7058+31C>A (n.7058+31C>A) c.7043+31C>A (n.7043+31C>A) c.6998+31C>A (n.6998+31C>A) c.6980+31C>A (n.6980+31C>A) c.6977+31C>A (n.6977+31C>A) c.6962+31C>A (n.6962+31C>A) c.6935+31C>A (n.6935+31C>A) c.6920+31C>A (n.6920+31C>A) c.6941+31C>A (n.6941+31C>A) c.6917+31C>A (n.6917+31C>A) | dbSNP gnomAD v2 |
9 | g.128632354C= | CA1880371301 | SPTAN1 | c.6995+31C= (n.6995+31C=) c.7022+31C= (n.7022+31C=) c.7046+31C= (n.7046+31C=) c.6485+31C= (n.6485+31C=) c.4564+31C= c.2901+31C= c.6959+31C= (n.6959+31C=) n.683+31C= c.6884+31C= (n.6884+31C=) c.6944+31C= (n.6944+31C=) n.913+31C= n.716+31C= c.6899+31C= (n.6899+31C=) c.7058+31C= (n.7058+31C=) c.7043+31C= (n.7043+31C=) c.6998+31C= (n.6998+31C=) c.6980+31C= (n.6980+31C=) c.6977+31C= (n.6977+31C=) c.6962+31C= (n.6962+31C=) c.6935+31C= (n.6935+31C=) c.6920+31C= (n.6920+31C=) c.6941+31C= (n.6941+31C=) c.6917+31C= (n.6917+31C=) | |
9 | g.128632354C>T | CA590941606 | SPTAN1 | c.6995+31C>T (n.6995+31C>T) c.7022+31C>T (n.7022+31C>T) c.7046+31C>T (n.7046+31C>T) c.6485+31C>T (n.6485+31C>T) c.4564+31C>T c.2901+31C>T c.6959+31C>T (n.6959+31C>T) n.683+31C>T c.6884+31C>T (n.6884+31C>T) c.6944+31C>T (n.6944+31C>T) n.913+31C>T n.716+31C>T c.6899+31C>T (n.6899+31C>T) c.7058+31C>T (n.7058+31C>T) c.7043+31C>T (n.7043+31C>T) c.6998+31C>T (n.6998+31C>T) c.6980+31C>T (n.6980+31C>T) c.6977+31C>T (n.6977+31C>T) c.6962+31C>T (n.6962+31C>T) c.6935+31C>T (n.6935+31C>T) c.6920+31C>T (n.6920+31C>T) c.6941+31C>T (n.6941+31C>T) c.6917+31C>T (n.6917+31C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128632355_128632356insTGCTCCCC | CA5265938 | SPTAN1 | c.6995+32_6995+33insTGCTCCCC (n.6995+32_6995+33insTGCTCCCC) c.7022+32_7022+33insTGCTCCCC (n.7022+32_7022+33insTGCTCCCC) c.7046+32_7046+33insTGCTCCCC (n.7046+32_7046+33insTGCTCCCC) c.6485+32_6485+33insTGCTCCCC (n.6485+32_6485+33insTGCTCCCC) c.4564+32_4564+33insTGCTCCCC c.2901+32_2901+33insTGCTCCCC c.6959+32_6959+33insTGCTCCCC (n.6959+32_6959+33insTGCTCCCC) n.683+32_683+33insTGCTCCCC c.6884+32_6884+33insTGCTCCCC (n.6884+32_6884+33insTGCTCCCC) c.6944+32_6944+33insTGCTCCCC (n.6944+32_6944+33insTGCTCCCC) n.913+32_913+33insTGCTCCCC n.716+32_716+33insTGCTCCCC c.6899+32_6899+33insTGCTCCCC (n.6899+32_6899+33insTGCTCCCC) c.7058+32_7058+33insTGCTCCCC (n.7058+32_7058+33insTGCTCCCC) c.7043+32_7043+33insTGCTCCCC (n.7043+32_7043+33insTGCTCCCC) c.6998+32_6998+33insTGCTCCCC (n.6998+32_6998+33insTGCTCCCC) c.6980+32_6980+33insTGCTCCCC (n.6980+32_6980+33insTGCTCCCC) c.6977+32_6977+33insTGCTCCCC (n.6977+32_6977+33insTGCTCCCC) c.6962+32_6962+33insTGCTCCCC (n.6962+32_6962+33insTGCTCCCC) c.6935+32_6935+33insTGCTCCCC (n.6935+32_6935+33insTGCTCCCC) c.6920+32_6920+33insTGCTCCCC (n.6920+32_6920+33insTGCTCCCC) c.6941+32_6941+33insTGCTCCCC (n.6941+32_6941+33insTGCTCCCC) c.6917+32_6917+33insTGCTCCCC (n.6917+32_6917+33insTGCTCCCC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632356C>T | CA2691941349 | SPTAN1 | c.6995+33C>T (n.6995+33C>T) c.7022+33C>T (n.7022+33C>T) c.7046+33C>T (n.7046+33C>T) c.6485+33C>T (n.6485+33C>T) c.4564+33C>T c.2901+33C>T c.6959+33C>T (n.6959+33C>T) n.683+33C>T c.6884+33C>T (n.6884+33C>T) c.6944+33C>T (n.6944+33C>T) n.913+33C>T n.716+33C>T c.6899+33C>T (n.6899+33C>T) c.7058+33C>T (n.7058+33C>T) c.7043+33C>T (n.7043+33C>T) c.6998+33C>T (n.6998+33C>T) c.6980+33C>T (n.6980+33C>T) c.6977+33C>T (n.6977+33C>T) c.6962+33C>T (n.6962+33C>T) c.6935+33C>T (n.6935+33C>T) c.6920+33C>T (n.6920+33C>T) c.6941+33C>T (n.6941+33C>T) c.6917+33C>T (n.6917+33C>T) | gnomAD v4 |
9 | g.128632358G>T | CA2691941350 | SPTAN1 | c.6995+35G>T (n.6995+35G>T) c.7022+35G>T (n.7022+35G>T) c.7046+35G>T (n.7046+35G>T) c.6485+35G>T (n.6485+35G>T) c.4564+35G>T c.2901+35G>T c.6959+35G>T (n.6959+35G>T) n.683+35G>T c.6884+35G>T (n.6884+35G>T) c.6944+35G>T (n.6944+35G>T) n.913+35G>T n.716+35G>T c.6899+35G>T (n.6899+35G>T) c.7058+35G>T (n.7058+35G>T) c.7043+35G>T (n.7043+35G>T) c.6998+35G>T (n.6998+35G>T) c.6980+35G>T (n.6980+35G>T) c.6977+35G>T (n.6977+35G>T) c.6962+35G>T (n.6962+35G>T) c.6935+35G>T (n.6935+35G>T) c.6920+35G>T (n.6920+35G>T) c.6941+35G>T (n.6941+35G>T) c.6917+35G>T (n.6917+35G>T) | gnomAD v4 |
9 | g.128632360G>A | CA5265939 | SPTAN1 | c.6995+37G>A (n.6995+37G>A) c.7022+37G>A (n.7022+37G>A) c.7046+37G>A (n.7046+37G>A) c.6485+37G>A (n.6485+37G>A) c.4564+37G>A c.2901+37G>A c.6959+37G>A (n.6959+37G>A) n.683+37G>A c.6884+37G>A (n.6884+37G>A) c.6944+37G>A (n.6944+37G>A) n.913+37G>A n.716+37G>A c.6899+37G>A (n.6899+37G>A) c.7058+37G>A (n.7058+37G>A) c.7043+37G>A (n.7043+37G>A) c.6998+37G>A (n.6998+37G>A) c.6980+37G>A (n.6980+37G>A) c.6977+37G>A (n.6977+37G>A) c.6962+37G>A (n.6962+37G>A) c.6935+37G>A (n.6935+37G>A) c.6920+37G>A (n.6920+37G>A) c.6941+37G>A (n.6941+37G>A) c.6917+37G>A (n.6917+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632360G>C | CA2579470533 | SPTAN1 | c.6995+37G>C (n.6995+37G>C) c.7022+37G>C (n.7022+37G>C) c.7046+37G>C (n.7046+37G>C) c.6485+37G>C (n.6485+37G>C) c.4564+37G>C c.2901+37G>C c.6959+37G>C (n.6959+37G>C) n.683+37G>C c.6884+37G>C (n.6884+37G>C) c.6944+37G>C (n.6944+37G>C) n.913+37G>C n.716+37G>C c.6899+37G>C (n.6899+37G>C) c.7058+37G>C (n.7058+37G>C) c.7043+37G>C (n.7043+37G>C) c.6998+37G>C (n.6998+37G>C) c.6980+37G>C (n.6980+37G>C) c.6977+37G>C (n.6977+37G>C) c.6962+37G>C (n.6962+37G>C) c.6935+37G>C (n.6935+37G>C) c.6920+37G>C (n.6920+37G>C) c.6941+37G>C (n.6941+37G>C) c.6917+37G>C (n.6917+37G>C) | |
9 | g.128632360G= | CA1880371302 | SPTAN1 | c.6995+37G= (n.6995+37G=) c.7022+37G= (n.7022+37G=) c.7046+37G= (n.7046+37G=) c.6485+37G= (n.6485+37G=) c.4564+37G= c.2901+37G= c.6959+37G= (n.6959+37G=) n.683+37G= c.6884+37G= (n.6884+37G=) c.6944+37G= (n.6944+37G=) n.913+37G= n.716+37G= c.6899+37G= (n.6899+37G=) c.7058+37G= (n.7058+37G=) c.7043+37G= (n.7043+37G=) c.6998+37G= (n.6998+37G=) c.6980+37G= (n.6980+37G=) c.6977+37G= (n.6977+37G=) c.6962+37G= (n.6962+37G=) c.6935+37G= (n.6935+37G=) c.6920+37G= (n.6920+37G=) c.6941+37G= (n.6941+37G=) c.6917+37G= (n.6917+37G=) | |
9 | g.128632360G>T | CA5265940 | SPTAN1 | c.6995+37G>T (n.6995+37G>T) c.7022+37G>T (n.7022+37G>T) c.7046+37G>T (n.7046+37G>T) c.6485+37G>T (n.6485+37G>T) c.4564+37G>T c.2901+37G>T c.6959+37G>T (n.6959+37G>T) n.683+37G>T c.6884+37G>T (n.6884+37G>T) c.6944+37G>T (n.6944+37G>T) n.913+37G>T n.716+37G>T c.6899+37G>T (n.6899+37G>T) c.7058+37G>T (n.7058+37G>T) c.7043+37G>T (n.7043+37G>T) c.6998+37G>T (n.6998+37G>T) c.6980+37G>T (n.6980+37G>T) c.6977+37G>T (n.6977+37G>T) c.6962+37G>T (n.6962+37G>T) c.6935+37G>T (n.6935+37G>T) c.6920+37G>T (n.6920+37G>T) c.6941+37G>T (n.6941+37G>T) c.6917+37G>T (n.6917+37G>T) | dbSNP ExAC gnomAD v2 |
9 | g.128632361C>A | CA5265941 | SPTAN1 | c.6995+38C>A (n.6995+38C>A) c.7022+38C>A (n.7022+38C>A) c.7046+38C>A (n.7046+38C>A) c.6485+38C>A (n.6485+38C>A) c.4564+38C>A c.2901+38C>A c.6959+38C>A (n.6959+38C>A) n.683+38C>A c.6884+38C>A (n.6884+38C>A) c.6944+38C>A (n.6944+38C>A) n.913+38C>A n.716+38C>A c.6899+38C>A (n.6899+38C>A) c.7058+38C>A (n.7058+38C>A) c.7043+38C>A (n.7043+38C>A) c.6998+38C>A (n.6998+38C>A) c.6980+38C>A (n.6980+38C>A) c.6977+38C>A (n.6977+38C>A) c.6962+38C>A (n.6962+38C>A) c.6935+38C>A (n.6935+38C>A) c.6920+38C>A (n.6920+38C>A) c.6941+38C>A (n.6941+38C>A) c.6917+38C>A (n.6917+38C>A) | dbSNP ExAC gnomAD v2 |
9 | g.128632361C= | CA1880371303 | SPTAN1 | c.6995+38C= (n.6995+38C=) c.7022+38C= (n.7022+38C=) c.7046+38C= (n.7046+38C=) c.6485+38C= (n.6485+38C=) c.4564+38C= c.2901+38C= c.6959+38C= (n.6959+38C=) n.683+38C= c.6884+38C= (n.6884+38C=) c.6944+38C= (n.6944+38C=) n.913+38C= n.716+38C= c.6899+38C= (n.6899+38C=) c.7058+38C= (n.7058+38C=) c.7043+38C= (n.7043+38C=) c.6998+38C= (n.6998+38C=) c.6980+38C= (n.6980+38C=) c.6977+38C= (n.6977+38C=) c.6962+38C= (n.6962+38C=) c.6935+38C= (n.6935+38C=) c.6920+38C= (n.6920+38C=) c.6941+38C= (n.6941+38C=) c.6917+38C= (n.6917+38C=) | |
9 | g.128632361C>T | CA915825450 | SPTAN1 | c.6995+38C>T (n.6995+38C>T) c.7022+38C>T (n.7022+38C>T) c.7046+38C>T (n.7046+38C>T) c.6485+38C>T (n.6485+38C>T) c.4564+38C>T c.2901+38C>T c.6959+38C>T (n.6959+38C>T) n.683+38C>T c.6884+38C>T (n.6884+38C>T) c.6944+38C>T (n.6944+38C>T) n.913+38C>T n.716+38C>T c.6899+38C>T (n.6899+38C>T) c.7058+38C>T (n.7058+38C>T) c.7043+38C>T (n.7043+38C>T) c.6998+38C>T (n.6998+38C>T) c.6980+38C>T (n.6980+38C>T) c.6977+38C>T (n.6977+38C>T) c.6962+38C>T (n.6962+38C>T) c.6935+38C>T (n.6935+38C>T) c.6920+38C>T (n.6920+38C>T) c.6941+38C>T (n.6941+38C>T) c.6917+38C>T (n.6917+38C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632362A= | CA1880371304 | SPTAN1 | c.6995+39A= (n.6995+39A=) c.7022+39A= (n.7022+39A=) c.7046+39A= (n.7046+39A=) c.6485+39A= (n.6485+39A=) c.4564+39A= c.2901+39A= c.6959+39A= (n.6959+39A=) n.683+39A= c.6884+39A= (n.6884+39A=) c.6944+39A= (n.6944+39A=) n.913+39A= n.716+39A= c.6899+39A= (n.6899+39A=) c.7058+39A= (n.7058+39A=) c.7043+39A= (n.7043+39A=) c.6998+39A= (n.6998+39A=) c.6980+39A= (n.6980+39A=) c.6977+39A= (n.6977+39A=) c.6962+39A= (n.6962+39A=) c.6935+39A= (n.6935+39A=) c.6920+39A= (n.6920+39A=) c.6941+39A= (n.6941+39A=) c.6917+39A= (n.6917+39A=) | |
9 | g.128632362A>G | CA200412588 | SPTAN1 | c.6995+39A>G (n.6995+39A>G) c.7022+39A>G (n.7022+39A>G) c.7046+39A>G (n.7046+39A>G) c.6485+39A>G (n.6485+39A>G) c.4564+39A>G c.2901+39A>G c.6959+39A>G (n.6959+39A>G) n.683+39A>G c.6884+39A>G (n.6884+39A>G) c.6944+39A>G (n.6944+39A>G) n.913+39A>G n.716+39A>G c.6899+39A>G (n.6899+39A>G) c.7058+39A>G (n.7058+39A>G) c.7043+39A>G (n.7043+39A>G) c.6998+39A>G (n.6998+39A>G) c.6980+39A>G (n.6980+39A>G) c.6977+39A>G (n.6977+39A>G) c.6962+39A>G (n.6962+39A>G) c.6935+39A>G (n.6935+39A>G) c.6920+39A>G (n.6920+39A>G) c.6941+39A>G (n.6941+39A>G) c.6917+39A>G (n.6917+39A>G) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128632363G>A | CA200412594 | SPTAN1 | c.6995+40G>A (n.6995+40G>A) c.7022+40G>A (n.7022+40G>A) c.7046+40G>A (n.7046+40G>A) c.6485+40G>A (n.6485+40G>A) c.4564+40G>A c.2901+40G>A c.6959+40G>A (n.6959+40G>A) n.683+40G>A c.6884+40G>A (n.6884+40G>A) c.6944+40G>A (n.6944+40G>A) n.913+40G>A n.716+40G>A c.6899+40G>A (n.6899+40G>A) c.7058+40G>A (n.7058+40G>A) c.7043+40G>A (n.7043+40G>A) c.6998+40G>A (n.6998+40G>A) c.6980+40G>A (n.6980+40G>A) c.6977+40G>A (n.6977+40G>A) c.6962+40G>A (n.6962+40G>A) c.6935+40G>A (n.6935+40G>A) c.6920+40G>A (n.6920+40G>A) c.6941+40G>A (n.6941+40G>A) c.6917+40G>A (n.6917+40G>A) | dbSNP |
9 | g.128632363G>C | CA2691941351 | SPTAN1 | c.6995+40G>C (n.6995+40G>C) c.7022+40G>C (n.7022+40G>C) c.7046+40G>C (n.7046+40G>C) c.6485+40G>C (n.6485+40G>C) c.4564+40G>C c.2901+40G>C c.6959+40G>C (n.6959+40G>C) n.683+40G>C c.6884+40G>C (n.6884+40G>C) c.6944+40G>C (n.6944+40G>C) n.913+40G>C n.716+40G>C c.6899+40G>C (n.6899+40G>C) c.7058+40G>C (n.7058+40G>C) c.7043+40G>C (n.7043+40G>C) c.6998+40G>C (n.6998+40G>C) c.6980+40G>C (n.6980+40G>C) c.6977+40G>C (n.6977+40G>C) c.6962+40G>C (n.6962+40G>C) c.6935+40G>C (n.6935+40G>C) c.6920+40G>C (n.6920+40G>C) c.6941+40G>C (n.6941+40G>C) c.6917+40G>C (n.6917+40G>C) | gnomAD v4 |
9 | g.128632363G= | CA1880371305 | SPTAN1 | c.6995+40G= (n.6995+40G=) c.7022+40G= (n.7022+40G=) c.7046+40G= (n.7046+40G=) c.6485+40G= (n.6485+40G=) c.4564+40G= c.2901+40G= c.6959+40G= (n.6959+40G=) n.683+40G= c.6884+40G= (n.6884+40G=) c.6944+40G= (n.6944+40G=) n.913+40G= n.716+40G= c.6899+40G= (n.6899+40G=) c.7058+40G= (n.7058+40G=) c.7043+40G= (n.7043+40G=) c.6998+40G= (n.6998+40G=) c.6980+40G= (n.6980+40G=) c.6977+40G= (n.6977+40G=) c.6962+40G= (n.6962+40G=) c.6935+40G= (n.6935+40G=) c.6920+40G= (n.6920+40G=) c.6941+40G= (n.6941+40G=) c.6917+40G= (n.6917+40G=) | |
9 | g.128632363G>T | CA1129343412 | SPTAN1 | c.6995+40G>T (n.6995+40G>T) c.7022+40G>T (n.7022+40G>T) c.7046+40G>T (n.7046+40G>T) c.6485+40G>T (n.6485+40G>T) c.4564+40G>T c.2901+40G>T c.6959+40G>T (n.6959+40G>T) n.683+40G>T c.6884+40G>T (n.6884+40G>T) c.6944+40G>T (n.6944+40G>T) n.913+40G>T n.716+40G>T c.6899+40G>T (n.6899+40G>T) c.7058+40G>T (n.7058+40G>T) c.7043+40G>T (n.7043+40G>T) c.6998+40G>T (n.6998+40G>T) c.6980+40G>T (n.6980+40G>T) c.6977+40G>T (n.6977+40G>T) c.6962+40G>T (n.6962+40G>T) c.6935+40G>T (n.6935+40G>T) c.6920+40G>T (n.6920+40G>T) c.6941+40G>T (n.6941+40G>T) c.6917+40G>T (n.6917+40G>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128632367dup | CA5265942 | SPTAN1 | c.6995+44dup (n.6995+44dup) c.7022+44dup (n.7022+44dup) c.7046+44dup (n.7046+44dup) c.6485+44dup (n.6485+44dup) c.4564+44dup c.2901+44dup c.6959+44dup (n.6959+44dup) n.683+44dup c.6884+44dup (n.6884+44dup) c.6944+44dup (n.6944+44dup) n.913+44dup n.716+44dup c.6899+44dup (n.6899+44dup) c.7058+44dup (n.7058+44dup) c.7043+44dup (n.7043+44dup) c.6998+44dup (n.6998+44dup) c.6980+44dup (n.6980+44dup) c.6977+44dup (n.6977+44dup) c.6962+44dup (n.6962+44dup) c.6935+44dup (n.6935+44dup) c.6920+44dup (n.6920+44dup) c.6941+44dup (n.6941+44dup) c.6917+44dup (n.6917+44dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632364G>C | CA2691941352 | SPTAN1 | c.6995+41G>C (n.6995+41G>C) c.7022+41G>C (n.7022+41G>C) c.7046+41G>C (n.7046+41G>C) c.6485+41G>C (n.6485+41G>C) c.4564+41G>C c.2901+41G>C c.6959+41G>C (n.6959+41G>C) n.683+41G>C c.6884+41G>C (n.6884+41G>C) c.6944+41G>C (n.6944+41G>C) n.913+41G>C n.716+41G>C c.6899+41G>C (n.6899+41G>C) c.7058+41G>C (n.7058+41G>C) c.7043+41G>C (n.7043+41G>C) c.6998+41G>C (n.6998+41G>C) c.6980+41G>C (n.6980+41G>C) c.6977+41G>C (n.6977+41G>C) c.6962+41G>C (n.6962+41G>C) c.6935+41G>C (n.6935+41G>C) c.6920+41G>C (n.6920+41G>C) c.6941+41G>C (n.6941+41G>C) c.6917+41G>C (n.6917+41G>C) | gnomAD v4 |
9 | g.128632365G>A | CA2691941353 | SPTAN1 | c.6995+42G>A (n.6995+42G>A) c.7022+42G>A (n.7022+42G>A) c.7046+42G>A (n.7046+42G>A) c.6485+42G>A (n.6485+42G>A) c.4564+42G>A c.2901+42G>A c.6959+42G>A (n.6959+42G>A) n.683+42G>A c.6884+42G>A (n.6884+42G>A) c.6944+42G>A (n.6944+42G>A) n.913+42G>A n.716+42G>A c.6899+42G>A (n.6899+42G>A) c.7058+42G>A (n.7058+42G>A) c.7043+42G>A (n.7043+42G>A) c.6998+42G>A (n.6998+42G>A) c.6980+42G>A (n.6980+42G>A) c.6977+42G>A (n.6977+42G>A) c.6962+42G>A (n.6962+42G>A) c.6935+42G>A (n.6935+42G>A) c.6920+42G>A (n.6920+42G>A) c.6941+42G>A (n.6941+42G>A) c.6917+42G>A (n.6917+42G>A) | gnomAD v4 |
9 | g.128632365G>T | CA2691941354 | SPTAN1 | c.6995+42G>T (n.6995+42G>T) c.7022+42G>T (n.7022+42G>T) c.7046+42G>T (n.7046+42G>T) c.6485+42G>T (n.6485+42G>T) c.4564+42G>T c.2901+42G>T c.6959+42G>T (n.6959+42G>T) n.683+42G>T c.6884+42G>T (n.6884+42G>T) c.6944+42G>T (n.6944+42G>T) n.913+42G>T n.716+42G>T c.6899+42G>T (n.6899+42G>T) c.7058+42G>T (n.7058+42G>T) c.7043+42G>T (n.7043+42G>T) c.6998+42G>T (n.6998+42G>T) c.6980+42G>T (n.6980+42G>T) c.6977+42G>T (n.6977+42G>T) c.6962+42G>T (n.6962+42G>T) c.6935+42G>T (n.6935+42G>T) c.6920+42G>T (n.6920+42G>T) c.6941+42G>T (n.6941+42G>T) c.6917+42G>T (n.6917+42G>T) | gnomAD v4 |
9 | g.128632366G>A | CA2691941355 | SPTAN1 | c.6995+43G>A (n.6995+43G>A) c.7022+43G>A (n.7022+43G>A) c.7046+43G>A (n.7046+43G>A) c.6485+43G>A (n.6485+43G>A) c.4564+43G>A c.2901+43G>A c.6959+43G>A (n.6959+43G>A) n.683+43G>A c.6884+43G>A (n.6884+43G>A) c.6944+43G>A (n.6944+43G>A) n.913+43G>A n.716+43G>A c.6899+43G>A (n.6899+43G>A) c.7058+43G>A (n.7058+43G>A) c.7043+43G>A (n.7043+43G>A) c.6998+43G>A (n.6998+43G>A) c.6980+43G>A (n.6980+43G>A) c.6977+43G>A (n.6977+43G>A) c.6962+43G>A (n.6962+43G>A) c.6935+43G>A (n.6935+43G>A) c.6920+43G>A (n.6920+43G>A) c.6941+43G>A (n.6941+43G>A) c.6917+43G>A (n.6917+43G>A) | gnomAD v4 |
9 | g.128632367G>A | CA5265943 | SPTAN1 | c.6995+44G>A (n.6995+44G>A) c.7022+44G>A (n.7022+44G>A) c.7046+44G>A (n.7046+44G>A) c.6485+44G>A (n.6485+44G>A) c.4564+44G>A c.2901+44G>A c.6959+44G>A (n.6959+44G>A) n.683+44G>A c.6884+44G>A (n.6884+44G>A) c.6944+44G>A (n.6944+44G>A) n.913+44G>A n.716+44G>A c.6899+44G>A (n.6899+44G>A) c.7058+44G>A (n.7058+44G>A) c.7043+44G>A (n.7043+44G>A) c.6998+44G>A (n.6998+44G>A) c.6980+44G>A (n.6980+44G>A) c.6977+44G>A (n.6977+44G>A) c.6962+44G>A (n.6962+44G>A) c.6935+44G>A (n.6935+44G>A) c.6920+44G>A (n.6920+44G>A) c.6941+44G>A (n.6941+44G>A) c.6917+44G>A (n.6917+44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632367G= | CA1880371306 | SPTAN1 | c.6995+44G= (n.6995+44G=) c.7022+44G= (n.7022+44G=) c.7046+44G= (n.7046+44G=) c.6485+44G= (n.6485+44G=) c.4564+44G= c.2901+44G= c.6959+44G= (n.6959+44G=) n.683+44G= c.6884+44G= (n.6884+44G=) c.6944+44G= (n.6944+44G=) n.913+44G= n.716+44G= c.6899+44G= (n.6899+44G=) c.7058+44G= (n.7058+44G=) c.7043+44G= (n.7043+44G=) c.6998+44G= (n.6998+44G=) c.6980+44G= (n.6980+44G=) c.6977+44G= (n.6977+44G=) c.6962+44G= (n.6962+44G=) c.6935+44G= (n.6935+44G=) c.6920+44G= (n.6920+44G=) c.6941+44G= (n.6941+44G=) c.6917+44G= (n.6917+44G=) | |
9 | g.128632367G>T | CA2567031388 | SPTAN1 | c.6995+44G>T (n.6995+44G>T) c.7022+44G>T (n.7022+44G>T) c.7046+44G>T (n.7046+44G>T) c.6485+44G>T (n.6485+44G>T) c.4564+44G>T c.2901+44G>T c.6959+44G>T (n.6959+44G>T) n.683+44G>T c.6884+44G>T (n.6884+44G>T) c.6944+44G>T (n.6944+44G>T) n.913+44G>T n.716+44G>T c.6899+44G>T (n.6899+44G>T) c.7058+44G>T (n.7058+44G>T) c.7043+44G>T (n.7043+44G>T) c.6998+44G>T (n.6998+44G>T) c.6980+44G>T (n.6980+44G>T) c.6977+44G>T (n.6977+44G>T) c.6962+44G>T (n.6962+44G>T) c.6935+44G>T (n.6935+44G>T) c.6920+44G>T (n.6920+44G>T) c.6941+44G>T (n.6941+44G>T) c.6917+44G>T (n.6917+44G>T) | |
9 | g.128632368A>G | CA2691941356 | SPTAN1 | c.6995+45A>G (n.6995+45A>G) c.7022+45A>G (n.7022+45A>G) c.7046+45A>G (n.7046+45A>G) c.6485+45A>G (n.6485+45A>G) c.4564+45A>G c.2901+45A>G c.6959+45A>G (n.6959+45A>G) n.683+45A>G c.6884+45A>G (n.6884+45A>G) c.6944+45A>G (n.6944+45A>G) n.913+45A>G n.716+45A>G c.6899+45A>G (n.6899+45A>G) c.7058+45A>G (n.7058+45A>G) c.7043+45A>G (n.7043+45A>G) c.6998+45A>G (n.6998+45A>G) c.6980+45A>G (n.6980+45A>G) c.6977+45A>G (n.6977+45A>G) c.6962+45A>G (n.6962+45A>G) c.6935+45A>G (n.6935+45A>G) c.6920+45A>G (n.6920+45A>G) c.6941+45A>G (n.6941+45A>G) c.6917+45A>G (n.6917+45A>G) | gnomAD v4 |
9 | g.128632369G>A | CA5265944 | SPTAN1 | c.6995+46G>A (n.6995+46G>A) c.7022+46G>A (n.7022+46G>A) c.7046+46G>A (n.7046+46G>A) c.6485+46G>A (n.6485+46G>A) c.4564+46G>A c.2901+46G>A c.6959+46G>A (n.6959+46G>A) n.683+46G>A c.6884+46G>A (n.6884+46G>A) c.6944+46G>A (n.6944+46G>A) n.913+46G>A n.716+46G>A c.6899+46G>A (n.6899+46G>A) c.7058+46G>A (n.7058+46G>A) c.7043+46G>A (n.7043+46G>A) c.6998+46G>A (n.6998+46G>A) c.6980+46G>A (n.6980+46G>A) c.6977+46G>A (n.6977+46G>A) c.6962+46G>A (n.6962+46G>A) c.6935+46G>A (n.6935+46G>A) c.6920+46G>A (n.6920+46G>A) c.6941+46G>A (n.6941+46G>A) c.6917+46G>A (n.6917+46G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632369G= | CA1880371307 | SPTAN1 | c.6995+46G= (n.6995+46G=) c.7022+46G= (n.7022+46G=) c.7046+46G= (n.7046+46G=) c.6485+46G= (n.6485+46G=) c.4564+46G= c.2901+46G= c.6959+46G= (n.6959+46G=) n.683+46G= c.6884+46G= (n.6884+46G=) c.6944+46G= (n.6944+46G=) n.913+46G= n.716+46G= c.6899+46G= (n.6899+46G=) c.7058+46G= (n.7058+46G=) c.7043+46G= (n.7043+46G=) c.6998+46G= (n.6998+46G=) c.6980+46G= (n.6980+46G=) c.6977+46G= (n.6977+46G=) c.6962+46G= (n.6962+46G=) c.6935+46G= (n.6935+46G=) c.6920+46G= (n.6920+46G=) c.6941+46G= (n.6941+46G=) c.6917+46G= (n.6917+46G=) | |
9 | g.128632369G>T | CA2839405739 | SPTAN1 | c.6995+46G>T (n.6995+46G>T) c.7022+46G>T (n.7022+46G>T) c.7046+46G>T (n.7046+46G>T) c.6485+46G>T (n.6485+46G>T) c.4564+46G>T c.2901+46G>T c.6959+46G>T (n.6959+46G>T) n.683+46G>T c.6884+46G>T (n.6884+46G>T) c.6944+46G>T (n.6944+46G>T) n.913+46G>T n.716+46G>T c.6899+46G>T (n.6899+46G>T) c.7058+46G>T (n.7058+46G>T) c.7043+46G>T (n.7043+46G>T) c.6998+46G>T (n.6998+46G>T) c.6980+46G>T (n.6980+46G>T) c.6977+46G>T (n.6977+46G>T) c.6962+46G>T (n.6962+46G>T) c.6935+46G>T (n.6935+46G>T) c.6920+46G>T (n.6920+46G>T) c.6941+46G>T (n.6941+46G>T) c.6917+46G>T (n.6917+46G>T) | |
9 | g.128632370del | CA2691941357 | SPTAN1 | c.6995+47del (n.6995+47del) c.7022+47del (n.7022+47del) c.7046+47del (n.7046+47del) c.6485+47del (n.6485+47del) c.4564+47del c.2901+47del c.6959+47del (n.6959+47del) n.683+47del c.6884+47del (n.6884+47del) c.6944+47del (n.6944+47del) n.913+47del n.716+47del c.6899+47del (n.6899+47del) c.7058+47del (n.7058+47del) c.7043+47del (n.7043+47del) c.6998+47del (n.6998+47del) c.6980+47del (n.6980+47del) c.6977+47del (n.6977+47del) c.6962+47del (n.6962+47del) c.6935+47del (n.6935+47del) c.6920+47del (n.6920+47del) c.6941+47del (n.6941+47del) c.6917+47del (n.6917+47del) | gnomAD v4 |
9 | g.128632370_128632372delinsGAA | CA1880371308 | SPTAN1 | c.6995+47_6995+49delinsGAA (n.6995+47_6995+49delinsGAA) c.7022+47_7022+49delinsGAA (n.7022+47_7022+49delinsGAA) c.7046+47_7046+49delinsGAA (n.7046+47_7046+49delinsGAA) c.6485+47_6485+49delinsGAA (n.6485+47_6485+49delinsGAA) c.4564+47_4564+49delinsGAA c.2901+47_2901+49delinsGAA c.6959+47_6959+49delinsGAA (n.6959+47_6959+49delinsGAA) n.683+47_683+49delinsGAA c.6884+47_6884+49delinsGAA (n.6884+47_6884+49delinsGAA) c.6944+47_6944+49delinsGAA (n.6944+47_6944+49delinsGAA) n.913+47_913+49delinsGAA n.716+47_716+49delinsGAA c.6899+47_6899+49delinsGAA (n.6899+47_6899+49delinsGAA) c.7058+47_7058+49delinsGAA (n.7058+47_7058+49delinsGAA) c.7043+47_7043+49delinsGAA (n.7043+47_7043+49delinsGAA) c.6998+47_6998+49delinsGAA (n.6998+47_6998+49delinsGAA) c.6980+47_6980+49delinsGAA (n.6980+47_6980+49delinsGAA) c.6977+47_6977+49delinsGAA (n.6977+47_6977+49delinsGAA) c.6962+47_6962+49delinsGAA (n.6962+47_6962+49delinsGAA) c.6935+47_6935+49delinsGAA (n.6935+47_6935+49delinsGAA) c.6920+47_6920+49delinsGAA (n.6920+47_6920+49delinsGAA) c.6941+47_6941+49delinsGAA (n.6941+47_6941+49delinsGAA) c.6917+47_6917+49delinsGAA (n.6917+47_6917+49delinsGAA) | |
9 | g.128632371A>G | CA2579470534 | SPTAN1 | c.6995+48A>G (n.6995+48A>G) c.7022+48A>G (n.7022+48A>G) c.7046+48A>G (n.7046+48A>G) c.6485+48A>G (n.6485+48A>G) c.4564+48A>G c.2901+48A>G c.6959+48A>G (n.6959+48A>G) n.683+48A>G c.6884+48A>G (n.6884+48A>G) c.6944+48A>G (n.6944+48A>G) n.913+48A>G n.716+48A>G c.6899+48A>G (n.6899+48A>G) c.7058+48A>G (n.7058+48A>G) c.7043+48A>G (n.7043+48A>G) c.6998+48A>G (n.6998+48A>G) c.6980+48A>G (n.6980+48A>G) c.6977+48A>G (n.6977+48A>G) c.6962+48A>G (n.6962+48A>G) c.6935+48A>G (n.6935+48A>G) c.6920+48A>G (n.6920+48A>G) c.6941+48A>G (n.6941+48A>G) c.6917+48A>G (n.6917+48A>G) | |
9 | g.128632373_128632374del | CA5265945 | SPTAN1 | c.6995+50_6995+51del (n.6995+50_6995+51del) c.7022+50_7022+51del (n.7022+50_7022+51del) c.7046+50_7046+51del (n.7046+50_7046+51del) c.6485+50_6485+51del (n.6485+50_6485+51del) c.4564+50_4564+51del c.2901+50_2901+51del c.6959+50_6959+51del (n.6959+50_6959+51del) n.683+50_683+51del c.6884+50_6884+51del (n.6884+50_6884+51del) c.6944+50_6944+51del (n.6944+50_6944+51del) n.913+50_913+51del n.716+50_716+51del c.6899+50_6899+51del (n.6899+50_6899+51del) c.7058+50_7058+51del (n.7058+50_7058+51del) c.7043+50_7043+51del (n.7043+50_7043+51del) c.6998+50_6998+51del (n.6998+50_6998+51del) c.6980+50_6980+51del (n.6980+50_6980+51del) c.6977+50_6977+51del (n.6977+50_6977+51del) c.6962+50_6962+51del (n.6962+50_6962+51del) c.6935+50_6935+51del (n.6935+50_6935+51del) c.6920+50_6920+51del (n.6920+50_6920+51del) c.6941+50_6941+51del (n.6941+50_6941+51del) c.6917+50_6917+51del (n.6917+50_6917+51del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632373A>G | CA2691941358 | SPTAN1 | c.6995+50A>G (n.6995+50A>G) c.7022+50A>G (n.7022+50A>G) c.7046+50A>G (n.7046+50A>G) c.6485+50A>G (n.6485+50A>G) c.4564+50A>G c.2901+50A>G c.6959+50A>G (n.6959+50A>G) n.683+50A>G c.6884+50A>G (n.6884+50A>G) c.6944+50A>G (n.6944+50A>G) n.913+50A>G n.716+50A>G c.6899+50A>G (n.6899+50A>G) c.7058+50A>G (n.7058+50A>G) c.7043+50A>G (n.7043+50A>G) c.6998+50A>G (n.6998+50A>G) c.6980+50A>G (n.6980+50A>G) c.6977+50A>G (n.6977+50A>G) c.6962+50A>G (n.6962+50A>G) c.6935+50A>G (n.6935+50A>G) c.6920+50A>G (n.6920+50A>G) c.6941+50A>G (n.6941+50A>G) c.6917+50A>G (n.6917+50A>G) | gnomAD v4 |
9 | g.128632374A= | CA1880371309 | SPTAN1 | c.6995+51A= (n.6995+51A=) c.7022+51A= (n.7022+51A=) c.7046+51A= (n.7046+51A=) c.6485+51A= (n.6485+51A=) c.4564+51A= c.2901+51A= c.6959+51A= (n.6959+51A=) n.683+51A= c.6884+51A= (n.6884+51A=) c.6944+51A= (n.6944+51A=) n.913+51A= n.716+51A= c.6899+51A= (n.6899+51A=) c.7058+51A= (n.7058+51A=) c.7043+51A= (n.7043+51A=) c.6998+51A= (n.6998+51A=) c.6980+51A= (n.6980+51A=) c.6977+51A= (n.6977+51A=) c.6962+51A= (n.6962+51A=) c.6935+51A= (n.6935+51A=) c.6920+51A= (n.6920+51A=) c.6941+51A= (n.6941+51A=) c.6917+51A= (n.6917+51A=) | |
9 | g.128632374A>C | CA590941607 | SPTAN1 | c.6995+51A>C (n.6995+51A>C) c.7022+51A>C (n.7022+51A>C) c.7046+51A>C (n.7046+51A>C) c.6485+51A>C (n.6485+51A>C) c.4564+51A>C c.2901+51A>C c.6959+51A>C (n.6959+51A>C) n.683+51A>C c.6884+51A>C (n.6884+51A>C) c.6944+51A>C (n.6944+51A>C) n.913+51A>C n.716+51A>C c.6899+51A>C (n.6899+51A>C) c.7058+51A>C (n.7058+51A>C) c.7043+51A>C (n.7043+51A>C) c.6998+51A>C (n.6998+51A>C) c.6980+51A>C (n.6980+51A>C) c.6977+51A>C (n.6977+51A>C) c.6962+51A>C (n.6962+51A>C) c.6935+51A>C (n.6935+51A>C) c.6920+51A>C (n.6920+51A>C) c.6941+51A>C (n.6941+51A>C) c.6917+51A>C (n.6917+51A>C) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128632375_128632377delinsGAC | CA1880371310 | SPTAN1 | c.6995+52_6996-54delinsGAC (n.6995+52_6996-54delinsGAC) c.7022+52_7023-54delinsGAC (n.7022+52_7023-54delinsGAC) c.7046+52_7047-54delinsGAC (n.7046+52_7047-54delinsGAC) c.6485+52_6486-54delinsGAC (n.6485+52_6486-54delinsGAC) c.4564+52_4565-54delinsGAC c.2901+52_2902-54delinsGAC c.6959+52_6960-54delinsGAC (n.6959+52_6960-54delinsGAC) n.683+52_684-54delinsGAC c.6884+52_6885-54delinsGAC (n.6884+52_6885-54delinsGAC) c.6944+52_6945-54delinsGAC (n.6944+52_6945-54delinsGAC) n.913+52_914-54delinsGAC n.716+52_717-54delinsGAC c.6899+52_6900-54delinsGAC (n.6899+52_6900-54delinsGAC) c.7058+52_7059-54delinsGAC (n.7058+52_7059-54delinsGAC) c.7043+52_7044-54delinsGAC (n.7043+52_7044-54delinsGAC) c.6998+52_6999-54delinsGAC (n.6998+52_6999-54delinsGAC) c.6980+52_6981-54delinsGAC (n.6980+52_6981-54delinsGAC) c.6977+52_6978-54delinsGAC (n.6977+52_6978-54delinsGAC) c.6962+52_6963-54delinsGAC (n.6962+52_6963-54delinsGAC) c.6935+52_6936-54delinsGAC (n.6935+52_6936-54delinsGAC) c.6920+52_6921-54delinsGAC (n.6920+52_6921-54delinsGAC) c.6941+52_6942-54delinsGAC (n.6941+52_6942-54delinsGAC) c.6917+52_6918-54delinsGAC (n.6917+52_6918-54delinsGAC) | |
9 | g.128632379_128632380del | CA5265946 | SPTAN1 | c.6996-52_6996-51del (n.6996-52_6996-51del) c.7023-52_7023-51del (n.7023-52_7023-51del) c.7047-52_7047-51del (n.7047-52_7047-51del) c.6486-52_6486-51del (n.6486-52_6486-51del) c.4565-52_4565-51del c.2902-52_2902-51del c.6960-52_6960-51del (n.6960-52_6960-51del) n.684-52_684-51del c.6885-52_6885-51del (n.6885-52_6885-51del) c.6945-52_6945-51del (n.6945-52_6945-51del) n.914-52_914-51del n.717-52_717-51del c.6900-52_6900-51del (n.6900-52_6900-51del) c.7059-52_7059-51del (n.7059-52_7059-51del) c.7044-52_7044-51del (n.7044-52_7044-51del) c.6999-52_6999-51del (n.6999-52_6999-51del) c.6981-52_6981-51del (n.6981-52_6981-51del) c.6978-52_6978-51del (n.6978-52_6978-51del) c.6963-52_6963-51del (n.6963-52_6963-51del) c.6936-52_6936-51del (n.6936-52_6936-51del) c.6921-52_6921-51del (n.6921-52_6921-51del) c.6942-52_6942-51del (n.6942-52_6942-51del) c.6918-52_6918-51del (n.6918-52_6918-51del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632377C= | CA1880371311 | SPTAN1 | c.6996-54C= (n.6996-54C=) c.7023-54C= (n.7023-54C=) c.7047-54C= (n.7047-54C=) c.6486-54C= (n.6486-54C=) c.4565-54C= c.2902-54C= c.6960-54C= (n.6960-54C=) n.684-54C= c.6885-54C= (n.6885-54C=) c.6945-54C= (n.6945-54C=) n.914-54C= n.717-54C= c.6900-54C= (n.6900-54C=) c.7059-54C= (n.7059-54C=) c.7044-54C= (n.7044-54C=) c.6999-54C= (n.6999-54C=) c.6981-54C= (n.6981-54C=) c.6978-54C= (n.6978-54C=) c.6963-54C= (n.6963-54C=) c.6936-54C= (n.6936-54C=) c.6921-54C= (n.6921-54C=) c.6942-54C= (n.6942-54C=) c.6918-54C= (n.6918-54C=) | |
9 | g.128632377C>T | CA1880371312 | SPTAN1 | c.6996-54C>T (n.6996-54C>T) c.7023-54C>T (n.7023-54C>T) c.7047-54C>T (n.7047-54C>T) c.6486-54C>T (n.6486-54C>T) c.4565-54C>T c.2902-54C>T c.6960-54C>T (n.6960-54C>T) n.684-54C>T c.6885-54C>T (n.6885-54C>T) c.6945-54C>T (n.6945-54C>T) n.914-54C>T n.717-54C>T c.6900-54C>T (n.6900-54C>T) c.7059-54C>T (n.7059-54C>T) c.7044-54C>T (n.7044-54C>T) c.6999-54C>T (n.6999-54C>T) c.6981-54C>T (n.6981-54C>T) c.6978-54C>T (n.6978-54C>T) c.6963-54C>T (n.6963-54C>T) c.6936-54C>T (n.6936-54C>T) c.6921-54C>T (n.6921-54C>T) c.6942-54C>T (n.6942-54C>T) c.6918-54C>T (n.6918-54C>T) | dbSNP gnomAD v4 |
9 | g.128632379C>G | CA2691941360 | SPTAN1 | c.6996-52C>G (n.6996-52C>G) c.7023-52C>G (n.7023-52C>G) c.7047-52C>G (n.7047-52C>G) c.6486-52C>G (n.6486-52C>G) c.4565-52C>G c.2902-52C>G c.6960-52C>G (n.6960-52C>G) n.684-52C>G c.6885-52C>G (n.6885-52C>G) c.6945-52C>G (n.6945-52C>G) n.914-52C>G n.717-52C>G c.6900-52C>G (n.6900-52C>G) c.7059-52C>G (n.7059-52C>G) c.7044-52C>G (n.7044-52C>G) c.6999-52C>G (n.6999-52C>G) c.6981-52C>G (n.6981-52C>G) c.6978-52C>G (n.6978-52C>G) c.6963-52C>G (n.6963-52C>G) c.6936-52C>G (n.6936-52C>G) c.6921-52C>G (n.6921-52C>G) c.6942-52C>G (n.6942-52C>G) c.6918-52C>G (n.6918-52C>G) | gnomAD v4 |
9 | g.128632379C>T | CA2691941361 | SPTAN1 | c.6996-52C>T (n.6996-52C>T) c.7023-52C>T (n.7023-52C>T) c.7047-52C>T (n.7047-52C>T) c.6486-52C>T (n.6486-52C>T) c.4565-52C>T c.2902-52C>T c.6960-52C>T (n.6960-52C>T) n.684-52C>T c.6885-52C>T (n.6885-52C>T) c.6945-52C>T (n.6945-52C>T) n.914-52C>T n.717-52C>T c.6900-52C>T (n.6900-52C>T) c.7059-52C>T (n.7059-52C>T) c.7044-52C>T (n.7044-52C>T) c.6999-52C>T (n.6999-52C>T) c.6981-52C>T (n.6981-52C>T) c.6978-52C>T (n.6978-52C>T) c.6963-52C>T (n.6963-52C>T) c.6936-52C>T (n.6936-52C>T) c.6921-52C>T (n.6921-52C>T) c.6942-52C>T (n.6942-52C>T) c.6918-52C>T (n.6918-52C>T) | dbSNP gnomAD v4 |
9 | g.128632381_128632384dup | CA2691941359 | SPTAN1 | c.6996-50_6996-47dup (n.6996-50_6996-47dup) c.7023-50_7023-47dup (n.7023-50_7023-47dup) c.7047-50_7047-47dup (n.7047-50_7047-47dup) c.6486-50_6486-47dup (n.6486-50_6486-47dup) c.4565-50_4565-47dup c.2902-50_2902-47dup c.6960-50_6960-47dup (n.6960-50_6960-47dup) n.684-50_684-47dup c.6885-50_6885-47dup (n.6885-50_6885-47dup) c.6945-50_6945-47dup (n.6945-50_6945-47dup) n.914-50_914-47dup n.717-50_717-47dup c.6900-50_6900-47dup (n.6900-50_6900-47dup) c.7059-50_7059-47dup (n.7059-50_7059-47dup) c.7044-50_7044-47dup (n.7044-50_7044-47dup) c.6999-50_6999-47dup (n.6999-50_6999-47dup) c.6981-50_6981-47dup (n.6981-50_6981-47dup) c.6978-50_6978-47dup (n.6978-50_6978-47dup) c.6963-50_6963-47dup (n.6963-50_6963-47dup) c.6936-50_6936-47dup (n.6936-50_6936-47dup) c.6921-50_6921-47dup (n.6921-50_6921-47dup) c.6942-50_6942-47dup (n.6942-50_6942-47dup) c.6918-50_6918-47dup (n.6918-50_6918-47dup) | gnomAD v4 |
9 | g.128632380A= | CA1880371313 | SPTAN1 | c.6996-51A= (n.6996-51A=) c.7023-51A= (n.7023-51A=) c.7047-51A= (n.7047-51A=) c.6486-51A= (n.6486-51A=) c.4565-51A= c.2902-51A= c.6960-51A= (n.6960-51A=) n.684-51A= c.6885-51A= (n.6885-51A=) c.6945-51A= (n.6945-51A=) n.914-51A= n.717-51A= c.6900-51A= (n.6900-51A=) c.7059-51A= (n.7059-51A=) c.7044-51A= (n.7044-51A=) c.6999-51A= (n.6999-51A=) c.6981-51A= (n.6981-51A=) c.6978-51A= (n.6978-51A=) c.6963-51A= (n.6963-51A=) c.6936-51A= (n.6936-51A=) c.6921-51A= (n.6921-51A=) c.6942-51A= (n.6942-51A=) c.6918-51A= (n.6918-51A=) | |
9 | g.128632380A>G | CA2579470535 | SPTAN1 | c.6996-51A>G (n.6996-51A>G) c.7023-51A>G (n.7023-51A>G) c.7047-51A>G (n.7047-51A>G) c.6486-51A>G (n.6486-51A>G) c.4565-51A>G c.2902-51A>G c.6960-51A>G (n.6960-51A>G) n.684-51A>G c.6885-51A>G (n.6885-51A>G) c.6945-51A>G (n.6945-51A>G) n.914-51A>G n.717-51A>G c.6900-51A>G (n.6900-51A>G) c.7059-51A>G (n.7059-51A>G) c.7044-51A>G (n.7044-51A>G) c.6999-51A>G (n.6999-51A>G) c.6981-51A>G (n.6981-51A>G) c.6978-51A>G (n.6978-51A>G) c.6963-51A>G (n.6963-51A>G) c.6936-51A>G (n.6936-51A>G) c.6921-51A>G (n.6921-51A>G) c.6942-51A>G (n.6942-51A>G) c.6918-51A>G (n.6918-51A>G) | dbSNP gnomAD v4 |
9 | g.128632380dup | CA2691941362 | SPTAN1 | c.6996-51dup (n.6996-51dup) c.7023-51dup (n.7023-51dup) c.7047-51dup (n.7047-51dup) c.6486-51dup (n.6486-51dup) c.4565-51dup c.2902-51dup c.6960-51dup (n.6960-51dup) n.684-51dup c.6885-51dup (n.6885-51dup) c.6945-51dup (n.6945-51dup) n.914-51dup n.717-51dup c.6900-51dup (n.6900-51dup) c.7059-51dup (n.7059-51dup) c.7044-51dup (n.7044-51dup) c.6999-51dup (n.6999-51dup) c.6981-51dup (n.6981-51dup) c.6978-51dup (n.6978-51dup) c.6963-51dup (n.6963-51dup) c.6936-51dup (n.6936-51dup) c.6921-51dup (n.6921-51dup) c.6942-51dup (n.6942-51dup) c.6918-51dup (n.6918-51dup) | gnomAD v4 |
9 | g.128632381G>A | CA2837808108 | SPTAN1 | c.6996-50G>A (n.6996-50G>A) c.7023-50G>A (n.7023-50G>A) c.7047-50G>A (n.7047-50G>A) c.6486-50G>A (n.6486-50G>A) c.4565-50G>A c.2902-50G>A c.6960-50G>A (n.6960-50G>A) n.684-50G>A c.6885-50G>A (n.6885-50G>A) c.6945-50G>A (n.6945-50G>A) n.914-50G>A n.717-50G>A c.6900-50G>A (n.6900-50G>A) c.7059-50G>A (n.7059-50G>A) c.7044-50G>A (n.7044-50G>A) c.6999-50G>A (n.6999-50G>A) c.6981-50G>A (n.6981-50G>A) c.6978-50G>A (n.6978-50G>A) c.6963-50G>A (n.6963-50G>A) c.6936-50G>A (n.6936-50G>A) c.6921-50G>A (n.6921-50G>A) c.6942-50G>A (n.6942-50G>A) c.6918-50G>A (n.6918-50G>A) | |
9 | g.128632381dup | CA2786021639 | SPTAN1 | c.6996-50dup (n.6996-50dup) c.7023-50dup (n.7023-50dup) c.7047-50dup (n.7047-50dup) c.6486-50dup (n.6486-50dup) c.4565-50dup c.2902-50dup c.6960-50dup (n.6960-50dup) n.684-50dup c.6885-50dup (n.6885-50dup) c.6945-50dup (n.6945-50dup) n.914-50dup n.717-50dup c.6900-50dup (n.6900-50dup) c.7059-50dup (n.7059-50dup) c.7044-50dup (n.7044-50dup) c.6999-50dup (n.6999-50dup) c.6981-50dup (n.6981-50dup) c.6978-50dup (n.6978-50dup) c.6963-50dup (n.6963-50dup) c.6936-50dup (n.6936-50dup) c.6921-50dup (n.6921-50dup) c.6942-50dup (n.6942-50dup) c.6918-50dup (n.6918-50dup) | |
9 | g.128632381_128632383dup | CA590941608 | SPTAN1 | c.6996-50_6996-48dup (n.6996-50_6996-48dup) c.7023-50_7023-48dup (n.7023-50_7023-48dup) c.7047-50_7047-48dup (n.7047-50_7047-48dup) c.6486-50_6486-48dup (n.6486-50_6486-48dup) c.4565-50_4565-48dup c.2902-50_2902-48dup c.6960-50_6960-48dup (n.6960-50_6960-48dup) n.684-50_684-48dup c.6885-50_6885-48dup (n.6885-50_6885-48dup) c.6945-50_6945-48dup (n.6945-50_6945-48dup) n.914-50_914-48dup n.717-50_717-48dup c.6900-50_6900-48dup (n.6900-50_6900-48dup) c.7059-50_7059-48dup (n.7059-50_7059-48dup) c.7044-50_7044-48dup (n.7044-50_7044-48dup) c.6999-50_6999-48dup (n.6999-50_6999-48dup) c.6981-50_6981-48dup (n.6981-50_6981-48dup) c.6978-50_6978-48dup (n.6978-50_6978-48dup) c.6963-50_6963-48dup (n.6963-50_6963-48dup) c.6936-50_6936-48dup (n.6936-50_6936-48dup) c.6921-50_6921-48dup (n.6921-50_6921-48dup) c.6942-50_6942-48dup (n.6942-50_6942-48dup) c.6918-50_6918-48dup (n.6918-50_6918-48dup) | dbSNP gnomAD v2 gnomAD v4 |