Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.128632181C>A | CA375097638 | SPTAN1 | c.6853C>A (p.Leu2285Met) c.6880C>A (p.Leu2294Met) c.6904C>A (p.Leu2302Met) c.6343C>A (p.Leu2115Met) c.4422C>A c.2759C>A c.6817C>A (p.Leu2273Met) n.541C>A c.6742C>A (p.Leu2248Met) c.6802C>A (p.Leu2268Met) n.771C>A n.574C>A c.6757C>A (p.Leu2253Met) c.6916C>A (p.Leu2306Met) c.6901C>A (p.Leu2301Met) c.6856C>A (p.Leu2286Met) c.6838C>A (p.Leu2280Met) c.6835C>A (p.Leu2279Met) c.6820C>A (p.Leu2274Met) c.6793C>A (p.Leu2265Met) c.6778C>A (p.Leu2260Met) c.6799C>A (p.Leu2267Met) c.6775C>A (p.Leu2259Met) | |
9 | g.128632181C>G | CA375097639 | SPTAN1 | c.6853C>G (p.Leu2285Val) c.6880C>G (p.Leu2294Val) c.6904C>G (p.Leu2302Val) c.6343C>G (p.Leu2115Val) c.4422C>G c.2759C>G c.6817C>G (p.Leu2273Val) n.541C>G c.6742C>G (p.Leu2248Val) c.6802C>G (p.Leu2268Val) n.771C>G n.574C>G c.6757C>G (p.Leu2253Val) c.6916C>G (p.Leu2306Val) c.6901C>G (p.Leu2301Val) c.6856C>G (p.Leu2286Val) c.6838C>G (p.Leu2280Val) c.6835C>G (p.Leu2279Val) c.6820C>G (p.Leu2274Val) c.6793C>G (p.Leu2265Val) c.6778C>G (p.Leu2260Val) c.6799C>G (p.Leu2267Val) c.6775C>G (p.Leu2259Val) | |
9 | g.128632181C>T | CA467304804 | SPTAN1 | c.6853C>T (p.Leu2285=) c.6880C>T (p.Leu2294=) c.6904C>T (p.Leu2302=) c.6343C>T (p.Leu2115=) c.4422C>T c.2759C>T c.6817C>T (p.Leu2273=) n.541C>T c.6742C>T (p.Leu2248=) c.6802C>T (p.Leu2268=) n.771C>T n.574C>T c.6757C>T (p.Leu2253=) c.6916C>T (p.Leu2306=) c.6901C>T (p.Leu2301=) c.6856C>T (p.Leu2286=) c.6838C>T (p.Leu2280=) c.6835C>T (p.Leu2279=) c.6820C>T (p.Leu2274=) c.6793C>T (p.Leu2265=) c.6778C>T (p.Leu2260=) c.6799C>T (p.Leu2267=) c.6775C>T (p.Leu2259=) | |
9 | g.128632182T>A | CA375097646 | SPTAN1 | c.6854T>A (p.Leu2285Gln) c.6881T>A (p.Leu2294Gln) c.6905T>A (p.Leu2302Gln) c.6344T>A (p.Leu2115Gln) c.4423T>A c.2760T>A c.6818T>A (p.Leu2273Gln) n.542T>A c.6743T>A (p.Leu2248Gln) c.6803T>A (p.Leu2268Gln) n.772T>A n.575T>A c.6758T>A (p.Leu2253Gln) c.6917T>A (p.Leu2306Gln) c.6902T>A (p.Leu2301Gln) c.6857T>A (p.Leu2286Gln) c.6839T>A (p.Leu2280Gln) c.6836T>A (p.Leu2279Gln) c.6821T>A (p.Leu2274Gln) c.6794T>A (p.Leu2265Gln) c.6779T>A (p.Leu2260Gln) c.6800T>A (p.Leu2267Gln) c.6776T>A (p.Leu2259Gln) | |
9 | g.128632182T>C | CA375097643 | SPTAN1 | c.6854T>C (p.Leu2285Pro) c.6881T>C (p.Leu2294Pro) c.6905T>C (p.Leu2302Pro) c.6344T>C (p.Leu2115Pro) c.4423T>C c.2760T>C c.6818T>C (p.Leu2273Pro) n.542T>C c.6743T>C (p.Leu2248Pro) c.6803T>C (p.Leu2268Pro) n.772T>C n.575T>C c.6758T>C (p.Leu2253Pro) c.6917T>C (p.Leu2306Pro) c.6902T>C (p.Leu2301Pro) c.6857T>C (p.Leu2286Pro) c.6839T>C (p.Leu2280Pro) c.6836T>C (p.Leu2279Pro) c.6821T>C (p.Leu2274Pro) c.6794T>C (p.Leu2265Pro) c.6779T>C (p.Leu2260Pro) c.6800T>C (p.Leu2267Pro) c.6776T>C (p.Leu2259Pro) | |
9 | g.128632182T>G | CA375097640 | SPTAN1 | c.6854T>G (p.Leu2285Arg) c.6881T>G (p.Leu2294Arg) c.6905T>G (p.Leu2302Arg) c.6344T>G (p.Leu2115Arg) c.4423T>G c.2760T>G c.6818T>G (p.Leu2273Arg) n.542T>G c.6743T>G (p.Leu2248Arg) c.6803T>G (p.Leu2268Arg) n.772T>G n.575T>G c.6758T>G (p.Leu2253Arg) c.6917T>G (p.Leu2306Arg) c.6902T>G (p.Leu2301Arg) c.6857T>G (p.Leu2286Arg) c.6839T>G (p.Leu2280Arg) c.6836T>G (p.Leu2279Arg) c.6821T>G (p.Leu2274Arg) c.6794T>G (p.Leu2265Arg) c.6779T>G (p.Leu2260Arg) c.6800T>G (p.Leu2267Arg) c.6776T>G (p.Leu2259Arg) | |
9 | g.128632183G>A | CA467304805 | SPTAN1 | c.6855G>A (p.Leu2285=) c.6882G>A (p.Leu2294=) c.6906G>A (p.Leu2302=) c.6345G>A (p.Leu2115=) c.4424G>A c.2761G>A c.6819G>A (p.Leu2273=) n.543G>A c.6744G>A (p.Leu2248=) c.6804G>A (p.Leu2268=) n.773G>A n.576G>A c.6759G>A (p.Leu2253=) c.6918G>A (p.Leu2306=) c.6903G>A (p.Leu2301=) c.6858G>A (p.Leu2286=) c.6840G>A (p.Leu2280=) c.6837G>A (p.Leu2279=) c.6822G>A (p.Leu2274=) c.6795G>A (p.Leu2265=) c.6780G>A (p.Leu2260=) c.6801G>A (p.Leu2267=) c.6777G>A (p.Leu2259=) | |
9 | g.128632183G>C | CA467304806 | SPTAN1 | c.6855G>C (p.Leu2285=) c.6882G>C (p.Leu2294=) c.6906G>C (p.Leu2302=) c.6345G>C (p.Leu2115=) c.4424G>C c.2761G>C c.6819G>C (p.Leu2273=) n.543G>C c.6744G>C (p.Leu2248=) c.6804G>C (p.Leu2268=) n.773G>C n.576G>C c.6759G>C (p.Leu2253=) c.6918G>C (p.Leu2306=) c.6903G>C (p.Leu2301=) c.6858G>C (p.Leu2286=) c.6840G>C (p.Leu2280=) c.6837G>C (p.Leu2279=) c.6822G>C (p.Leu2274=) c.6795G>C (p.Leu2265=) c.6780G>C (p.Leu2260=) c.6801G>C (p.Leu2267=) c.6777G>C (p.Leu2259=) | |
9 | g.128632183G>T | CA467304807 | SPTAN1 | c.6855G>T (p.Leu2285=) c.6882G>T (p.Leu2294=) c.6906G>T (p.Leu2302=) c.6345G>T (p.Leu2115=) c.4424G>T c.2761G>T c.6819G>T (p.Leu2273=) n.543G>T c.6744G>T (p.Leu2248=) c.6804G>T (p.Leu2268=) n.773G>T n.576G>T c.6759G>T (p.Leu2253=) c.6918G>T (p.Leu2306=) c.6903G>T (p.Leu2301=) c.6858G>T (p.Leu2286=) c.6840G>T (p.Leu2280=) c.6837G>T (p.Leu2279=) c.6822G>T (p.Leu2274=) c.6795G>T (p.Leu2265=) c.6780G>T (p.Leu2260=) c.6801G>T (p.Leu2267=) c.6777G>T (p.Leu2259=) | |
9 | g.128632184G>A | CA375097651 | SPTAN1 | c.6856G>A (p.Gly2286Arg) c.6883G>A (p.Gly2295Arg) c.6907G>A (p.Gly2303Arg) c.6346G>A (p.Gly2116Arg) c.4425G>A c.2762G>A c.6820G>A (p.Gly2274Arg) n.544G>A c.6745G>A (p.Gly2249Arg) c.6805G>A (p.Gly2269Arg) n.774G>A n.577G>A c.6760G>A (p.Gly2254Arg) c.6919G>A (p.Gly2307Arg) c.6904G>A (p.Gly2302Arg) c.6859G>A (p.Gly2287Arg) c.6841G>A (p.Gly2281Arg) c.6838G>A (p.Gly2280Arg) c.6823G>A (p.Gly2275Arg) c.6796G>A (p.Gly2266Arg) c.6781G>A (p.Gly2261Arg) c.6802G>A (p.Gly2268Arg) c.6778G>A (p.Gly2260Arg) | |
9 | g.128632184G>C | CA375097652 | SPTAN1 | c.6856G>C (p.Gly2286Arg) c.6883G>C (p.Gly2295Arg) c.6907G>C (p.Gly2303Arg) c.6346G>C (p.Gly2116Arg) c.4425G>C c.2762G>C c.6820G>C (p.Gly2274Arg) n.544G>C c.6745G>C (p.Gly2249Arg) c.6805G>C (p.Gly2269Arg) n.774G>C n.577G>C c.6760G>C (p.Gly2254Arg) c.6919G>C (p.Gly2307Arg) c.6904G>C (p.Gly2302Arg) c.6859G>C (p.Gly2287Arg) c.6841G>C (p.Gly2281Arg) c.6838G>C (p.Gly2280Arg) c.6823G>C (p.Gly2275Arg) c.6796G>C (p.Gly2266Arg) c.6781G>C (p.Gly2261Arg) c.6802G>C (p.Gly2268Arg) c.6778G>C (p.Gly2260Arg) | |
9 | g.128632184G>T | CA375097654 | SPTAN1 | c.6856G>T (p.Gly2286Trp) c.6883G>T (p.Gly2295Trp) c.6907G>T (p.Gly2303Trp) c.6346G>T (p.Gly2116Trp) c.4425G>T c.2762G>T c.6820G>T (p.Gly2274Trp) n.544G>T c.6745G>T (p.Gly2249Trp) c.6805G>T (p.Gly2269Trp) n.774G>T n.577G>T c.6760G>T (p.Gly2254Trp) c.6919G>T (p.Gly2307Trp) c.6904G>T (p.Gly2302Trp) c.6859G>T (p.Gly2287Trp) c.6841G>T (p.Gly2281Trp) c.6838G>T (p.Gly2280Trp) c.6823G>T (p.Gly2275Trp) c.6796G>T (p.Gly2266Trp) c.6781G>T (p.Gly2261Trp) c.6802G>T (p.Gly2268Trp) c.6778G>T (p.Gly2260Trp) | |
9 | g.128632185G>A | CA375097655 | SPTAN1 | c.6857G>A (p.Gly2286Glu) c.6884G>A (p.Gly2295Glu) c.6908G>A (p.Gly2303Glu) c.6347G>A (p.Gly2116Glu) c.4426G>A c.2763G>A c.6821G>A (p.Gly2274Glu) n.545G>A c.6746G>A (p.Gly2249Glu) c.6806G>A (p.Gly2269Glu) n.775G>A n.578G>A c.6761G>A (p.Gly2254Glu) c.6920G>A (p.Gly2307Glu) c.6905G>A (p.Gly2302Glu) c.6860G>A (p.Gly2287Glu) c.6842G>A (p.Gly2281Glu) c.6839G>A (p.Gly2280Glu) c.6824G>A (p.Gly2275Glu) c.6797G>A (p.Gly2266Glu) c.6782G>A (p.Gly2261Glu) c.6803G>A (p.Gly2268Glu) c.6779G>A (p.Gly2260Glu) | |
9 | g.128632185G>C | CA375097658 | SPTAN1 | c.6857G>C (p.Gly2286Ala) c.6884G>C (p.Gly2295Ala) c.6908G>C (p.Gly2303Ala) c.6347G>C (p.Gly2116Ala) c.4426G>C c.2763G>C c.6821G>C (p.Gly2274Ala) n.545G>C c.6746G>C (p.Gly2249Ala) c.6806G>C (p.Gly2269Ala) n.775G>C n.578G>C c.6761G>C (p.Gly2254Ala) c.6920G>C (p.Gly2307Ala) c.6905G>C (p.Gly2302Ala) c.6860G>C (p.Gly2287Ala) c.6842G>C (p.Gly2281Ala) c.6839G>C (p.Gly2280Ala) c.6824G>C (p.Gly2275Ala) c.6797G>C (p.Gly2266Ala) c.6782G>C (p.Gly2261Ala) c.6803G>C (p.Gly2268Ala) c.6779G>C (p.Gly2260Ala) | |
9 | g.128632185G>T | CA375097661 | SPTAN1 | c.6857G>T (p.Gly2286Val) c.6884G>T (p.Gly2295Val) c.6908G>T (p.Gly2303Val) c.6347G>T (p.Gly2116Val) c.4426G>T c.2763G>T c.6821G>T (p.Gly2274Val) n.545G>T c.6746G>T (p.Gly2249Val) c.6806G>T (p.Gly2269Val) n.775G>T n.578G>T c.6761G>T (p.Gly2254Val) c.6920G>T (p.Gly2307Val) c.6905G>T (p.Gly2302Val) c.6860G>T (p.Gly2287Val) c.6842G>T (p.Gly2281Val) c.6839G>T (p.Gly2280Val) c.6824G>T (p.Gly2275Val) c.6797G>T (p.Gly2266Val) c.6782G>T (p.Gly2261Val) c.6803G>T (p.Gly2268Val) c.6779G>T (p.Gly2260Val) | |
9 | g.128632186G>A | CA467304808 | SPTAN1 | c.6858G>A (p.Gly2286=) c.6885G>A (p.Gly2295=) c.6909G>A (p.Gly2303=) c.6348G>A (p.Gly2116=) c.4427G>A c.2764G>A c.6822G>A (p.Gly2274=) n.546G>A c.6747G>A (p.Gly2249=) c.6807G>A (p.Gly2269=) n.776G>A n.579G>A c.6762G>A (p.Gly2254=) c.6921G>A (p.Gly2307=) c.6906G>A (p.Gly2302=) c.6861G>A (p.Gly2287=) c.6843G>A (p.Gly2281=) c.6840G>A (p.Gly2280=) c.6825G>A (p.Gly2275=) c.6798G>A (p.Gly2266=) c.6783G>A (p.Gly2261=) c.6804G>A (p.Gly2268=) c.6780G>A (p.Gly2260=) | gnomAD v4 |
9 | g.128632186G>C | CA467304809 | SPTAN1 | c.6858G>C (p.Gly2286=) c.6885G>C (p.Gly2295=) c.6909G>C (p.Gly2303=) c.6348G>C (p.Gly2116=) c.4427G>C c.2764G>C c.6822G>C (p.Gly2274=) n.546G>C c.6747G>C (p.Gly2249=) c.6807G>C (p.Gly2269=) n.776G>C n.579G>C c.6762G>C (p.Gly2254=) c.6921G>C (p.Gly2307=) c.6906G>C (p.Gly2302=) c.6861G>C (p.Gly2287=) c.6843G>C (p.Gly2281=) c.6840G>C (p.Gly2280=) c.6825G>C (p.Gly2275=) c.6798G>C (p.Gly2266=) c.6783G>C (p.Gly2261=) c.6804G>C (p.Gly2268=) c.6780G>C (p.Gly2260=) | |
9 | g.128632186G>T | CA467304810 | SPTAN1 | c.6858G>T (p.Gly2286=) c.6885G>T (p.Gly2295=) c.6909G>T (p.Gly2303=) c.6348G>T (p.Gly2116=) c.4427G>T c.2764G>T c.6822G>T (p.Gly2274=) n.546G>T c.6747G>T (p.Gly2249=) c.6807G>T (p.Gly2269=) n.776G>T n.579G>T c.6762G>T (p.Gly2254=) c.6921G>T (p.Gly2307=) c.6906G>T (p.Gly2302=) c.6861G>T (p.Gly2287=) c.6843G>T (p.Gly2281=) c.6840G>T (p.Gly2280=) c.6825G>T (p.Gly2275=) c.6798G>T (p.Gly2266=) c.6783G>T (p.Gly2261=) c.6804G>T (p.Gly2268=) c.6780G>T (p.Gly2260=) | |
9 | g.128632187G>A | CA375097668 | SPTAN1 | c.6859G>A (p.Ala2287Thr) c.6886G>A (p.Ala2296Thr) c.6910G>A (p.Ala2304Thr) c.6349G>A (p.Ala2117Thr) c.4428G>A c.2765G>A c.6823G>A (p.Ala2275Thr) n.547G>A c.6748G>A (p.Ala2250Thr) c.6808G>A (p.Ala2270Thr) n.777G>A n.580G>A c.6763G>A (p.Ala2255Thr) c.6922G>A (p.Ala2308Thr) c.6907G>A (p.Ala2303Thr) c.6862G>A (p.Ala2288Thr) c.6844G>A (p.Ala2282Thr) c.6841G>A (p.Ala2281Thr) c.6826G>A (p.Ala2276Thr) c.6799G>A (p.Ala2267Thr) c.6784G>A (p.Ala2262Thr) c.6805G>A (p.Ala2269Thr) c.6781G>A (p.Ala2261Thr) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128632187G>C | CA375097676 | SPTAN1 | c.6859G>C (p.Ala2287Pro) c.6886G>C (p.Ala2296Pro) c.6910G>C (p.Ala2304Pro) c.6349G>C (p.Ala2117Pro) c.4428G>C c.2765G>C c.6823G>C (p.Ala2275Pro) n.547G>C c.6748G>C (p.Ala2250Pro) c.6808G>C (p.Ala2270Pro) n.777G>C n.580G>C c.6763G>C (p.Ala2255Pro) c.6922G>C (p.Ala2308Pro) c.6907G>C (p.Ala2303Pro) c.6862G>C (p.Ala2288Pro) c.6844G>C (p.Ala2282Pro) c.6841G>C (p.Ala2281Pro) c.6826G>C (p.Ala2276Pro) c.6799G>C (p.Ala2267Pro) c.6784G>C (p.Ala2262Pro) c.6805G>C (p.Ala2269Pro) c.6781G>C (p.Ala2261Pro) | |
9 | g.128632187G= | CA1880371237 | SPTAN1 | c.6859G= (p.Ala2287=) c.6886G= (p.Ala2296=) c.6910G= (p.Ala2304=) c.6349G= (p.Ala2117=) c.4428G= c.2765G= c.6823G= (p.Ala2275=) n.547G= c.6748G= (p.Ala2250=) c.6808G= (p.Ala2270=) n.777G= n.580G= c.6763G= (p.Ala2255=) c.6922G= (p.Ala2308=) c.6907G= (p.Ala2303=) c.6862G= (p.Ala2288=) c.6844G= (p.Ala2282=) c.6841G= (p.Ala2281=) c.6826G= (p.Ala2276=) c.6799G= (p.Ala2267=) c.6784G= (p.Ala2262=) c.6805G= (p.Ala2269=) c.6781G= (p.Ala2261=) | |
9 | g.128632187G>T | CA375097678 | SPTAN1 | c.6859G>T (p.Ala2287Ser) c.6886G>T (p.Ala2296Ser) c.6910G>T (p.Ala2304Ser) c.6349G>T (p.Ala2117Ser) c.4428G>T c.2765G>T c.6823G>T (p.Ala2275Ser) n.547G>T c.6748G>T (p.Ala2250Ser) c.6808G>T (p.Ala2270Ser) n.777G>T n.580G>T c.6763G>T (p.Ala2255Ser) c.6922G>T (p.Ala2308Ser) c.6907G>T (p.Ala2303Ser) c.6862G>T (p.Ala2288Ser) c.6844G>T (p.Ala2282Ser) c.6841G>T (p.Ala2281Ser) c.6826G>T (p.Ala2276Ser) c.6799G>T (p.Ala2267Ser) c.6784G>T (p.Ala2262Ser) c.6805G>T (p.Ala2269Ser) c.6781G>T (p.Ala2261Ser) | |
9 | g.128632188C>A | CA375097682 | SPTAN1 | c.6860C>A (p.Ala2287Asp) c.6887C>A (p.Ala2296Asp) c.6911C>A (p.Ala2304Asp) c.6350C>A (p.Ala2117Asp) c.4429C>A c.2766C>A c.6824C>A (p.Ala2275Asp) n.548C>A c.6749C>A (p.Ala2250Asp) c.6809C>A (p.Ala2270Asp) n.778C>A n.581C>A c.6764C>A (p.Ala2255Asp) c.6923C>A (p.Ala2308Asp) c.6908C>A (p.Ala2303Asp) c.6863C>A (p.Ala2288Asp) c.6845C>A (p.Ala2282Asp) c.6842C>A (p.Ala2281Asp) c.6827C>A (p.Ala2276Asp) c.6800C>A (p.Ala2267Asp) c.6785C>A (p.Ala2262Asp) c.6806C>A (p.Ala2269Asp) c.6782C>A (p.Ala2261Asp) | |
9 | g.128632188C>G | CA375097683 | SPTAN1 | c.6860C>G (p.Ala2287Gly) c.6887C>G (p.Ala2296Gly) c.6911C>G (p.Ala2304Gly) c.6350C>G (p.Ala2117Gly) c.4429C>G c.2766C>G c.6824C>G (p.Ala2275Gly) n.548C>G c.6749C>G (p.Ala2250Gly) c.6809C>G (p.Ala2270Gly) n.778C>G n.581C>G c.6764C>G (p.Ala2255Gly) c.6923C>G (p.Ala2308Gly) c.6908C>G (p.Ala2303Gly) c.6863C>G (p.Ala2288Gly) c.6845C>G (p.Ala2282Gly) c.6842C>G (p.Ala2281Gly) c.6827C>G (p.Ala2276Gly) c.6800C>G (p.Ala2267Gly) c.6785C>G (p.Ala2262Gly) c.6806C>G (p.Ala2269Gly) c.6782C>G (p.Ala2261Gly) | |
9 | g.128632188C>T | CA375097686 | SPTAN1 | c.6860C>T (p.Ala2287Val) c.6887C>T (p.Ala2296Val) c.6911C>T (p.Ala2304Val) c.6350C>T (p.Ala2117Val) c.4429C>T c.2766C>T c.6824C>T (p.Ala2275Val) n.548C>T c.6749C>T (p.Ala2250Val) c.6809C>T (p.Ala2270Val) n.778C>T n.581C>T c.6764C>T (p.Ala2255Val) c.6923C>T (p.Ala2308Val) c.6908C>T (p.Ala2303Val) c.6863C>T (p.Ala2288Val) c.6845C>T (p.Ala2282Val) c.6842C>T (p.Ala2281Val) c.6827C>T (p.Ala2276Val) c.6800C>T (p.Ala2267Val) c.6785C>T (p.Ala2262Val) c.6806C>T (p.Ala2269Val) c.6782C>T (p.Ala2261Val) | |
9 | g.128632189C>A | CA467304811 | SPTAN1 | c.6861C>A (p.Ala2287=) c.6888C>A (p.Ala2296=) c.6912C>A (p.Ala2304=) c.6351C>A (p.Ala2117=) c.4430C>A c.2767C>A c.6825C>A (p.Ala2275=) n.549C>A c.6750C>A (p.Ala2250=) c.6810C>A (p.Ala2270=) n.779C>A n.582C>A c.6765C>A (p.Ala2255=) c.6924C>A (p.Ala2308=) c.6909C>A (p.Ala2303=) c.6864C>A (p.Ala2288=) c.6846C>A (p.Ala2282=) c.6843C>A (p.Ala2281=) c.6828C>A (p.Ala2276=) c.6801C>A (p.Ala2267=) c.6786C>A (p.Ala2262=) c.6807C>A (p.Ala2269=) c.6783C>A (p.Ala2261=) | |
9 | g.128632189C= | CA1880371238 | SPTAN1 | c.6861C= (p.Ala2287=) c.6888C= (p.Ala2296=) c.6912C= (p.Ala2304=) c.6351C= (p.Ala2117=) c.4430C= c.2767C= c.6825C= (p.Ala2275=) n.549C= c.6750C= (p.Ala2250=) c.6810C= (p.Ala2270=) n.779C= n.582C= c.6765C= (p.Ala2255=) c.6924C= (p.Ala2308=) c.6909C= (p.Ala2303=) c.6864C= (p.Ala2288=) c.6846C= (p.Ala2282=) c.6843C= (p.Ala2281=) c.6828C= (p.Ala2276=) c.6801C= (p.Ala2267=) c.6786C= (p.Ala2262=) c.6807C= (p.Ala2269=) c.6783C= (p.Ala2261=) | |
9 | g.128632189C>G | CA467304812 | SPTAN1 | c.6861C>G (p.Ala2287=) c.6888C>G (p.Ala2296=) c.6912C>G (p.Ala2304=) c.6351C>G (p.Ala2117=) c.4430C>G c.2767C>G c.6825C>G (p.Ala2275=) n.549C>G c.6750C>G (p.Ala2250=) c.6810C>G (p.Ala2270=) n.779C>G n.582C>G c.6765C>G (p.Ala2255=) c.6924C>G (p.Ala2308=) c.6909C>G (p.Ala2303=) c.6864C>G (p.Ala2288=) c.6846C>G (p.Ala2282=) c.6843C>G (p.Ala2281=) c.6828C>G (p.Ala2276=) c.6801C>G (p.Ala2267=) c.6786C>G (p.Ala2262=) c.6807C>G (p.Ala2269=) c.6783C>G (p.Ala2261=) | |
9 | g.128632189C>T | CA5265918 | SPTAN1 | c.6861C>T (p.Ala2287=) c.6888C>T (p.Ala2296=) c.6912C>T (p.Ala2304=) c.6351C>T (p.Ala2117=) c.4430C>T c.2767C>T c.6825C>T (p.Ala2275=) n.549C>T c.6750C>T (p.Ala2250=) c.6810C>T (p.Ala2270=) n.779C>T n.582C>T c.6765C>T (p.Ala2255=) c.6924C>T (p.Ala2308=) c.6909C>T (p.Ala2303=) c.6864C>T (p.Ala2288=) c.6846C>T (p.Ala2282=) c.6843C>T (p.Ala2281=) c.6828C>T (p.Ala2276=) c.6801C>T (p.Ala2267=) c.6786C>T (p.Ala2262=) c.6807C>T (p.Ala2269=) c.6783C>T (p.Ala2261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632190G>A | CA5265919 | SPTAN1 | c.6862G>A (p.Ala2288Thr) c.6889G>A (p.Ala2297Thr) c.6913G>A (p.Ala2305Thr) c.6352G>A (p.Ala2118Thr) c.4431G>A c.2768G>A c.6826G>A (p.Ala2276Thr) n.550G>A c.6751G>A (p.Ala2251Thr) c.6811G>A (p.Ala2271Thr) n.780G>A n.583G>A c.6766G>A (p.Ala2256Thr) c.6925G>A (p.Ala2309Thr) c.6910G>A (p.Ala2304Thr) c.6865G>A (p.Ala2289Thr) c.6847G>A (p.Ala2283Thr) c.6844G>A (p.Ala2282Thr) c.6829G>A (p.Ala2277Thr) c.6802G>A (p.Ala2268Thr) c.6787G>A (p.Ala2263Thr) c.6808G>A (p.Ala2270Thr) c.6784G>A (p.Ala2262Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632190G>C | CA375097716 | SPTAN1 | c.6862G>C (p.Ala2288Pro) c.6889G>C (p.Ala2297Pro) c.6913G>C (p.Ala2305Pro) c.6352G>C (p.Ala2118Pro) c.4431G>C c.2768G>C c.6826G>C (p.Ala2276Pro) n.550G>C c.6751G>C (p.Ala2251Pro) c.6811G>C (p.Ala2271Pro) n.780G>C n.583G>C c.6766G>C (p.Ala2256Pro) c.6925G>C (p.Ala2309Pro) c.6910G>C (p.Ala2304Pro) c.6865G>C (p.Ala2289Pro) c.6847G>C (p.Ala2283Pro) c.6844G>C (p.Ala2282Pro) c.6829G>C (p.Ala2277Pro) c.6802G>C (p.Ala2268Pro) c.6787G>C (p.Ala2263Pro) c.6808G>C (p.Ala2270Pro) c.6784G>C (p.Ala2262Pro) | |
9 | g.128632190G= | CA1880371239 | SPTAN1 | c.6862G= (p.Ala2288=) c.6889G= (p.Ala2297=) c.6913G= (p.Ala2305=) c.6352G= (p.Ala2118=) c.4431G= c.2768G= c.6826G= (p.Ala2276=) n.550G= c.6751G= (p.Ala2251=) c.6811G= (p.Ala2271=) n.780G= n.583G= c.6766G= (p.Ala2256=) c.6925G= (p.Ala2309=) c.6910G= (p.Ala2304=) c.6865G= (p.Ala2289=) c.6847G= (p.Ala2283=) c.6844G= (p.Ala2282=) c.6829G= (p.Ala2277=) c.6802G= (p.Ala2268=) c.6787G= (p.Ala2263=) c.6808G= (p.Ala2270=) c.6784G= (p.Ala2262=) | |
9 | g.128632190G>T | CA5265920 | SPTAN1 | c.6862G>T (p.Ala2288Ser) c.6889G>T (p.Ala2297Ser) c.6913G>T (p.Ala2305Ser) c.6352G>T (p.Ala2118Ser) c.4431G>T c.2768G>T c.6826G>T (p.Ala2276Ser) n.550G>T c.6751G>T (p.Ala2251Ser) c.6811G>T (p.Ala2271Ser) n.780G>T n.583G>T c.6766G>T (p.Ala2256Ser) c.6925G>T (p.Ala2309Ser) c.6910G>T (p.Ala2304Ser) c.6865G>T (p.Ala2289Ser) c.6847G>T (p.Ala2283Ser) c.6844G>T (p.Ala2282Ser) c.6829G>T (p.Ala2277Ser) c.6802G>T (p.Ala2268Ser) c.6787G>T (p.Ala2263Ser) c.6808G>T (p.Ala2270Ser) c.6784G>T (p.Ala2262Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632191C>A | CA375097723 | SPTAN1 | c.6863C>A (p.Ala2288Asp) c.6890C>A (p.Ala2297Asp) c.6914C>A (p.Ala2305Asp) c.6353C>A (p.Ala2118Asp) c.4432C>A c.2769C>A c.6827C>A (p.Ala2276Asp) n.551C>A c.6752C>A (p.Ala2251Asp) c.6812C>A (p.Ala2271Asp) n.781C>A n.584C>A c.6767C>A (p.Ala2256Asp) c.6926C>A (p.Ala2309Asp) c.6911C>A (p.Ala2304Asp) c.6866C>A (p.Ala2289Asp) c.6848C>A (p.Ala2283Asp) c.6845C>A (p.Ala2282Asp) c.6830C>A (p.Ala2277Asp) c.6803C>A (p.Ala2268Asp) c.6788C>A (p.Ala2263Asp) c.6809C>A (p.Ala2270Asp) c.6785C>A (p.Ala2262Asp) | |
9 | g.128632191C>G | CA375097724 | SPTAN1 | c.6863C>G (p.Ala2288Gly) c.6890C>G (p.Ala2297Gly) c.6914C>G (p.Ala2305Gly) c.6353C>G (p.Ala2118Gly) c.4432C>G c.2769C>G c.6827C>G (p.Ala2276Gly) n.551C>G c.6752C>G (p.Ala2251Gly) c.6812C>G (p.Ala2271Gly) n.781C>G n.584C>G c.6767C>G (p.Ala2256Gly) c.6926C>G (p.Ala2309Gly) c.6911C>G (p.Ala2304Gly) c.6866C>G (p.Ala2289Gly) c.6848C>G (p.Ala2283Gly) c.6845C>G (p.Ala2282Gly) c.6830C>G (p.Ala2277Gly) c.6803C>G (p.Ala2268Gly) c.6788C>G (p.Ala2263Gly) c.6809C>G (p.Ala2270Gly) c.6785C>G (p.Ala2262Gly) | |
9 | g.128632191C>T | CA375097727 | SPTAN1 | c.6863C>T (p.Ala2288Val) c.6890C>T (p.Ala2297Val) c.6914C>T (p.Ala2305Val) c.6353C>T (p.Ala2118Val) c.4432C>T c.2769C>T c.6827C>T (p.Ala2276Val) n.551C>T c.6752C>T (p.Ala2251Val) c.6812C>T (p.Ala2271Val) n.781C>T n.584C>T c.6767C>T (p.Ala2256Val) c.6926C>T (p.Ala2309Val) c.6911C>T (p.Ala2304Val) c.6866C>T (p.Ala2289Val) c.6848C>T (p.Ala2283Val) c.6845C>T (p.Ala2282Val) c.6830C>T (p.Ala2277Val) c.6803C>T (p.Ala2268Val) c.6788C>T (p.Ala2263Val) c.6809C>T (p.Ala2270Val) c.6785C>T (p.Ala2262Val) | |
9 | g.128632192C>A | CA467304813 | SPTAN1 | c.6864C>A (p.Ala2288=) c.6891C>A (p.Ala2297=) c.6915C>A (p.Ala2305=) c.6354C>A (p.Ala2118=) c.4433C>A c.2770C>A c.6828C>A (p.Ala2276=) n.552C>A c.6753C>A (p.Ala2251=) c.6813C>A (p.Ala2271=) n.782C>A n.585C>A c.6768C>A (p.Ala2256=) c.6927C>A (p.Ala2309=) c.6912C>A (p.Ala2304=) c.6867C>A (p.Ala2289=) c.6849C>A (p.Ala2283=) c.6846C>A (p.Ala2282=) c.6831C>A (p.Ala2277=) c.6804C>A (p.Ala2268=) c.6789C>A (p.Ala2263=) c.6810C>A (p.Ala2270=) c.6786C>A (p.Ala2262=) | |
9 | g.128632192C= | CA1880371240 | SPTAN1 | c.6864C= (p.Ala2288=) c.6891C= (p.Ala2297=) c.6915C= (p.Ala2305=) c.6354C= (p.Ala2118=) c.4433C= c.2770C= c.6828C= (p.Ala2276=) n.552C= c.6753C= (p.Ala2251=) c.6813C= (p.Ala2271=) n.782C= n.585C= c.6768C= (p.Ala2256=) c.6927C= (p.Ala2309=) c.6912C= (p.Ala2304=) c.6867C= (p.Ala2289=) c.6849C= (p.Ala2283=) c.6846C= (p.Ala2282=) c.6831C= (p.Ala2277=) c.6804C= (p.Ala2268=) c.6789C= (p.Ala2263=) c.6810C= (p.Ala2270=) c.6786C= (p.Ala2262=) | |
9 | g.128632192C>G | CA467304814 | SPTAN1 | c.6864C>G (p.Ala2288=) c.6891C>G (p.Ala2297=) c.6915C>G (p.Ala2305=) c.6354C>G (p.Ala2118=) c.4433C>G c.2770C>G c.6828C>G (p.Ala2276=) n.552C>G c.6753C>G (p.Ala2251=) c.6813C>G (p.Ala2271=) n.782C>G n.585C>G c.6768C>G (p.Ala2256=) c.6927C>G (p.Ala2309=) c.6912C>G (p.Ala2304=) c.6867C>G (p.Ala2289=) c.6849C>G (p.Ala2283=) c.6846C>G (p.Ala2282=) c.6831C>G (p.Ala2277=) c.6804C>G (p.Ala2268=) c.6789C>G (p.Ala2263=) c.6810C>G (p.Ala2270=) c.6786C>G (p.Ala2262=) | |
9 | g.128632192C>T | CA467304815 | SPTAN1 | c.6864C>T (p.Ala2288=) c.6891C>T (p.Ala2297=) c.6915C>T (p.Ala2305=) c.6354C>T (p.Ala2118=) c.4433C>T c.2770C>T c.6828C>T (p.Ala2276=) n.552C>T c.6753C>T (p.Ala2251=) c.6813C>T (p.Ala2271=) n.782C>T n.585C>T c.6768C>T (p.Ala2256=) c.6927C>T (p.Ala2309=) c.6912C>T (p.Ala2304=) c.6867C>T (p.Ala2289=) c.6849C>T (p.Ala2283=) c.6846C>T (p.Ala2282=) c.6831C>T (p.Ala2277=) c.6804C>T (p.Ala2268=) c.6789C>T (p.Ala2263=) c.6810C>T (p.Ala2270=) c.6786C>T (p.Ala2262=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128632193A>C | CA375097731 | SPTAN1 | c.6865A>C (p.Met2289Leu) c.6892A>C (p.Met2298Leu) c.6916A>C (p.Met2306Leu) c.6355A>C (p.Met2119Leu) c.4434A>C c.2771A>C c.6829A>C (p.Met2277Leu) n.553A>C c.6754A>C (p.Met2252Leu) c.6814A>C (p.Met2272Leu) n.783A>C n.586A>C c.6769A>C (p.Met2257Leu) c.6928A>C (p.Met2310Leu) c.6913A>C (p.Met2305Leu) c.6868A>C (p.Met2290Leu) c.6850A>C (p.Met2284Leu) c.6847A>C (p.Met2283Leu) c.6832A>C (p.Met2278Leu) c.6805A>C (p.Met2269Leu) c.6790A>C (p.Met2264Leu) c.6811A>C (p.Met2271Leu) c.6787A>C (p.Met2263Leu) | |
9 | g.128632193A>G | CA375097734 | SPTAN1 | c.6865A>G (p.Met2289Val) c.6892A>G (p.Met2298Val) c.6916A>G (p.Met2306Val) c.6355A>G (p.Met2119Val) c.4434A>G c.2771A>G c.6829A>G (p.Met2277Val) n.553A>G c.6754A>G (p.Met2252Val) c.6814A>G (p.Met2272Val) n.783A>G n.586A>G c.6769A>G (p.Met2257Val) c.6928A>G (p.Met2310Val) c.6913A>G (p.Met2305Val) c.6868A>G (p.Met2290Val) c.6850A>G (p.Met2284Val) c.6847A>G (p.Met2283Val) c.6832A>G (p.Met2278Val) c.6805A>G (p.Met2269Val) c.6790A>G (p.Met2264Val) c.6811A>G (p.Met2271Val) c.6787A>G (p.Met2263Val) | |
9 | g.128632193A>T | CA375097735 | SPTAN1 | c.6865A>T (p.Met2289Leu) c.6892A>T (p.Met2298Leu) c.6916A>T (p.Met2306Leu) c.6355A>T (p.Met2119Leu) c.4434A>T c.2771A>T c.6829A>T (p.Met2277Leu) n.553A>T c.6754A>T (p.Met2252Leu) c.6814A>T (p.Met2272Leu) n.783A>T n.586A>T c.6769A>T (p.Met2257Leu) c.6928A>T (p.Met2310Leu) c.6913A>T (p.Met2305Leu) c.6868A>T (p.Met2290Leu) c.6850A>T (p.Met2284Leu) c.6847A>T (p.Met2283Leu) c.6832A>T (p.Met2278Leu) c.6805A>T (p.Met2269Leu) c.6790A>T (p.Met2264Leu) c.6811A>T (p.Met2271Leu) c.6787A>T (p.Met2263Leu) | |
9 | g.128632194T>A | CA375097736 | SPTAN1 | c.6866T>A (p.Met2289Lys) c.6893T>A (p.Met2298Lys) c.6917T>A (p.Met2306Lys) c.6356T>A (p.Met2119Lys) c.4435T>A c.2772T>A c.6830T>A (p.Met2277Lys) n.554T>A c.6755T>A (p.Met2252Lys) c.6815T>A (p.Met2272Lys) n.784T>A n.587T>A c.6770T>A (p.Met2257Lys) c.6929T>A (p.Met2310Lys) c.6914T>A (p.Met2305Lys) c.6869T>A (p.Met2290Lys) c.6851T>A (p.Met2284Lys) c.6848T>A (p.Met2283Lys) c.6833T>A (p.Met2278Lys) c.6806T>A (p.Met2269Lys) c.6791T>A (p.Met2264Lys) c.6812T>A (p.Met2271Lys) c.6788T>A (p.Met2263Lys) | |
9 | g.128632194T>C | CA375097737 | SPTAN1 | c.6866T>C (p.Met2289Thr) c.6893T>C (p.Met2298Thr) c.6917T>C (p.Met2306Thr) c.6356T>C (p.Met2119Thr) c.4435T>C c.2772T>C c.6830T>C (p.Met2277Thr) n.554T>C c.6755T>C (p.Met2252Thr) c.6815T>C (p.Met2272Thr) n.784T>C n.587T>C c.6770T>C (p.Met2257Thr) c.6929T>C (p.Met2310Thr) c.6914T>C (p.Met2305Thr) c.6869T>C (p.Met2290Thr) c.6851T>C (p.Met2284Thr) c.6848T>C (p.Met2283Thr) c.6833T>C (p.Met2278Thr) c.6806T>C (p.Met2269Thr) c.6791T>C (p.Met2264Thr) c.6812T>C (p.Met2271Thr) c.6788T>C (p.Met2263Thr) | |
9 | g.128632194T>G | CA375097740 | SPTAN1 | c.6866T>G (p.Met2289Arg) c.6893T>G (p.Met2298Arg) c.6917T>G (p.Met2306Arg) c.6356T>G (p.Met2119Arg) c.4435T>G c.2772T>G c.6830T>G (p.Met2277Arg) n.554T>G c.6755T>G (p.Met2252Arg) c.6815T>G (p.Met2272Arg) n.784T>G n.587T>G c.6770T>G (p.Met2257Arg) c.6929T>G (p.Met2310Arg) c.6914T>G (p.Met2305Arg) c.6869T>G (p.Met2290Arg) c.6851T>G (p.Met2284Arg) c.6848T>G (p.Met2283Arg) c.6833T>G (p.Met2278Arg) c.6806T>G (p.Met2269Arg) c.6791T>G (p.Met2264Arg) c.6812T>G (p.Met2271Arg) c.6788T>G (p.Met2263Arg) | |
9 | g.128632195G>A | CA375097743 | SPTAN1 | c.6867G>A (p.Met2289Ile) c.6894G>A (p.Met2298Ile) c.6918G>A (p.Met2306Ile) c.6357G>A (p.Met2119Ile) c.4436G>A c.2773G>A c.6831G>A (p.Met2277Ile) n.555G>A c.6756G>A (p.Met2252Ile) c.6816G>A (p.Met2272Ile) n.785G>A n.588G>A c.6771G>A (p.Met2257Ile) c.6930G>A (p.Met2310Ile) c.6915G>A (p.Met2305Ile) c.6870G>A (p.Met2290Ile) c.6852G>A (p.Met2284Ile) c.6849G>A (p.Met2283Ile) c.6834G>A (p.Met2278Ile) c.6807G>A (p.Met2269Ile) c.6792G>A (p.Met2264Ile) c.6813G>A (p.Met2271Ile) c.6789G>A (p.Met2263Ile) | |
9 | g.128632195G>C | CA375097747 | SPTAN1 | c.6867G>C (p.Met2289Ile) c.6894G>C (p.Met2298Ile) c.6918G>C (p.Met2306Ile) c.6357G>C (p.Met2119Ile) c.4436G>C c.2773G>C c.6831G>C (p.Met2277Ile) n.555G>C c.6756G>C (p.Met2252Ile) c.6816G>C (p.Met2272Ile) n.785G>C n.588G>C c.6771G>C (p.Met2257Ile) c.6930G>C (p.Met2310Ile) c.6915G>C (p.Met2305Ile) c.6870G>C (p.Met2290Ile) c.6852G>C (p.Met2284Ile) c.6849G>C (p.Met2283Ile) c.6834G>C (p.Met2278Ile) c.6807G>C (p.Met2269Ile) c.6792G>C (p.Met2264Ile) c.6813G>C (p.Met2271Ile) c.6789G>C (p.Met2263Ile) | |
9 | g.128632195G>T | CA375097749 | SPTAN1 | c.6867G>T (p.Met2289Ile) c.6894G>T (p.Met2298Ile) c.6918G>T (p.Met2306Ile) c.6357G>T (p.Met2119Ile) c.4436G>T c.2773G>T c.6831G>T (p.Met2277Ile) n.555G>T c.6756G>T (p.Met2252Ile) c.6816G>T (p.Met2272Ile) n.785G>T n.588G>T c.6771G>T (p.Met2257Ile) c.6930G>T (p.Met2310Ile) c.6915G>T (p.Met2305Ile) c.6870G>T (p.Met2290Ile) c.6852G>T (p.Met2284Ile) c.6849G>T (p.Met2283Ile) c.6834G>T (p.Met2278Ile) c.6807G>T (p.Met2269Ile) c.6792G>T (p.Met2264Ile) c.6813G>T (p.Met2271Ile) c.6789G>T (p.Met2263Ile) | |
9 | g.128632200_128632202del | CA2786021637 | SPTAN1 | c.6872_6874del (p.Glu2291del) c.6899_6901del (p.Glu2300del) c.6923_6925del (p.Glu2308del) c.6362_6364del (p.Glu2121del) c.4441_4443del c.2778_2780del c.6836_6838del (p.Glu2279del) n.560_562del c.6761_6763del (p.Glu2254del) c.6821_6823del (p.Glu2274del) n.790_792del n.593_595del c.6776_6778del (p.Glu2259del) c.6935_6937del (p.Glu2312del) c.6920_6922del (p.Glu2307del) c.6875_6877del (p.Glu2292del) c.6857_6859del (p.Glu2286del) c.6854_6856del (p.Glu2285del) c.6839_6841del (p.Glu2280del) c.6812_6814del (p.Glu2271del) c.6797_6799del (p.Glu2266del) c.6818_6820del (p.Glu2273del) c.6794_6796del (p.Glu2265del) | |
9 | g.128632196G>A | CA375097757 | SPTAN1 | c.6868G>A (p.Glu2290Lys) c.6895G>A (p.Glu2299Lys) c.6919G>A (p.Glu2307Lys) c.6358G>A (p.Glu2120Lys) c.4437G>A c.2774G>A c.6832G>A (p.Glu2278Lys) n.556G>A c.6757G>A (p.Glu2253Lys) c.6817G>A (p.Glu2273Lys) n.786G>A n.589G>A c.6772G>A (p.Glu2258Lys) c.6931G>A (p.Glu2311Lys) c.6916G>A (p.Glu2306Lys) c.6871G>A (p.Glu2291Lys) c.6853G>A (p.Glu2285Lys) c.6850G>A (p.Glu2284Lys) c.6835G>A (p.Glu2279Lys) c.6808G>A (p.Glu2270Lys) c.6793G>A (p.Glu2265Lys) c.6814G>A (p.Glu2272Lys) c.6790G>A (p.Glu2264Lys) | |
9 | g.128632196G>C | CA375097761 | SPTAN1 | c.6868G>C (p.Glu2290Gln) c.6895G>C (p.Glu2299Gln) c.6919G>C (p.Glu2307Gln) c.6358G>C (p.Glu2120Gln) c.4437G>C c.2774G>C c.6832G>C (p.Glu2278Gln) n.556G>C c.6757G>C (p.Glu2253Gln) c.6817G>C (p.Glu2273Gln) n.786G>C n.589G>C c.6772G>C (p.Glu2258Gln) c.6931G>C (p.Glu2311Gln) c.6916G>C (p.Glu2306Gln) c.6871G>C (p.Glu2291Gln) c.6853G>C (p.Glu2285Gln) c.6850G>C (p.Glu2284Gln) c.6835G>C (p.Glu2279Gln) c.6808G>C (p.Glu2270Gln) c.6793G>C (p.Glu2265Gln) c.6814G>C (p.Glu2272Gln) c.6790G>C (p.Glu2264Gln) | |
9 | g.128632196G>T | CA375097753 | SPTAN1 | c.6868G>T (p.Glu2290Ter) c.6895G>T (p.Glu2299Ter) c.6919G>T (p.Glu2307Ter) c.6358G>T (p.Glu2120Ter) c.4437G>T c.2774G>T c.6832G>T (p.Glu2278Ter) n.556G>T c.6757G>T (p.Glu2253Ter) c.6817G>T (p.Glu2273Ter) n.786G>T n.589G>T c.6772G>T (p.Glu2258Ter) c.6931G>T (p.Glu2311Ter) c.6916G>T (p.Glu2306Ter) c.6871G>T (p.Glu2291Ter) c.6853G>T (p.Glu2285Ter) c.6850G>T (p.Glu2284Ter) c.6835G>T (p.Glu2279Ter) c.6808G>T (p.Glu2270Ter) c.6793G>T (p.Glu2265Ter) c.6814G>T (p.Glu2272Ter) c.6790G>T (p.Glu2264Ter) | |
9 | g.128632197A>C | CA375097774 | SPTAN1 | c.6869A>C (p.Glu2290Ala) c.6896A>C (p.Glu2299Ala) c.6920A>C (p.Glu2307Ala) c.6359A>C (p.Glu2120Ala) c.4438A>C c.2775A>C c.6833A>C (p.Glu2278Ala) n.557A>C c.6758A>C (p.Glu2253Ala) c.6818A>C (p.Glu2273Ala) n.787A>C n.590A>C c.6773A>C (p.Glu2258Ala) c.6932A>C (p.Glu2311Ala) c.6917A>C (p.Glu2306Ala) c.6872A>C (p.Glu2291Ala) c.6854A>C (p.Glu2285Ala) c.6851A>C (p.Glu2284Ala) c.6836A>C (p.Glu2279Ala) c.6809A>C (p.Glu2270Ala) c.6794A>C (p.Glu2265Ala) c.6815A>C (p.Glu2272Ala) c.6791A>C (p.Glu2264Ala) | |
9 | g.128632197A>G | CA375097768 | SPTAN1 | c.6869A>G (p.Glu2290Gly) c.6896A>G (p.Glu2299Gly) c.6920A>G (p.Glu2307Gly) c.6359A>G (p.Glu2120Gly) c.4438A>G c.2775A>G c.6833A>G (p.Glu2278Gly) n.557A>G c.6758A>G (p.Glu2253Gly) c.6818A>G (p.Glu2273Gly) n.787A>G n.590A>G c.6773A>G (p.Glu2258Gly) c.6932A>G (p.Glu2311Gly) c.6917A>G (p.Glu2306Gly) c.6872A>G (p.Glu2291Gly) c.6854A>G (p.Glu2285Gly) c.6851A>G (p.Glu2284Gly) c.6836A>G (p.Glu2279Gly) c.6809A>G (p.Glu2270Gly) c.6794A>G (p.Glu2265Gly) c.6815A>G (p.Glu2272Gly) c.6791A>G (p.Glu2264Gly) | |
9 | g.128632197A>T | CA375097777 | SPTAN1 | c.6869A>T (p.Glu2290Val) c.6896A>T (p.Glu2299Val) c.6920A>T (p.Glu2307Val) c.6359A>T (p.Glu2120Val) c.4438A>T c.2775A>T c.6833A>T (p.Glu2278Val) n.557A>T c.6758A>T (p.Glu2253Val) c.6818A>T (p.Glu2273Val) n.787A>T n.590A>T c.6773A>T (p.Glu2258Val) c.6932A>T (p.Glu2311Val) c.6917A>T (p.Glu2306Val) c.6872A>T (p.Glu2291Val) c.6854A>T (p.Glu2285Val) c.6851A>T (p.Glu2284Val) c.6836A>T (p.Glu2279Val) c.6809A>T (p.Glu2270Val) c.6794A>T (p.Glu2265Val) c.6815A>T (p.Glu2272Val) c.6791A>T (p.Glu2264Val) | |
9 | g.128632198G>A | CA467304816 | SPTAN1 | c.6870G>A (p.Glu2290=) c.6897G>A (p.Glu2299=) c.6921G>A (p.Glu2307=) c.6360G>A (p.Glu2120=) c.4439G>A c.2776G>A c.6834G>A (p.Glu2278=) n.558G>A c.6759G>A (p.Glu2253=) c.6819G>A (p.Glu2273=) n.788G>A n.591G>A c.6774G>A (p.Glu2258=) c.6933G>A (p.Glu2311=) c.6918G>A (p.Glu2306=) c.6873G>A (p.Glu2291=) c.6855G>A (p.Glu2285=) c.6852G>A (p.Glu2284=) c.6837G>A (p.Glu2279=) c.6810G>A (p.Glu2270=) c.6795G>A (p.Glu2265=) c.6816G>A (p.Glu2272=) c.6792G>A (p.Glu2264=) | gnomAD v4 |
9 | g.128632198G>C | CA375097783 | SPTAN1 | c.6870G>C (p.Glu2290Asp) c.6897G>C (p.Glu2299Asp) c.6921G>C (p.Glu2307Asp) c.6360G>C (p.Glu2120Asp) c.4439G>C c.2776G>C c.6834G>C (p.Glu2278Asp) n.558G>C c.6759G>C (p.Glu2253Asp) c.6819G>C (p.Glu2273Asp) n.788G>C n.591G>C c.6774G>C (p.Glu2258Asp) c.6933G>C (p.Glu2311Asp) c.6918G>C (p.Glu2306Asp) c.6873G>C (p.Glu2291Asp) c.6855G>C (p.Glu2285Asp) c.6852G>C (p.Glu2284Asp) c.6837G>C (p.Glu2279Asp) c.6810G>C (p.Glu2270Asp) c.6795G>C (p.Glu2265Asp) c.6816G>C (p.Glu2272Asp) c.6792G>C (p.Glu2264Asp) | |
9 | g.128632198G>T | CA375097785 | SPTAN1 | c.6870G>T (p.Glu2290Asp) c.6897G>T (p.Glu2299Asp) c.6921G>T (p.Glu2307Asp) c.6360G>T (p.Glu2120Asp) c.4439G>T c.2776G>T c.6834G>T (p.Glu2278Asp) n.558G>T c.6759G>T (p.Glu2253Asp) c.6819G>T (p.Glu2273Asp) n.788G>T n.591G>T c.6774G>T (p.Glu2258Asp) c.6933G>T (p.Glu2311Asp) c.6918G>T (p.Glu2306Asp) c.6873G>T (p.Glu2291Asp) c.6855G>T (p.Glu2285Asp) c.6852G>T (p.Glu2284Asp) c.6837G>T (p.Glu2279Asp) c.6810G>T (p.Glu2270Asp) c.6795G>T (p.Glu2265Asp) c.6816G>T (p.Glu2272Asp) c.6792G>T (p.Glu2264Asp) | |
9 | g.128632199G>A | CA375097788 | SPTAN1 | c.6871G>A (p.Glu2291Lys) c.6898G>A (p.Glu2300Lys) c.6922G>A (p.Glu2308Lys) c.6361G>A (p.Glu2121Lys) c.4440G>A c.2777G>A c.6835G>A (p.Glu2279Lys) n.559G>A c.6760G>A (p.Glu2254Lys) c.6820G>A (p.Glu2274Lys) n.789G>A n.592G>A c.6775G>A (p.Glu2259Lys) c.6934G>A (p.Glu2312Lys) c.6919G>A (p.Glu2307Lys) c.6874G>A (p.Glu2292Lys) c.6856G>A (p.Glu2286Lys) c.6853G>A (p.Glu2285Lys) c.6838G>A (p.Glu2280Lys) c.6811G>A (p.Glu2271Lys) c.6796G>A (p.Glu2266Lys) c.6817G>A (p.Glu2273Lys) c.6793G>A (p.Glu2265Lys) | |
9 | g.128632199G>C | CA375097790 | SPTAN1 | c.6871G>C (p.Glu2291Gln) c.6898G>C (p.Glu2300Gln) c.6922G>C (p.Glu2308Gln) c.6361G>C (p.Glu2121Gln) c.4440G>C c.2777G>C c.6835G>C (p.Glu2279Gln) n.559G>C c.6760G>C (p.Glu2254Gln) c.6820G>C (p.Glu2274Gln) n.789G>C n.592G>C c.6775G>C (p.Glu2259Gln) c.6934G>C (p.Glu2312Gln) c.6919G>C (p.Glu2307Gln) c.6874G>C (p.Glu2292Gln) c.6856G>C (p.Glu2286Gln) c.6853G>C (p.Glu2285Gln) c.6838G>C (p.Glu2280Gln) c.6811G>C (p.Glu2271Gln) c.6796G>C (p.Glu2266Gln) c.6817G>C (p.Glu2273Gln) c.6793G>C (p.Glu2265Gln) | |
9 | g.128632199G>T | CA375097793 | SPTAN1 | c.6871G>T (p.Glu2291Ter) c.6898G>T (p.Glu2300Ter) c.6922G>T (p.Glu2308Ter) c.6361G>T (p.Glu2121Ter) c.4440G>T c.2777G>T c.6835G>T (p.Glu2279Ter) n.559G>T c.6760G>T (p.Glu2254Ter) c.6820G>T (p.Glu2274Ter) n.789G>T n.592G>T c.6775G>T (p.Glu2259Ter) c.6934G>T (p.Glu2312Ter) c.6919G>T (p.Glu2307Ter) c.6874G>T (p.Glu2292Ter) c.6856G>T (p.Glu2286Ter) c.6853G>T (p.Glu2285Ter) c.6838G>T (p.Glu2280Ter) c.6811G>T (p.Glu2271Ter) c.6796G>T (p.Glu2266Ter) c.6817G>T (p.Glu2273Ter) c.6793G>T (p.Glu2265Ter) | |
9 | g.128632200A= | CA1880371241 | SPTAN1 | c.6872A= (p.Glu2291=) c.6899A= (p.Glu2300=) c.6923A= (p.Glu2308=) c.6362A= (p.Glu2121=) c.4441A= c.2778A= c.6836A= (p.Glu2279=) n.560A= c.6761A= (p.Glu2254=) c.6821A= (p.Glu2274=) n.790A= n.593A= c.6776A= (p.Glu2259=) c.6935A= (p.Glu2312=) c.6920A= (p.Glu2307=) c.6875A= (p.Glu2292=) c.6857A= (p.Glu2286=) c.6854A= (p.Glu2285=) c.6839A= (p.Glu2280=) c.6812A= (p.Glu2271=) c.6797A= (p.Glu2266=) c.6818A= (p.Glu2273=) c.6794A= (p.Glu2265=) | |
9 | g.128632200A>C | CA5265921 | SPTAN1 | c.6872A>C (p.Glu2291Ala) c.6899A>C (p.Glu2300Ala) c.6923A>C (p.Glu2308Ala) c.6362A>C (p.Glu2121Ala) c.4441A>C c.2778A>C c.6836A>C (p.Glu2279Ala) n.560A>C c.6761A>C (p.Glu2254Ala) c.6821A>C (p.Glu2274Ala) n.790A>C n.593A>C c.6776A>C (p.Glu2259Ala) c.6935A>C (p.Glu2312Ala) c.6920A>C (p.Glu2307Ala) c.6875A>C (p.Glu2292Ala) c.6857A>C (p.Glu2286Ala) c.6854A>C (p.Glu2285Ala) c.6839A>C (p.Glu2280Ala) c.6812A>C (p.Glu2271Ala) c.6797A>C (p.Glu2266Ala) c.6818A>C (p.Glu2273Ala) c.6794A>C (p.Glu2265Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632200A>G | CA375097804 | SPTAN1 | c.6872A>G (p.Glu2291Gly) c.6899A>G (p.Glu2300Gly) c.6923A>G (p.Glu2308Gly) c.6362A>G (p.Glu2121Gly) c.4441A>G c.2778A>G c.6836A>G (p.Glu2279Gly) n.560A>G c.6761A>G (p.Glu2254Gly) c.6821A>G (p.Glu2274Gly) n.790A>G n.593A>G c.6776A>G (p.Glu2259Gly) c.6935A>G (p.Glu2312Gly) c.6920A>G (p.Glu2307Gly) c.6875A>G (p.Glu2292Gly) c.6857A>G (p.Glu2286Gly) c.6854A>G (p.Glu2285Gly) c.6839A>G (p.Glu2280Gly) c.6812A>G (p.Glu2271Gly) c.6797A>G (p.Glu2266Gly) c.6818A>G (p.Glu2273Gly) c.6794A>G (p.Glu2265Gly) | gnomAD v4 |
9 | g.128632200A>T | CA375097812 | SPTAN1 | c.6872A>T (p.Glu2291Val) c.6899A>T (p.Glu2300Val) c.6923A>T (p.Glu2308Val) c.6362A>T (p.Glu2121Val) c.4441A>T c.2778A>T c.6836A>T (p.Glu2279Val) n.560A>T c.6761A>T (p.Glu2254Val) c.6821A>T (p.Glu2274Val) n.790A>T n.593A>T c.6776A>T (p.Glu2259Val) c.6935A>T (p.Glu2312Val) c.6920A>T (p.Glu2307Val) c.6875A>T (p.Glu2292Val) c.6857A>T (p.Glu2286Val) c.6854A>T (p.Glu2285Val) c.6839A>T (p.Glu2280Val) c.6812A>T (p.Glu2271Val) c.6797A>T (p.Glu2266Val) c.6818A>T (p.Glu2273Val) c.6794A>T (p.Glu2265Val) | |
9 | g.128632201G>A | CA467304817 | SPTAN1 | c.6873G>A (p.Glu2291=) c.6900G>A (p.Glu2300=) c.6924G>A (p.Glu2308=) c.6363G>A (p.Glu2121=) c.4442G>A c.2779G>A c.6837G>A (p.Glu2279=) n.561G>A c.6762G>A (p.Glu2254=) c.6822G>A (p.Glu2274=) n.791G>A n.594G>A c.6777G>A (p.Glu2259=) c.6936G>A (p.Glu2312=) c.6921G>A (p.Glu2307=) c.6876G>A (p.Glu2292=) c.6858G>A (p.Glu2286=) c.6855G>A (p.Glu2285=) c.6840G>A (p.Glu2280=) c.6813G>A (p.Glu2271=) c.6798G>A (p.Glu2266=) c.6819G>A (p.Glu2273=) c.6795G>A (p.Glu2265=) | dbSNP |
9 | g.128632201G>C | CA375097819 | SPTAN1 | c.6873G>C (p.Glu2291Asp) c.6900G>C (p.Glu2300Asp) c.6924G>C (p.Glu2308Asp) c.6363G>C (p.Glu2121Asp) c.4442G>C c.2779G>C c.6837G>C (p.Glu2279Asp) n.561G>C c.6762G>C (p.Glu2254Asp) c.6822G>C (p.Glu2274Asp) n.791G>C n.594G>C c.6777G>C (p.Glu2259Asp) c.6936G>C (p.Glu2312Asp) c.6921G>C (p.Glu2307Asp) c.6876G>C (p.Glu2292Asp) c.6858G>C (p.Glu2286Asp) c.6855G>C (p.Glu2285Asp) c.6840G>C (p.Glu2280Asp) c.6813G>C (p.Glu2271Asp) c.6798G>C (p.Glu2266Asp) c.6819G>C (p.Glu2273Asp) c.6795G>C (p.Glu2265Asp) | |
9 | g.128632201G= | CA1880371242 | SPTAN1 | c.6873G= (p.Glu2291=) c.6900G= (p.Glu2300=) c.6924G= (p.Glu2308=) c.6363G= (p.Glu2121=) c.4442G= c.2779G= c.6837G= (p.Glu2279=) n.561G= c.6762G= (p.Glu2254=) c.6822G= (p.Glu2274=) n.791G= n.594G= c.6777G= (p.Glu2259=) c.6936G= (p.Glu2312=) c.6921G= (p.Glu2307=) c.6876G= (p.Glu2292=) c.6858G= (p.Glu2286=) c.6855G= (p.Glu2285=) c.6840G= (p.Glu2280=) c.6813G= (p.Glu2271=) c.6798G= (p.Glu2266=) c.6819G= (p.Glu2273=) c.6795G= (p.Glu2265=) | |
9 | g.128632201G>T | CA375097821 | SPTAN1 | c.6873G>T (p.Glu2291Asp) c.6900G>T (p.Glu2300Asp) c.6924G>T (p.Glu2308Asp) c.6363G>T (p.Glu2121Asp) c.4442G>T c.2779G>T c.6837G>T (p.Glu2279Asp) n.561G>T c.6762G>T (p.Glu2254Asp) c.6822G>T (p.Glu2274Asp) n.791G>T n.594G>T c.6777G>T (p.Glu2259Asp) c.6936G>T (p.Glu2312Asp) c.6921G>T (p.Glu2307Asp) c.6876G>T (p.Glu2292Asp) c.6858G>T (p.Glu2286Asp) c.6855G>T (p.Glu2285Asp) c.6840G>T (p.Glu2280Asp) c.6813G>T (p.Glu2271Asp) c.6798G>T (p.Glu2266Asp) c.6819G>T (p.Glu2273Asp) c.6795G>T (p.Glu2265Asp) | |
9 | g.128632202G>A | CA375097828 | SPTAN1 | c.6874G>A (p.Ala2292Thr) c.6901G>A (p.Ala2301Thr) c.6925G>A (p.Ala2309Thr) c.6364G>A (p.Ala2122Thr) c.4443G>A c.2780G>A c.6838G>A (p.Ala2280Thr) n.562G>A c.6763G>A (p.Ala2255Thr) c.6823G>A (p.Ala2275Thr) n.792G>A n.595G>A c.6778G>A (p.Ala2260Thr) c.6937G>A (p.Ala2313Thr) c.6922G>A (p.Ala2308Thr) c.6877G>A (p.Ala2293Thr) c.6859G>A (p.Ala2287Thr) c.6856G>A (p.Ala2286Thr) c.6841G>A (p.Ala2281Thr) c.6814G>A (p.Ala2272Thr) c.6799G>A (p.Ala2267Thr) c.6820G>A (p.Ala2274Thr) c.6796G>A (p.Ala2266Thr) | |
9 | g.128632202G>C | CA375097830 | SPTAN1 | c.6874G>C (p.Ala2292Pro) c.6901G>C (p.Ala2301Pro) c.6925G>C (p.Ala2309Pro) c.6364G>C (p.Ala2122Pro) c.4443G>C c.2780G>C c.6838G>C (p.Ala2280Pro) n.562G>C c.6763G>C (p.Ala2255Pro) c.6823G>C (p.Ala2275Pro) n.792G>C n.595G>C c.6778G>C (p.Ala2260Pro) c.6937G>C (p.Ala2313Pro) c.6922G>C (p.Ala2308Pro) c.6877G>C (p.Ala2293Pro) c.6859G>C (p.Ala2287Pro) c.6856G>C (p.Ala2286Pro) c.6841G>C (p.Ala2281Pro) c.6814G>C (p.Ala2272Pro) c.6799G>C (p.Ala2267Pro) c.6820G>C (p.Ala2274Pro) c.6796G>C (p.Ala2266Pro) | |
9 | g.128632202G>T | CA375097831 | SPTAN1 | c.6874G>T (p.Ala2292Ser) c.6901G>T (p.Ala2301Ser) c.6925G>T (p.Ala2309Ser) c.6364G>T (p.Ala2122Ser) c.4443G>T c.2780G>T c.6838G>T (p.Ala2280Ser) n.562G>T c.6763G>T (p.Ala2255Ser) c.6823G>T (p.Ala2275Ser) n.792G>T n.595G>T c.6778G>T (p.Ala2260Ser) c.6937G>T (p.Ala2313Ser) c.6922G>T (p.Ala2308Ser) c.6877G>T (p.Ala2293Ser) c.6859G>T (p.Ala2287Ser) c.6856G>T (p.Ala2286Ser) c.6841G>T (p.Ala2281Ser) c.6814G>T (p.Ala2272Ser) c.6799G>T (p.Ala2267Ser) c.6820G>T (p.Ala2274Ser) c.6796G>T (p.Ala2266Ser) | gnomAD v4 |
9 | g.128632203C>A | CA375097834 | SPTAN1 | c.6875C>A (p.Ala2292Asp) c.6902C>A (p.Ala2301Asp) c.6926C>A (p.Ala2309Asp) c.6365C>A (p.Ala2122Asp) c.4444C>A c.2781C>A c.6839C>A (p.Ala2280Asp) n.563C>A c.6764C>A (p.Ala2255Asp) c.6824C>A (p.Ala2275Asp) n.793C>A n.596C>A c.6779C>A (p.Ala2260Asp) c.6938C>A (p.Ala2313Asp) c.6923C>A (p.Ala2308Asp) c.6878C>A (p.Ala2293Asp) c.6860C>A (p.Ala2287Asp) c.6857C>A (p.Ala2286Asp) c.6842C>A (p.Ala2281Asp) c.6815C>A (p.Ala2272Asp) c.6800C>A (p.Ala2267Asp) c.6821C>A (p.Ala2274Asp) c.6797C>A (p.Ala2266Asp) | |
9 | g.128632203C>G | CA375097838 | SPTAN1 | c.6875C>G (p.Ala2292Gly) c.6902C>G (p.Ala2301Gly) c.6926C>G (p.Ala2309Gly) c.6365C>G (p.Ala2122Gly) c.4444C>G c.2781C>G c.6839C>G (p.Ala2280Gly) n.563C>G c.6764C>G (p.Ala2255Gly) c.6824C>G (p.Ala2275Gly) n.793C>G n.596C>G c.6779C>G (p.Ala2260Gly) c.6938C>G (p.Ala2313Gly) c.6923C>G (p.Ala2308Gly) c.6878C>G (p.Ala2293Gly) c.6860C>G (p.Ala2287Gly) c.6857C>G (p.Ala2286Gly) c.6842C>G (p.Ala2281Gly) c.6815C>G (p.Ala2272Gly) c.6800C>G (p.Ala2267Gly) c.6821C>G (p.Ala2274Gly) c.6797C>G (p.Ala2266Gly) | |
9 | g.128632203C>T | CA375097836 | SPTAN1 | c.6875C>T (p.Ala2292Val) c.6902C>T (p.Ala2301Val) c.6926C>T (p.Ala2309Val) c.6365C>T (p.Ala2122Val) c.4444C>T c.2781C>T c.6839C>T (p.Ala2280Val) n.563C>T c.6764C>T (p.Ala2255Val) c.6824C>T (p.Ala2275Val) n.793C>T n.596C>T c.6779C>T (p.Ala2260Val) c.6938C>T (p.Ala2313Val) c.6923C>T (p.Ala2308Val) c.6878C>T (p.Ala2293Val) c.6860C>T (p.Ala2287Val) c.6857C>T (p.Ala2286Val) c.6842C>T (p.Ala2281Val) c.6815C>T (p.Ala2272Val) c.6800C>T (p.Ala2267Val) c.6821C>T (p.Ala2274Val) c.6797C>T (p.Ala2266Val) | gnomAD v4 |
9 | g.128632203_128632209delinsCCCTCAT | CA1880371243 | SPTAN1 | c.6875_6881delinsCCCTCAT (p.Ala2292=) c.6902_6908delinsCCCTCAT (p.Ala2301=) c.6926_6932delinsCCCTCAT (p.Ala2309=) c.6365_6371delinsCCCTCAT (p.Ala2122=) c.4444_4450delinsCCCTCAT c.2781_2787delinsCCCTCAT c.6839_6845delinsCCCTCAT (p.Ala2280=) n.563_569delinsCCCTCAT c.6764_6770delinsCCCTCAT (p.Ala2255=) c.6824_6830delinsCCCTCAT (p.Ala2275=) n.793_799delinsCCCTCAT n.596_602delinsCCCTCAT c.6779_6785delinsCCCTCAT (p.Ala2260=) c.6938_6944delinsCCCTCAT (p.Ala2313=) c.6923_6929delinsCCCTCAT (p.Ala2308=) c.6878_6884delinsCCCTCAT (p.Ala2293=) c.6860_6866delinsCCCTCAT (p.Ala2287=) c.6857_6863delinsCCCTCAT (p.Ala2286=) c.6842_6848delinsCCCTCAT (p.Ala2281=) c.6815_6821delinsCCCTCAT (p.Ala2272=) c.6800_6806delinsCCCTCAT (p.Ala2267=) c.6821_6827delinsCCCTCAT (p.Ala2274=) c.6797_6803delinsCCCTCAT (p.Ala2266=) | |
9 | g.128632204C>A | CA467304818 | SPTAN1 | c.6876C>A (p.Ala2292=) c.6903C>A (p.Ala2301=) c.6927C>A (p.Ala2309=) c.6366C>A (p.Ala2122=) c.4445C>A c.2782C>A c.6840C>A (p.Ala2280=) n.564C>A c.6765C>A (p.Ala2255=) c.6825C>A (p.Ala2275=) n.794C>A n.597C>A c.6780C>A (p.Ala2260=) c.6939C>A (p.Ala2313=) c.6924C>A (p.Ala2308=) c.6879C>A (p.Ala2293=) c.6861C>A (p.Ala2287=) c.6858C>A (p.Ala2286=) c.6843C>A (p.Ala2281=) c.6816C>A (p.Ala2272=) c.6801C>A (p.Ala2267=) c.6822C>A (p.Ala2274=) c.6798C>A (p.Ala2266=) | |
9 | g.128632204C= | CA1880371244 | SPTAN1 | c.6876C= (p.Ala2292=) c.6903C= (p.Ala2301=) c.6927C= (p.Ala2309=) c.6366C= (p.Ala2122=) c.4445C= c.2782C= c.6840C= (p.Ala2280=) n.564C= c.6765C= (p.Ala2255=) c.6825C= (p.Ala2275=) n.794C= n.597C= c.6780C= (p.Ala2260=) c.6939C= (p.Ala2313=) c.6924C= (p.Ala2308=) c.6879C= (p.Ala2293=) c.6861C= (p.Ala2287=) c.6858C= (p.Ala2286=) c.6843C= (p.Ala2281=) c.6816C= (p.Ala2272=) c.6801C= (p.Ala2267=) c.6822C= (p.Ala2274=) c.6798C= (p.Ala2266=) | |
9 | g.128632204C>G | CA467304819 | SPTAN1 | c.6876C>G (p.Ala2292=) c.6903C>G (p.Ala2301=) c.6927C>G (p.Ala2309=) c.6366C>G (p.Ala2122=) c.4445C>G c.2782C>G c.6840C>G (p.Ala2280=) n.564C>G c.6765C>G (p.Ala2255=) c.6825C>G (p.Ala2275=) n.794C>G n.597C>G c.6780C>G (p.Ala2260=) c.6939C>G (p.Ala2313=) c.6924C>G (p.Ala2308=) c.6879C>G (p.Ala2293=) c.6861C>G (p.Ala2287=) c.6858C>G (p.Ala2286=) c.6843C>G (p.Ala2281=) c.6816C>G (p.Ala2272=) c.6801C>G (p.Ala2267=) c.6822C>G (p.Ala2274=) c.6798C>G (p.Ala2266=) | |
9 | g.128632204C>T | CA5265922 | SPTAN1 | c.6876C>T (p.Ala2292=) c.6903C>T (p.Ala2301=) c.6927C>T (p.Ala2309=) c.6366C>T (p.Ala2122=) c.4445C>T c.2782C>T c.6840C>T (p.Ala2280=) n.564C>T c.6765C>T (p.Ala2255=) c.6825C>T (p.Ala2275=) n.794C>T n.597C>T c.6780C>T (p.Ala2260=) c.6939C>T (p.Ala2313=) c.6924C>T (p.Ala2308=) c.6879C>T (p.Ala2293=) c.6861C>T (p.Ala2287=) c.6858C>T (p.Ala2286=) c.6843C>T (p.Ala2281=) c.6816C>T (p.Ala2272=) c.6801C>T (p.Ala2267=) c.6822C>T (p.Ala2274=) c.6798C>T (p.Ala2266=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632207_128632212del | CA915947578 | SPTAN1 | c.6879_6884del (p.Ile2294_Leu2295del) c.6906_6911del (p.Ile2303_Leu2304del) c.6930_6935del (p.Ile2311_Leu2312del) c.6369_6374del (p.Ile2124_Leu2125del) c.4448_4453del c.2785_2790del c.6843_6848del (p.Ile2282_Leu2283del) n.567_572del c.6768_6773del (p.Ile2257_Leu2258del) c.6828_6833del (p.Ile2277_Leu2278del) n.797_802del n.600_605del c.6783_6788del (p.Ile2262_Leu2263del) c.6942_6947del (p.Ile2315_Leu2316del) c.6927_6932del (p.Ile2310_Leu2311del) c.6882_6887del (p.Ile2295_Leu2296del) c.6864_6869del (p.Ile2289_Leu2290del) c.6861_6866del (p.Ile2288_Leu2289del) c.6846_6851del (p.Ile2283_Leu2284del) c.6819_6824del (p.Ile2274_Leu2275del) c.6804_6809del (p.Ile2269_Leu2270del) c.6825_6830del (p.Ile2276_Leu2277del) c.6801_6806del (p.Ile2268_Leu2269del) | ClinVar dbSNP |
9 | g.128632205C>A | CA375097843 | SPTAN1 | c.6877C>A (p.Leu2293Ile) c.6904C>A (p.Leu2302Ile) c.6928C>A (p.Leu2310Ile) c.6367C>A (p.Leu2123Ile) c.4446C>A c.2783C>A c.6841C>A (p.Leu2281Ile) n.565C>A c.6766C>A (p.Leu2256Ile) c.6826C>A (p.Leu2276Ile) n.795C>A n.598C>A c.6781C>A (p.Leu2261Ile) c.6940C>A (p.Leu2314Ile) c.6925C>A (p.Leu2309Ile) c.6880C>A (p.Leu2294Ile) c.6862C>A (p.Leu2288Ile) c.6859C>A (p.Leu2287Ile) c.6844C>A (p.Leu2282Ile) c.6817C>A (p.Leu2273Ile) c.6802C>A (p.Leu2268Ile) c.6823C>A (p.Leu2275Ile) c.6799C>A (p.Leu2267Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.128632205C= | CA1880371245 | SPTAN1 | c.6877C= (p.Leu2293=) c.6904C= (p.Leu2302=) c.6928C= (p.Leu2310=) c.6367C= (p.Leu2123=) c.4446C= c.2783C= c.6841C= (p.Leu2281=) n.565C= c.6766C= (p.Leu2256=) c.6826C= (p.Leu2276=) n.795C= n.598C= c.6781C= (p.Leu2261=) c.6940C= (p.Leu2314=) c.6925C= (p.Leu2309=) c.6880C= (p.Leu2294=) c.6862C= (p.Leu2288=) c.6859C= (p.Leu2287=) c.6844C= (p.Leu2282=) c.6817C= (p.Leu2273=) c.6802C= (p.Leu2268=) c.6823C= (p.Leu2275=) c.6799C= (p.Leu2267=) | |
9 | g.128632205C>G | CA375097861 | SPTAN1 | c.6877C>G (p.Leu2293Val) c.6904C>G (p.Leu2302Val) c.6928C>G (p.Leu2310Val) c.6367C>G (p.Leu2123Val) c.4446C>G c.2783C>G c.6841C>G (p.Leu2281Val) n.565C>G c.6766C>G (p.Leu2256Val) c.6826C>G (p.Leu2276Val) n.795C>G n.598C>G c.6781C>G (p.Leu2261Val) c.6940C>G (p.Leu2314Val) c.6925C>G (p.Leu2309Val) c.6880C>G (p.Leu2294Val) c.6862C>G (p.Leu2288Val) c.6859C>G (p.Leu2287Val) c.6844C>G (p.Leu2282Val) c.6817C>G (p.Leu2273Val) c.6802C>G (p.Leu2268Val) c.6823C>G (p.Leu2275Val) c.6799C>G (p.Leu2267Val) | |
9 | g.128632205C>T | CA375097862 | SPTAN1 | c.6877C>T (p.Leu2293Phe) c.6904C>T (p.Leu2302Phe) c.6928C>T (p.Leu2310Phe) c.6367C>T (p.Leu2123Phe) c.4446C>T c.2783C>T c.6841C>T (p.Leu2281Phe) n.565C>T c.6766C>T (p.Leu2256Phe) c.6826C>T (p.Leu2276Phe) n.795C>T n.598C>T c.6781C>T (p.Leu2261Phe) c.6940C>T (p.Leu2314Phe) c.6925C>T (p.Leu2309Phe) c.6880C>T (p.Leu2294Phe) c.6862C>T (p.Leu2288Phe) c.6859C>T (p.Leu2287Phe) c.6844C>T (p.Leu2282Phe) c.6817C>T (p.Leu2273Phe) c.6802C>T (p.Leu2268Phe) c.6823C>T (p.Leu2275Phe) c.6799C>T (p.Leu2267Phe) | |
9 | g.128632206T>A | CA375097869 | SPTAN1 | c.6878T>A (p.Leu2293His) c.6905T>A (p.Leu2302His) c.6929T>A (p.Leu2310His) c.6368T>A (p.Leu2123His) c.4447T>A c.2784T>A c.6842T>A (p.Leu2281His) n.566T>A c.6767T>A (p.Leu2256His) c.6827T>A (p.Leu2276His) n.796T>A n.599T>A c.6782T>A (p.Leu2261His) c.6941T>A (p.Leu2314His) c.6926T>A (p.Leu2309His) c.6881T>A (p.Leu2294His) c.6863T>A (p.Leu2288His) c.6860T>A (p.Leu2287His) c.6845T>A (p.Leu2282His) c.6818T>A (p.Leu2273His) c.6803T>A (p.Leu2268His) c.6824T>A (p.Leu2275His) c.6800T>A (p.Leu2267His) | |
9 | g.128632206T>C | CA375097875 | SPTAN1 | c.6878T>C (p.Leu2293Pro) c.6905T>C (p.Leu2302Pro) c.6929T>C (p.Leu2310Pro) c.6368T>C (p.Leu2123Pro) c.4447T>C c.2784T>C c.6842T>C (p.Leu2281Pro) n.566T>C c.6767T>C (p.Leu2256Pro) c.6827T>C (p.Leu2276Pro) n.796T>C n.599T>C c.6782T>C (p.Leu2261Pro) c.6941T>C (p.Leu2314Pro) c.6926T>C (p.Leu2309Pro) c.6881T>C (p.Leu2294Pro) c.6863T>C (p.Leu2288Pro) c.6860T>C (p.Leu2287Pro) c.6845T>C (p.Leu2282Pro) c.6818T>C (p.Leu2273Pro) c.6803T>C (p.Leu2268Pro) c.6824T>C (p.Leu2275Pro) c.6800T>C (p.Leu2267Pro) | |
9 | g.128632206T>G | CA375097878 | SPTAN1 | c.6878T>G (p.Leu2293Arg) c.6905T>G (p.Leu2302Arg) c.6929T>G (p.Leu2310Arg) c.6368T>G (p.Leu2123Arg) c.4447T>G c.2784T>G c.6842T>G (p.Leu2281Arg) n.566T>G c.6767T>G (p.Leu2256Arg) c.6827T>G (p.Leu2276Arg) n.796T>G n.599T>G c.6782T>G (p.Leu2261Arg) c.6941T>G (p.Leu2314Arg) c.6926T>G (p.Leu2309Arg) c.6881T>G (p.Leu2294Arg) c.6863T>G (p.Leu2288Arg) c.6860T>G (p.Leu2287Arg) c.6845T>G (p.Leu2282Arg) c.6818T>G (p.Leu2273Arg) c.6803T>G (p.Leu2268Arg) c.6824T>G (p.Leu2275Arg) c.6800T>G (p.Leu2267Arg) | |
9 | g.128632207C>A | CA467304820 | SPTAN1 | c.6879C>A (p.Leu2293=) c.6906C>A (p.Leu2302=) c.6930C>A (p.Leu2310=) c.6369C>A (p.Leu2123=) c.4448C>A c.2785C>A c.6843C>A (p.Leu2281=) n.567C>A c.6768C>A (p.Leu2256=) c.6828C>A (p.Leu2276=) n.797C>A n.600C>A c.6783C>A (p.Leu2261=) c.6942C>A (p.Leu2314=) c.6927C>A (p.Leu2309=) c.6882C>A (p.Leu2294=) c.6864C>A (p.Leu2288=) c.6861C>A (p.Leu2287=) c.6846C>A (p.Leu2282=) c.6819C>A (p.Leu2273=) c.6804C>A (p.Leu2268=) c.6825C>A (p.Leu2275=) c.6801C>A (p.Leu2267=) | |
9 | g.128632207C= | CA1880371246 | SPTAN1 | c.6879C= (p.Leu2293=) c.6906C= (p.Leu2302=) c.6930C= (p.Leu2310=) c.6369C= (p.Leu2123=) c.4448C= c.2785C= c.6843C= (p.Leu2281=) n.567C= c.6768C= (p.Leu2256=) c.6828C= (p.Leu2276=) n.797C= n.600C= c.6783C= (p.Leu2261=) c.6942C= (p.Leu2314=) c.6927C= (p.Leu2309=) c.6882C= (p.Leu2294=) c.6864C= (p.Leu2288=) c.6861C= (p.Leu2287=) c.6846C= (p.Leu2282=) c.6819C= (p.Leu2273=) c.6804C= (p.Leu2268=) c.6825C= (p.Leu2275=) c.6801C= (p.Leu2267=) | |
9 | g.128632207C>G | CA467304821 | SPTAN1 | c.6879C>G (p.Leu2293=) c.6906C>G (p.Leu2302=) c.6930C>G (p.Leu2310=) c.6369C>G (p.Leu2123=) c.4448C>G c.2785C>G c.6843C>G (p.Leu2281=) n.567C>G c.6768C>G (p.Leu2256=) c.6828C>G (p.Leu2276=) n.797C>G n.600C>G c.6783C>G (p.Leu2261=) c.6942C>G (p.Leu2314=) c.6927C>G (p.Leu2309=) c.6882C>G (p.Leu2294=) c.6864C>G (p.Leu2288=) c.6861C>G (p.Leu2287=) c.6846C>G (p.Leu2282=) c.6819C>G (p.Leu2273=) c.6804C>G (p.Leu2268=) c.6825C>G (p.Leu2275=) c.6801C>G (p.Leu2267=) | |
9 | g.128632207C>T | CA467304822 | SPTAN1 | c.6879C>T (p.Leu2293=) c.6906C>T (p.Leu2302=) c.6930C>T (p.Leu2310=) c.6369C>T (p.Leu2123=) c.4448C>T c.2785C>T c.6843C>T (p.Leu2281=) n.567C>T c.6768C>T (p.Leu2256=) c.6828C>T (p.Leu2276=) n.797C>T n.600C>T c.6783C>T (p.Leu2261=) c.6942C>T (p.Leu2314=) c.6927C>T (p.Leu2309=) c.6882C>T (p.Leu2294=) c.6864C>T (p.Leu2288=) c.6861C>T (p.Leu2287=) c.6846C>T (p.Leu2282=) c.6819C>T (p.Leu2273=) c.6804C>T (p.Leu2268=) c.6825C>T (p.Leu2275=) c.6801C>T (p.Leu2267=) | dbSNP |
9 | g.128632208A>C | CA375097882 | SPTAN1 | c.6880A>C (p.Ile2294Leu) c.6907A>C (p.Ile2303Leu) c.6931A>C (p.Ile2311Leu) c.6370A>C (p.Ile2124Leu) c.4449A>C c.2786A>C c.6844A>C (p.Ile2282Leu) n.568A>C c.6769A>C (p.Ile2257Leu) c.6829A>C (p.Ile2277Leu) n.798A>C n.601A>C c.6784A>C (p.Ile2262Leu) c.6943A>C (p.Ile2315Leu) c.6928A>C (p.Ile2310Leu) c.6883A>C (p.Ile2295Leu) c.6865A>C (p.Ile2289Leu) c.6862A>C (p.Ile2288Leu) c.6847A>C (p.Ile2283Leu) c.6820A>C (p.Ile2274Leu) c.6805A>C (p.Ile2269Leu) c.6826A>C (p.Ile2276Leu) c.6802A>C (p.Ile2268Leu) | |
9 | g.128632208A>G | CA375097885 | SPTAN1 | c.6880A>G (p.Ile2294Val) c.6907A>G (p.Ile2303Val) c.6931A>G (p.Ile2311Val) c.6370A>G (p.Ile2124Val) c.4449A>G c.2786A>G c.6844A>G (p.Ile2282Val) n.568A>G c.6769A>G (p.Ile2257Val) c.6829A>G (p.Ile2277Val) n.798A>G n.601A>G c.6784A>G (p.Ile2262Val) c.6943A>G (p.Ile2315Val) c.6928A>G (p.Ile2310Val) c.6883A>G (p.Ile2295Val) c.6865A>G (p.Ile2289Val) c.6862A>G (p.Ile2288Val) c.6847A>G (p.Ile2283Val) c.6820A>G (p.Ile2274Val) c.6805A>G (p.Ile2269Val) c.6826A>G (p.Ile2276Val) c.6802A>G (p.Ile2268Val) | gnomAD v4 |
9 | g.128632208A>T | CA375097893 | SPTAN1 | c.6880A>T (p.Ile2294Phe) c.6907A>T (p.Ile2303Phe) c.6931A>T (p.Ile2311Phe) c.6370A>T (p.Ile2124Phe) c.4449A>T c.2786A>T c.6844A>T (p.Ile2282Phe) n.568A>T c.6769A>T (p.Ile2257Phe) c.6829A>T (p.Ile2277Phe) n.798A>T n.601A>T c.6784A>T (p.Ile2262Phe) c.6943A>T (p.Ile2315Phe) c.6928A>T (p.Ile2310Phe) c.6883A>T (p.Ile2295Phe) c.6865A>T (p.Ile2289Phe) c.6862A>T (p.Ile2288Phe) c.6847A>T (p.Ile2283Phe) c.6820A>T (p.Ile2274Phe) c.6805A>T (p.Ile2269Phe) c.6826A>T (p.Ile2276Phe) c.6802A>T (p.Ile2268Phe) | |
9 | g.128632209T>A | CA375097917 | SPTAN1 | c.6881T>A (p.Ile2294Asn) c.6908T>A (p.Ile2303Asn) c.6932T>A (p.Ile2311Asn) c.6371T>A (p.Ile2124Asn) c.4450T>A c.2787T>A c.6845T>A (p.Ile2282Asn) n.569T>A c.6770T>A (p.Ile2257Asn) c.6830T>A (p.Ile2277Asn) n.799T>A n.602T>A c.6785T>A (p.Ile2262Asn) c.6944T>A (p.Ile2315Asn) c.6929T>A (p.Ile2310Asn) c.6884T>A (p.Ile2295Asn) c.6866T>A (p.Ile2289Asn) c.6863T>A (p.Ile2288Asn) c.6848T>A (p.Ile2283Asn) c.6821T>A (p.Ile2274Asn) c.6806T>A (p.Ile2269Asn) c.6827T>A (p.Ile2276Asn) c.6803T>A (p.Ile2268Asn) | |
9 | g.128632209T>C | CA375097912 | SPTAN1 | c.6881T>C (p.Ile2294Thr) c.6908T>C (p.Ile2303Thr) c.6932T>C (p.Ile2311Thr) c.6371T>C (p.Ile2124Thr) c.4450T>C c.2787T>C c.6845T>C (p.Ile2282Thr) n.569T>C c.6770T>C (p.Ile2257Thr) c.6830T>C (p.Ile2277Thr) n.799T>C n.602T>C c.6785T>C (p.Ile2262Thr) c.6944T>C (p.Ile2315Thr) c.6929T>C (p.Ile2310Thr) c.6884T>C (p.Ile2295Thr) c.6866T>C (p.Ile2289Thr) c.6863T>C (p.Ile2288Thr) c.6848T>C (p.Ile2283Thr) c.6821T>C (p.Ile2274Thr) c.6806T>C (p.Ile2269Thr) c.6827T>C (p.Ile2276Thr) c.6803T>C (p.Ile2268Thr) | |
9 | g.128632209T>G | CA375097909 | SPTAN1 | c.6881T>G (p.Ile2294Ser) c.6908T>G (p.Ile2303Ser) c.6932T>G (p.Ile2311Ser) c.6371T>G (p.Ile2124Ser) c.4450T>G c.2787T>G c.6845T>G (p.Ile2282Ser) n.569T>G c.6770T>G (p.Ile2257Ser) c.6830T>G (p.Ile2277Ser) n.799T>G n.602T>G c.6785T>G (p.Ile2262Ser) c.6944T>G (p.Ile2315Ser) c.6929T>G (p.Ile2310Ser) c.6884T>G (p.Ile2295Ser) c.6866T>G (p.Ile2289Ser) c.6863T>G (p.Ile2288Ser) c.6848T>G (p.Ile2283Ser) c.6821T>G (p.Ile2274Ser) c.6806T>G (p.Ile2269Ser) c.6827T>G (p.Ile2276Ser) c.6803T>G (p.Ile2268Ser) | |
9 | g.128632210C>A | CA467304824 | SPTAN1 | c.6882C>A (p.Ile2294=) c.6909C>A (p.Ile2303=) c.6933C>A (p.Ile2311=) c.6372C>A (p.Ile2124=) c.4451C>A c.2788C>A c.6846C>A (p.Ile2282=) n.570C>A c.6771C>A (p.Ile2257=) c.6831C>A (p.Ile2277=) n.800C>A n.603C>A c.6786C>A (p.Ile2262=) c.6945C>A (p.Ile2315=) c.6930C>A (p.Ile2310=) c.6885C>A (p.Ile2295=) c.6867C>A (p.Ile2289=) c.6864C>A (p.Ile2288=) c.6849C>A (p.Ile2283=) c.6822C>A (p.Ile2274=) c.6807C>A (p.Ile2269=) c.6828C>A (p.Ile2276=) c.6804C>A (p.Ile2268=) | |
9 | g.128632210C= | CA1880371247 | SPTAN1 | c.6882C= (p.Ile2294=) c.6909C= (p.Ile2303=) c.6933C= (p.Ile2311=) c.6372C= (p.Ile2124=) c.4451C= c.2788C= c.6846C= (p.Ile2282=) n.570C= c.6771C= (p.Ile2257=) c.6831C= (p.Ile2277=) n.800C= n.603C= c.6786C= (p.Ile2262=) c.6945C= (p.Ile2315=) c.6930C= (p.Ile2310=) c.6885C= (p.Ile2295=) c.6867C= (p.Ile2289=) c.6864C= (p.Ile2288=) c.6849C= (p.Ile2283=) c.6822C= (p.Ile2274=) c.6807C= (p.Ile2269=) c.6828C= (p.Ile2276=) c.6804C= (p.Ile2268=) | |
9 | g.128632210C>G | CA375097934 | SPTAN1 | c.6882C>G (p.Ile2294Met) c.6909C>G (p.Ile2303Met) c.6933C>G (p.Ile2311Met) c.6372C>G (p.Ile2124Met) c.4451C>G c.2788C>G c.6846C>G (p.Ile2282Met) n.570C>G c.6771C>G (p.Ile2257Met) c.6831C>G (p.Ile2277Met) n.800C>G n.603C>G c.6786C>G (p.Ile2262Met) c.6945C>G (p.Ile2315Met) c.6930C>G (p.Ile2310Met) c.6885C>G (p.Ile2295Met) c.6867C>G (p.Ile2289Met) c.6864C>G (p.Ile2288Met) c.6849C>G (p.Ile2283Met) c.6822C>G (p.Ile2274Met) c.6807C>G (p.Ile2269Met) c.6828C>G (p.Ile2276Met) c.6804C>G (p.Ile2268Met) | |
9 | g.128632210C>T | CA467304823 | SPTAN1 | c.6882C>T (p.Ile2294=) c.6909C>T (p.Ile2303=) c.6933C>T (p.Ile2311=) c.6372C>T (p.Ile2124=) c.4451C>T c.2788C>T c.6846C>T (p.Ile2282=) n.570C>T c.6771C>T (p.Ile2257=) c.6831C>T (p.Ile2277=) n.800C>T n.603C>T c.6786C>T (p.Ile2262=) c.6945C>T (p.Ile2315=) c.6930C>T (p.Ile2310=) c.6885C>T (p.Ile2295=) c.6867C>T (p.Ile2289=) c.6864C>T (p.Ile2288=) c.6849C>T (p.Ile2283=) c.6822C>T (p.Ile2274=) c.6807C>T (p.Ile2269=) c.6828C>T (p.Ile2276=) c.6804C>T (p.Ile2268=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128632211C>A | CA375097944 | SPTAN1 | c.6883C>A (p.Leu2295Met) c.6910C>A (p.Leu2304Met) c.6934C>A (p.Leu2312Met) c.6373C>A (p.Leu2125Met) c.4452C>A c.2789C>A c.6847C>A (p.Leu2283Met) n.571C>A c.6772C>A (p.Leu2258Met) c.6832C>A (p.Leu2278Met) n.801C>A n.604C>A c.6787C>A (p.Leu2263Met) c.6946C>A (p.Leu2316Met) c.6931C>A (p.Leu2311Met) c.6886C>A (p.Leu2296Met) c.6868C>A (p.Leu2290Met) c.6865C>A (p.Leu2289Met) c.6850C>A (p.Leu2284Met) c.6823C>A (p.Leu2275Met) c.6808C>A (p.Leu2270Met) c.6829C>A (p.Leu2277Met) c.6805C>A (p.Leu2269Met) | |
9 | g.128632211C>G | CA375097950 | SPTAN1 | c.6883C>G (p.Leu2295Val) c.6910C>G (p.Leu2304Val) c.6934C>G (p.Leu2312Val) c.6373C>G (p.Leu2125Val) c.4452C>G c.2789C>G c.6847C>G (p.Leu2283Val) n.571C>G c.6772C>G (p.Leu2258Val) c.6832C>G (p.Leu2278Val) n.801C>G n.604C>G c.6787C>G (p.Leu2263Val) c.6946C>G (p.Leu2316Val) c.6931C>G (p.Leu2311Val) c.6886C>G (p.Leu2296Val) c.6868C>G (p.Leu2290Val) c.6865C>G (p.Leu2289Val) c.6850C>G (p.Leu2284Val) c.6823C>G (p.Leu2275Val) c.6808C>G (p.Leu2270Val) c.6829C>G (p.Leu2277Val) c.6805C>G (p.Leu2269Val) | |
9 | g.128632211C>T | CA467304825 | SPTAN1 | c.6883C>T (p.Leu2295=) c.6910C>T (p.Leu2304=) c.6934C>T (p.Leu2312=) c.6373C>T (p.Leu2125=) c.4452C>T c.2789C>T c.6847C>T (p.Leu2283=) n.571C>T c.6772C>T (p.Leu2258=) c.6832C>T (p.Leu2278=) n.801C>T n.604C>T c.6787C>T (p.Leu2263=) c.6946C>T (p.Leu2316=) c.6931C>T (p.Leu2311=) c.6886C>T (p.Leu2296=) c.6868C>T (p.Leu2290=) c.6865C>T (p.Leu2289=) c.6850C>T (p.Leu2284=) c.6823C>T (p.Leu2275=) c.6808C>T (p.Leu2270=) c.6829C>T (p.Leu2277=) c.6805C>T (p.Leu2269=) | |
9 | g.128632212T>A | CA375097955 | SPTAN1 | c.6884T>A (p.Leu2295Gln) c.6911T>A (p.Leu2304Gln) c.6935T>A (p.Leu2312Gln) c.6374T>A (p.Leu2125Gln) c.4453T>A c.2790T>A c.6848T>A (p.Leu2283Gln) n.572T>A c.6773T>A (p.Leu2258Gln) c.6833T>A (p.Leu2278Gln) n.802T>A n.605T>A c.6788T>A (p.Leu2263Gln) c.6947T>A (p.Leu2316Gln) c.6932T>A (p.Leu2311Gln) c.6887T>A (p.Leu2296Gln) c.6869T>A (p.Leu2290Gln) c.6866T>A (p.Leu2289Gln) c.6851T>A (p.Leu2284Gln) c.6824T>A (p.Leu2275Gln) c.6809T>A (p.Leu2270Gln) c.6830T>A (p.Leu2277Gln) c.6806T>A (p.Leu2269Gln) | |
9 | g.128632212T>C | CA375097958 | SPTAN1 | c.6884T>C (p.Leu2295Pro) c.6911T>C (p.Leu2304Pro) c.6935T>C (p.Leu2312Pro) c.6374T>C (p.Leu2125Pro) c.4453T>C c.2790T>C c.6848T>C (p.Leu2283Pro) n.572T>C c.6773T>C (p.Leu2258Pro) c.6833T>C (p.Leu2278Pro) n.802T>C n.605T>C c.6788T>C (p.Leu2263Pro) c.6947T>C (p.Leu2316Pro) c.6932T>C (p.Leu2311Pro) c.6887T>C (p.Leu2296Pro) c.6869T>C (p.Leu2290Pro) c.6866T>C (p.Leu2289Pro) c.6851T>C (p.Leu2284Pro) c.6824T>C (p.Leu2275Pro) c.6809T>C (p.Leu2270Pro) c.6830T>C (p.Leu2277Pro) c.6806T>C (p.Leu2269Pro) | |
9 | g.128632212T>G | CA375097962 | SPTAN1 | c.6884T>G (p.Leu2295Arg) c.6911T>G (p.Leu2304Arg) c.6935T>G (p.Leu2312Arg) c.6374T>G (p.Leu2125Arg) c.4453T>G c.2790T>G c.6848T>G (p.Leu2283Arg) n.572T>G c.6773T>G (p.Leu2258Arg) c.6833T>G (p.Leu2278Arg) n.802T>G n.605T>G c.6788T>G (p.Leu2263Arg) c.6947T>G (p.Leu2316Arg) c.6932T>G (p.Leu2311Arg) c.6887T>G (p.Leu2296Arg) c.6869T>G (p.Leu2290Arg) c.6866T>G (p.Leu2289Arg) c.6851T>G (p.Leu2284Arg) c.6824T>G (p.Leu2275Arg) c.6809T>G (p.Leu2270Arg) c.6830T>G (p.Leu2277Arg) c.6806T>G (p.Leu2269Arg) | |
9 | g.128632213G>A | CA467304826 | SPTAN1 | c.6885G>A (p.Leu2295=) c.6912G>A (p.Leu2304=) c.6936G>A (p.Leu2312=) c.6375G>A (p.Leu2125=) c.4454G>A c.2791G>A c.6849G>A (p.Leu2283=) n.573G>A c.6774G>A (p.Leu2258=) c.6834G>A (p.Leu2278=) n.803G>A n.606G>A c.6789G>A (p.Leu2263=) c.6948G>A (p.Leu2316=) c.6933G>A (p.Leu2311=) c.6888G>A (p.Leu2296=) c.6870G>A (p.Leu2290=) c.6867G>A (p.Leu2289=) c.6852G>A (p.Leu2284=) c.6825G>A (p.Leu2275=) c.6810G>A (p.Leu2270=) c.6831G>A (p.Leu2277=) c.6807G>A (p.Leu2269=) | gnomAD v4 |
9 | g.128632213G>C | CA467304827 | SPTAN1 | c.6885G>C (p.Leu2295=) c.6912G>C (p.Leu2304=) c.6936G>C (p.Leu2312=) c.6375G>C (p.Leu2125=) c.4454G>C c.2791G>C c.6849G>C (p.Leu2283=) n.573G>C c.6774G>C (p.Leu2258=) c.6834G>C (p.Leu2278=) n.803G>C n.606G>C c.6789G>C (p.Leu2263=) c.6948G>C (p.Leu2316=) c.6933G>C (p.Leu2311=) c.6888G>C (p.Leu2296=) c.6870G>C (p.Leu2290=) c.6867G>C (p.Leu2289=) c.6852G>C (p.Leu2284=) c.6825G>C (p.Leu2275=) c.6810G>C (p.Leu2270=) c.6831G>C (p.Leu2277=) c.6807G>C (p.Leu2269=) | |
9 | g.128632213G>T | CA467304828 | SPTAN1 | c.6885G>T (p.Leu2295=) c.6912G>T (p.Leu2304=) c.6936G>T (p.Leu2312=) c.6375G>T (p.Leu2125=) c.4454G>T c.2791G>T c.6849G>T (p.Leu2283=) n.573G>T c.6774G>T (p.Leu2258=) c.6834G>T (p.Leu2278=) n.803G>T n.606G>T c.6789G>T (p.Leu2263=) c.6948G>T (p.Leu2316=) c.6933G>T (p.Leu2311=) c.6888G>T (p.Leu2296=) c.6870G>T (p.Leu2290=) c.6867G>T (p.Leu2289=) c.6852G>T (p.Leu2284=) c.6825G>T (p.Leu2275=) c.6810G>T (p.Leu2270=) c.6831G>T (p.Leu2277=) c.6807G>T (p.Leu2269=) | |
9 | g.128632214G>A | CA375097990 | SPTAN1 | c.6886G>A (p.Asp2296Asn) c.6913G>A (p.Asp2305Asn) c.6937G>A (p.Asp2313Asn) c.6376G>A (p.Asp2126Asn) c.4455G>A c.2792G>A c.6850G>A (p.Asp2284Asn) n.574G>A c.6775G>A (p.Asp2259Asn) c.6835G>A (p.Asp2279Asn) n.804G>A n.607G>A c.6790G>A (p.Asp2264Asn) c.6949G>A (p.Asp2317Asn) c.6934G>A (p.Asp2312Asn) c.6889G>A (p.Asp2297Asn) c.6871G>A (p.Asp2291Asn) c.6868G>A (p.Asp2290Asn) c.6853G>A (p.Asp2285Asn) c.6826G>A (p.Asp2276Asn) c.6811G>A (p.Asp2271Asn) c.6832G>A (p.Asp2278Asn) c.6808G>A (p.Asp2270Asn) | |
9 | g.128632214G>C | CA375097973 | SPTAN1 | c.6886G>C (p.Asp2296His) c.6913G>C (p.Asp2305His) c.6937G>C (p.Asp2313His) c.6376G>C (p.Asp2126His) c.4455G>C c.2792G>C c.6850G>C (p.Asp2284His) n.574G>C c.6775G>C (p.Asp2259His) c.6835G>C (p.Asp2279His) n.804G>C n.607G>C c.6790G>C (p.Asp2264His) c.6949G>C (p.Asp2317His) c.6934G>C (p.Asp2312His) c.6889G>C (p.Asp2297His) c.6871G>C (p.Asp2291His) c.6868G>C (p.Asp2290His) c.6853G>C (p.Asp2285His) c.6826G>C (p.Asp2276His) c.6811G>C (p.Asp2271His) c.6832G>C (p.Asp2278His) c.6808G>C (p.Asp2270His) | |
9 | g.128632214G>T | CA375097986 | SPTAN1 | c.6886G>T (p.Asp2296Tyr) c.6913G>T (p.Asp2305Tyr) c.6937G>T (p.Asp2313Tyr) c.6376G>T (p.Asp2126Tyr) c.4455G>T c.2792G>T c.6850G>T (p.Asp2284Tyr) n.574G>T c.6775G>T (p.Asp2259Tyr) c.6835G>T (p.Asp2279Tyr) n.804G>T n.607G>T c.6790G>T (p.Asp2264Tyr) c.6949G>T (p.Asp2317Tyr) c.6934G>T (p.Asp2312Tyr) c.6889G>T (p.Asp2297Tyr) c.6871G>T (p.Asp2291Tyr) c.6868G>T (p.Asp2290Tyr) c.6853G>T (p.Asp2285Tyr) c.6826G>T (p.Asp2276Tyr) c.6811G>T (p.Asp2271Tyr) c.6832G>T (p.Asp2278Tyr) c.6808G>T (p.Asp2270Tyr) | |
9 | g.128632214_128632216del | CA913184751 | SPTAN1 | c.6886_6888del (p.Asp2296del) c.6913_6915del (p.Asp2305del) c.6937_6939del (p.Asp2313del) c.6376_6378del (p.Asp2126del) c.4455_4457del c.2792_2794del c.6850_6852del (p.Asp2284del) n.574_576del c.6775_6777del (p.Asp2259del) c.6835_6837del (p.Asp2279del) n.804_806del n.607_609del c.6790_6792del (p.Asp2264del) c.6949_6951del (p.Asp2317del) c.6934_6936del (p.Asp2312del) c.6889_6891del (p.Asp2297del) c.6871_6873del (p.Asp2291del) c.6868_6870del (p.Asp2290del) c.6853_6855del (p.Asp2285del) c.6826_6828del (p.Asp2276del) c.6811_6813del (p.Asp2271del) c.6832_6834del (p.Asp2278del) c.6808_6810del (p.Asp2270del) | ClinVar dbSNP |
9 | g.128632215A>C | CA375097998 | SPTAN1 | c.6887A>C (p.Asp2296Ala) c.6914A>C (p.Asp2305Ala) c.6938A>C (p.Asp2313Ala) c.6377A>C (p.Asp2126Ala) c.4456A>C c.2793A>C c.6851A>C (p.Asp2284Ala) n.575A>C c.6776A>C (p.Asp2259Ala) c.6836A>C (p.Asp2279Ala) n.805A>C n.608A>C c.6791A>C (p.Asp2264Ala) c.6950A>C (p.Asp2317Ala) c.6935A>C (p.Asp2312Ala) c.6890A>C (p.Asp2297Ala) c.6872A>C (p.Asp2291Ala) c.6869A>C (p.Asp2290Ala) c.6854A>C (p.Asp2285Ala) c.6827A>C (p.Asp2276Ala) c.6812A>C (p.Asp2271Ala) c.6833A>C (p.Asp2278Ala) c.6809A>C (p.Asp2270Ala) | |
9 | g.128632215A>G | CA375098000 | SPTAN1 | c.6887A>G (p.Asp2296Gly) c.6914A>G (p.Asp2305Gly) c.6938A>G (p.Asp2313Gly) c.6377A>G (p.Asp2126Gly) c.4456A>G c.2793A>G c.6851A>G (p.Asp2284Gly) n.575A>G c.6776A>G (p.Asp2259Gly) c.6836A>G (p.Asp2279Gly) n.805A>G n.608A>G c.6791A>G (p.Asp2264Gly) c.6950A>G (p.Asp2317Gly) c.6935A>G (p.Asp2312Gly) c.6890A>G (p.Asp2297Gly) c.6872A>G (p.Asp2291Gly) c.6869A>G (p.Asp2290Gly) c.6854A>G (p.Asp2285Gly) c.6827A>G (p.Asp2276Gly) c.6812A>G (p.Asp2271Gly) c.6833A>G (p.Asp2278Gly) c.6809A>G (p.Asp2270Gly) | |
9 | g.128632215A>T | CA375098007 | SPTAN1 | c.6887A>T (p.Asp2296Val) c.6914A>T (p.Asp2305Val) c.6938A>T (p.Asp2313Val) c.6377A>T (p.Asp2126Val) c.4456A>T c.2793A>T c.6851A>T (p.Asp2284Val) n.575A>T c.6776A>T (p.Asp2259Val) c.6836A>T (p.Asp2279Val) n.805A>T n.608A>T c.6791A>T (p.Asp2264Val) c.6950A>T (p.Asp2317Val) c.6935A>T (p.Asp2312Val) c.6890A>T (p.Asp2297Val) c.6872A>T (p.Asp2291Val) c.6869A>T (p.Asp2290Val) c.6854A>T (p.Asp2285Val) c.6827A>T (p.Asp2276Val) c.6812A>T (p.Asp2271Val) c.6833A>T (p.Asp2278Val) c.6809A>T (p.Asp2270Val) | |
9 | g.128632219_128632221del | CA2579470529 | SPTAN1 | c.6891_6893del (p.Asn2297del) c.6918_6920del (p.Asn2306del) c.6942_6944del (p.Asn2314del) c.6381_6383del (p.Asn2127del) c.4460_4462del c.2797_2799del c.6855_6857del (p.Asn2285del) n.579_581del c.6780_6782del (p.Asn2260del) c.6840_6842del (p.Asn2280del) n.809_811del n.612_614del c.6795_6797del (p.Asn2265del) c.6954_6956del (p.Asn2318del) c.6939_6941del (p.Asn2313del) c.6894_6896del (p.Asn2298del) c.6876_6878del (p.Asn2292del) c.6873_6875del (p.Asn2291del) c.6858_6860del (p.Asn2286del) c.6831_6833del (p.Asn2277del) c.6816_6818del (p.Asn2272del) c.6837_6839del (p.Asn2279del) c.6813_6815del (p.Asn2271del) | ClinVar dbSNP |
9 | g.128632216C>A | CA375098017 | SPTAN1 | c.6888C>A (p.Asp2296Glu) c.6915C>A (p.Asp2305Glu) c.6939C>A (p.Asp2313Glu) c.6378C>A (p.Asp2126Glu) c.4457C>A c.2794C>A c.6852C>A (p.Asp2284Glu) n.576C>A c.6777C>A (p.Asp2259Glu) c.6837C>A (p.Asp2279Glu) n.806C>A n.609C>A c.6792C>A (p.Asp2264Glu) c.6951C>A (p.Asp2317Glu) c.6936C>A (p.Asp2312Glu) c.6891C>A (p.Asp2297Glu) c.6873C>A (p.Asp2291Glu) c.6870C>A (p.Asp2290Glu) c.6855C>A (p.Asp2285Glu) c.6828C>A (p.Asp2276Glu) c.6813C>A (p.Asp2271Glu) c.6834C>A (p.Asp2278Glu) c.6810C>A (p.Asp2270Glu) | |
9 | g.128632216C>G | CA375098019 | SPTAN1 | c.6888C>G (p.Asp2296Glu) c.6915C>G (p.Asp2305Glu) c.6939C>G (p.Asp2313Glu) c.6378C>G (p.Asp2126Glu) c.4457C>G c.2794C>G c.6852C>G (p.Asp2284Glu) n.576C>G c.6777C>G (p.Asp2259Glu) c.6837C>G (p.Asp2279Glu) n.806C>G n.609C>G c.6792C>G (p.Asp2264Glu) c.6951C>G (p.Asp2317Glu) c.6936C>G (p.Asp2312Glu) c.6891C>G (p.Asp2297Glu) c.6873C>G (p.Asp2291Glu) c.6870C>G (p.Asp2290Glu) c.6855C>G (p.Asp2285Glu) c.6828C>G (p.Asp2276Glu) c.6813C>G (p.Asp2271Glu) c.6834C>G (p.Asp2278Glu) c.6810C>G (p.Asp2270Glu) | |
9 | g.128632216C>T | CA467304829 | SPTAN1 | c.6888C>T (p.Asp2296=) c.6915C>T (p.Asp2305=) c.6939C>T (p.Asp2313=) c.6378C>T (p.Asp2126=) c.4457C>T c.2794C>T c.6852C>T (p.Asp2284=) n.576C>T c.6777C>T (p.Asp2259=) c.6837C>T (p.Asp2279=) n.806C>T n.609C>T c.6792C>T (p.Asp2264=) c.6951C>T (p.Asp2317=) c.6936C>T (p.Asp2312=) c.6891C>T (p.Asp2297=) c.6873C>T (p.Asp2291=) c.6870C>T (p.Asp2290=) c.6855C>T (p.Asp2285=) c.6828C>T (p.Asp2276=) c.6813C>T (p.Asp2271=) c.6834C>T (p.Asp2278=) c.6810C>T (p.Asp2270=) | |
9 | g.128632217A= | CA1880371248 | SPTAN1 | c.6889A= (p.Asn2297=) c.6916A= (p.Asn2306=) c.6940A= (p.Asn2314=) c.6379A= (p.Asn2127=) c.4458A= c.2795A= c.6853A= (p.Asn2285=) n.577A= c.6778A= (p.Asn2260=) c.6838A= (p.Asn2280=) n.807A= n.610A= c.6793A= (p.Asn2265=) c.6952A= (p.Asn2318=) c.6937A= (p.Asn2313=) c.6892A= (p.Asn2298=) c.6874A= (p.Asn2292=) c.6871A= (p.Asn2291=) c.6856A= (p.Asn2286=) c.6829A= (p.Asn2277=) c.6814A= (p.Asn2272=) c.6835A= (p.Asn2279=) c.6811A= (p.Asn2271=) | |
9 | g.128632217A>C | CA375098026 | SPTAN1 | c.6889A>C (p.Asn2297His) c.6916A>C (p.Asn2306His) c.6940A>C (p.Asn2314His) c.6379A>C (p.Asn2127His) c.4458A>C c.2795A>C c.6853A>C (p.Asn2285His) n.577A>C c.6778A>C (p.Asn2260His) c.6838A>C (p.Asn2280His) n.807A>C n.610A>C c.6793A>C (p.Asn2265His) c.6952A>C (p.Asn2318His) c.6937A>C (p.Asn2313His) c.6892A>C (p.Asn2298His) c.6874A>C (p.Asn2292His) c.6871A>C (p.Asn2291His) c.6856A>C (p.Asn2286His) c.6829A>C (p.Asn2277His) c.6814A>C (p.Asn2272His) c.6835A>C (p.Asn2279His) c.6811A>C (p.Asn2271His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632217A>G | CA375098037 | SPTAN1 | c.6889A>G (p.Asn2297Asp) c.6916A>G (p.Asn2306Asp) c.6940A>G (p.Asn2314Asp) c.6379A>G (p.Asn2127Asp) c.4458A>G c.2795A>G c.6853A>G (p.Asn2285Asp) n.577A>G c.6778A>G (p.Asn2260Asp) c.6838A>G (p.Asn2280Asp) n.807A>G n.610A>G c.6793A>G (p.Asn2265Asp) c.6952A>G (p.Asn2318Asp) c.6937A>G (p.Asn2313Asp) c.6892A>G (p.Asn2298Asp) c.6874A>G (p.Asn2292Asp) c.6871A>G (p.Asn2291Asp) c.6856A>G (p.Asn2286Asp) c.6829A>G (p.Asn2277Asp) c.6814A>G (p.Asn2272Asp) c.6835A>G (p.Asn2279Asp) c.6811A>G (p.Asn2271Asp) | |
9 | g.128632217A>T | CA375098033 | SPTAN1 | c.6889A>T (p.Asn2297Tyr) c.6916A>T (p.Asn2306Tyr) c.6940A>T (p.Asn2314Tyr) c.6379A>T (p.Asn2127Tyr) c.4458A>T c.2795A>T c.6853A>T (p.Asn2285Tyr) n.577A>T c.6778A>T (p.Asn2260Tyr) c.6838A>T (p.Asn2280Tyr) n.807A>T n.610A>T c.6793A>T (p.Asn2265Tyr) c.6952A>T (p.Asn2318Tyr) c.6937A>T (p.Asn2313Tyr) c.6892A>T (p.Asn2298Tyr) c.6874A>T (p.Asn2292Tyr) c.6871A>T (p.Asn2291Tyr) c.6856A>T (p.Asn2286Tyr) c.6829A>T (p.Asn2277Tyr) c.6814A>T (p.Asn2272Tyr) c.6835A>T (p.Asn2279Tyr) c.6811A>T (p.Asn2271Tyr) | |
9 | g.128632218A= | CA1880371249 | SPTAN1 | c.6890A= (p.Asn2297=) c.6917A= (p.Asn2306=) c.6941A= (p.Asn2314=) c.6380A= (p.Asn2127=) c.4459A= c.2796A= c.6854A= (p.Asn2285=) n.578A= c.6779A= (p.Asn2260=) c.6839A= (p.Asn2280=) n.808A= n.611A= c.6794A= (p.Asn2265=) c.6953A= (p.Asn2318=) c.6938A= (p.Asn2313=) c.6893A= (p.Asn2298=) c.6875A= (p.Asn2292=) c.6872A= (p.Asn2291=) c.6857A= (p.Asn2286=) c.6830A= (p.Asn2277=) c.6815A= (p.Asn2272=) c.6836A= (p.Asn2279=) c.6812A= (p.Asn2271=) | |
9 | g.128632218A>C | CA375098041 | SPTAN1 | c.6890A>C (p.Asn2297Thr) c.6917A>C (p.Asn2306Thr) c.6941A>C (p.Asn2314Thr) c.6380A>C (p.Asn2127Thr) c.4459A>C c.2796A>C c.6854A>C (p.Asn2285Thr) n.578A>C c.6779A>C (p.Asn2260Thr) c.6839A>C (p.Asn2280Thr) n.808A>C n.611A>C c.6794A>C (p.Asn2265Thr) c.6953A>C (p.Asn2318Thr) c.6938A>C (p.Asn2313Thr) c.6893A>C (p.Asn2298Thr) c.6875A>C (p.Asn2292Thr) c.6872A>C (p.Asn2291Thr) c.6857A>C (p.Asn2286Thr) c.6830A>C (p.Asn2277Thr) c.6815A>C (p.Asn2272Thr) c.6836A>C (p.Asn2279Thr) c.6812A>C (p.Asn2271Thr) | |
9 | g.128632218A>G | CA375098046 | SPTAN1 | c.6890A>G (p.Asn2297Ser) c.6917A>G (p.Asn2306Ser) c.6941A>G (p.Asn2314Ser) c.6380A>G (p.Asn2127Ser) c.4459A>G c.2796A>G c.6854A>G (p.Asn2285Ser) n.578A>G c.6779A>G (p.Asn2260Ser) c.6839A>G (p.Asn2280Ser) n.808A>G n.611A>G c.6794A>G (p.Asn2265Ser) c.6953A>G (p.Asn2318Ser) c.6938A>G (p.Asn2313Ser) c.6893A>G (p.Asn2298Ser) c.6875A>G (p.Asn2292Ser) c.6872A>G (p.Asn2291Ser) c.6857A>G (p.Asn2286Ser) c.6830A>G (p.Asn2277Ser) c.6815A>G (p.Asn2272Ser) c.6836A>G (p.Asn2279Ser) c.6812A>G (p.Asn2271Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.128632218A>T | CA375098062 | SPTAN1 | c.6890A>T (p.Asn2297Ile) c.6917A>T (p.Asn2306Ile) c.6941A>T (p.Asn2314Ile) c.6380A>T (p.Asn2127Ile) c.4459A>T c.2796A>T c.6854A>T (p.Asn2285Ile) n.578A>T c.6779A>T (p.Asn2260Ile) c.6839A>T (p.Asn2280Ile) n.808A>T n.611A>T c.6794A>T (p.Asn2265Ile) c.6953A>T (p.Asn2318Ile) c.6938A>T (p.Asn2313Ile) c.6893A>T (p.Asn2298Ile) c.6875A>T (p.Asn2292Ile) c.6872A>T (p.Asn2291Ile) c.6857A>T (p.Asn2286Ile) c.6830A>T (p.Asn2277Ile) c.6815A>T (p.Asn2272Ile) c.6836A>T (p.Asn2279Ile) c.6812A>T (p.Asn2271Ile) | |
9 | g.128632219C>A | CA375098064 | SPTAN1 | c.6891C>A (p.Asn2297Lys) c.6918C>A (p.Asn2306Lys) c.6942C>A (p.Asn2314Lys) c.6381C>A (p.Asn2127Lys) c.4460C>A c.2797C>A c.6855C>A (p.Asn2285Lys) n.579C>A c.6780C>A (p.Asn2260Lys) c.6840C>A (p.Asn2280Lys) n.809C>A n.612C>A c.6795C>A (p.Asn2265Lys) c.6954C>A (p.Asn2318Lys) c.6939C>A (p.Asn2313Lys) c.6894C>A (p.Asn2298Lys) c.6876C>A (p.Asn2292Lys) c.6873C>A (p.Asn2291Lys) c.6858C>A (p.Asn2286Lys) c.6831C>A (p.Asn2277Lys) c.6816C>A (p.Asn2272Lys) c.6837C>A (p.Asn2279Lys) c.6813C>A (p.Asn2271Lys) | |
9 | g.128632219C= | CA1880371250 | SPTAN1 | c.6891C= (p.Asn2297=) c.6918C= (p.Asn2306=) c.6942C= (p.Asn2314=) c.6381C= (p.Asn2127=) c.4460C= c.2797C= c.6855C= (p.Asn2285=) n.579C= c.6780C= (p.Asn2260=) c.6840C= (p.Asn2280=) n.809C= n.612C= c.6795C= (p.Asn2265=) c.6954C= (p.Asn2318=) c.6939C= (p.Asn2313=) c.6894C= (p.Asn2298=) c.6876C= (p.Asn2292=) c.6873C= (p.Asn2291=) c.6858C= (p.Asn2286=) c.6831C= (p.Asn2277=) c.6816C= (p.Asn2272=) c.6837C= (p.Asn2279=) c.6813C= (p.Asn2271=) | |
9 | g.128632219C>G | CA5265923 | SPTAN1 | c.6891C>G (p.Asn2297Lys) c.6918C>G (p.Asn2306Lys) c.6942C>G (p.Asn2314Lys) c.6381C>G (p.Asn2127Lys) c.4460C>G c.2797C>G c.6855C>G (p.Asn2285Lys) n.579C>G c.6780C>G (p.Asn2260Lys) c.6840C>G (p.Asn2280Lys) n.809C>G n.612C>G c.6795C>G (p.Asn2265Lys) c.6954C>G (p.Asn2318Lys) c.6939C>G (p.Asn2313Lys) c.6894C>G (p.Asn2298Lys) c.6876C>G (p.Asn2292Lys) c.6873C>G (p.Asn2291Lys) c.6858C>G (p.Asn2286Lys) c.6831C>G (p.Asn2277Lys) c.6816C>G (p.Asn2272Lys) c.6837C>G (p.Asn2279Lys) c.6813C>G (p.Asn2271Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632219C>T | CA467304830 | SPTAN1 | c.6891C>T (p.Asn2297=) c.6918C>T (p.Asn2306=) c.6942C>T (p.Asn2314=) c.6381C>T (p.Asn2127=) c.4460C>T c.2797C>T c.6855C>T (p.Asn2285=) n.579C>T c.6780C>T (p.Asn2260=) c.6840C>T (p.Asn2280=) n.809C>T n.612C>T c.6795C>T (p.Asn2265=) c.6954C>T (p.Asn2318=) c.6939C>T (p.Asn2313=) c.6894C>T (p.Asn2298=) c.6876C>T (p.Asn2292=) c.6873C>T (p.Asn2291=) c.6858C>T (p.Asn2286=) c.6831C>T (p.Asn2277=) c.6816C>T (p.Asn2272=) c.6837C>T (p.Asn2279=) c.6813C>T (p.Asn2271=) | |
9 | g.128632220A>C | CA375098071 | SPTAN1 | c.6892A>C (p.Lys2298Gln) c.6919A>C (p.Lys2307Gln) c.6943A>C (p.Lys2315Gln) c.6382A>C (p.Lys2128Gln) c.4461A>C c.2798A>C c.6856A>C (p.Lys2286Gln) n.580A>C c.6781A>C (p.Lys2261Gln) c.6841A>C (p.Lys2281Gln) n.810A>C n.613A>C c.6796A>C (p.Lys2266Gln) c.6955A>C (p.Lys2319Gln) c.6940A>C (p.Lys2314Gln) c.6895A>C (p.Lys2299Gln) c.6877A>C (p.Lys2293Gln) c.6874A>C (p.Lys2292Gln) c.6859A>C (p.Lys2287Gln) c.6832A>C (p.Lys2278Gln) c.6817A>C (p.Lys2273Gln) c.6838A>C (p.Lys2280Gln) c.6814A>C (p.Lys2272Gln) | |
9 | g.128632220A>G | CA375098076 | SPTAN1 | c.6892A>G (p.Lys2298Glu) c.6919A>G (p.Lys2307Glu) c.6943A>G (p.Lys2315Glu) c.6382A>G (p.Lys2128Glu) c.4461A>G c.2798A>G c.6856A>G (p.Lys2286Glu) n.580A>G c.6781A>G (p.Lys2261Glu) c.6841A>G (p.Lys2281Glu) n.810A>G n.613A>G c.6796A>G (p.Lys2266Glu) c.6955A>G (p.Lys2319Glu) c.6940A>G (p.Lys2314Glu) c.6895A>G (p.Lys2299Glu) c.6877A>G (p.Lys2293Glu) c.6874A>G (p.Lys2292Glu) c.6859A>G (p.Lys2287Glu) c.6832A>G (p.Lys2278Glu) c.6817A>G (p.Lys2273Glu) c.6838A>G (p.Lys2280Glu) c.6814A>G (p.Lys2272Glu) | gnomAD v4 |
9 | g.128632220A>T | CA375098080 | SPTAN1 | c.6892A>T (p.Lys2298Ter) c.6919A>T (p.Lys2307Ter) c.6943A>T (p.Lys2315Ter) c.6382A>T (p.Lys2128Ter) c.4461A>T c.2798A>T c.6856A>T (p.Lys2286Ter) n.580A>T c.6781A>T (p.Lys2261Ter) c.6841A>T (p.Lys2281Ter) n.810A>T n.613A>T c.6796A>T (p.Lys2266Ter) c.6955A>T (p.Lys2319Ter) c.6940A>T (p.Lys2314Ter) c.6895A>T (p.Lys2299Ter) c.6877A>T (p.Lys2293Ter) c.6874A>T (p.Lys2292Ter) c.6859A>T (p.Lys2287Ter) c.6832A>T (p.Lys2278Ter) c.6817A>T (p.Lys2273Ter) c.6838A>T (p.Lys2280Ter) c.6814A>T (p.Lys2272Ter) | |
9 | g.128632221A>C | CA375098085 | SPTAN1 | c.6893A>C (p.Lys2298Thr) c.6920A>C (p.Lys2307Thr) c.6944A>C (p.Lys2315Thr) c.6383A>C (p.Lys2128Thr) c.4462A>C c.2799A>C c.6857A>C (p.Lys2286Thr) n.581A>C c.6782A>C (p.Lys2261Thr) c.6842A>C (p.Lys2281Thr) n.811A>C n.614A>C c.6797A>C (p.Lys2266Thr) c.6956A>C (p.Lys2319Thr) c.6941A>C (p.Lys2314Thr) c.6896A>C (p.Lys2299Thr) c.6878A>C (p.Lys2293Thr) c.6875A>C (p.Lys2292Thr) c.6860A>C (p.Lys2287Thr) c.6833A>C (p.Lys2278Thr) c.6818A>C (p.Lys2273Thr) c.6839A>C (p.Lys2280Thr) c.6815A>C (p.Lys2272Thr) | |
9 | g.128632221A>G | CA375098086 | SPTAN1 | c.6893A>G (p.Lys2298Arg) c.6920A>G (p.Lys2307Arg) c.6944A>G (p.Lys2315Arg) c.6383A>G (p.Lys2128Arg) c.4462A>G c.2799A>G c.6857A>G (p.Lys2286Arg) n.581A>G c.6782A>G (p.Lys2261Arg) c.6842A>G (p.Lys2281Arg) n.811A>G n.614A>G c.6797A>G (p.Lys2266Arg) c.6956A>G (p.Lys2319Arg) c.6941A>G (p.Lys2314Arg) c.6896A>G (p.Lys2299Arg) c.6878A>G (p.Lys2293Arg) c.6875A>G (p.Lys2292Arg) c.6860A>G (p.Lys2287Arg) c.6833A>G (p.Lys2278Arg) c.6818A>G (p.Lys2273Arg) c.6839A>G (p.Lys2280Arg) c.6815A>G (p.Lys2272Arg) | gnomAD v4 |
9 | g.128632221A>T | CA375098088 | SPTAN1 | c.6893A>T (p.Lys2298Met) c.6920A>T (p.Lys2307Met) c.6944A>T (p.Lys2315Met) c.6383A>T (p.Lys2128Met) c.4462A>T c.2799A>T c.6857A>T (p.Lys2286Met) n.581A>T c.6782A>T (p.Lys2261Met) c.6842A>T (p.Lys2281Met) n.811A>T n.614A>T c.6797A>T (p.Lys2266Met) c.6956A>T (p.Lys2319Met) c.6941A>T (p.Lys2314Met) c.6896A>T (p.Lys2299Met) c.6878A>T (p.Lys2293Met) c.6875A>T (p.Lys2292Met) c.6860A>T (p.Lys2287Met) c.6833A>T (p.Lys2278Met) c.6818A>T (p.Lys2273Met) c.6839A>T (p.Lys2280Met) c.6815A>T (p.Lys2272Met) | |
9 | g.128632222G>A | CA5265924 | SPTAN1 | c.6894G>A (p.Lys2298=) c.6921G>A (p.Lys2307=) c.6945G>A (p.Lys2315=) c.6384G>A (p.Lys2128=) c.4463G>A c.2800G>A c.6858G>A (p.Lys2286=) n.582G>A c.6783G>A (p.Lys2261=) c.6843G>A (p.Lys2281=) n.812G>A n.615G>A c.6798G>A (p.Lys2266=) c.6957G>A (p.Lys2319=) c.6942G>A (p.Lys2314=) c.6897G>A (p.Lys2299=) c.6879G>A (p.Lys2293=) c.6876G>A (p.Lys2292=) c.6861G>A (p.Lys2287=) c.6834G>A (p.Lys2278=) c.6819G>A (p.Lys2273=) c.6840G>A (p.Lys2280=) c.6816G>A (p.Lys2272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632222G>C | CA375098100 | SPTAN1 | c.6894G>C (p.Lys2298Asn) c.6921G>C (p.Lys2307Asn) c.6945G>C (p.Lys2315Asn) c.6384G>C (p.Lys2128Asn) c.4463G>C c.2800G>C c.6858G>C (p.Lys2286Asn) n.582G>C c.6783G>C (p.Lys2261Asn) c.6843G>C (p.Lys2281Asn) n.812G>C n.615G>C c.6798G>C (p.Lys2266Asn) c.6957G>C (p.Lys2319Asn) c.6942G>C (p.Lys2314Asn) c.6897G>C (p.Lys2299Asn) c.6879G>C (p.Lys2293Asn) c.6876G>C (p.Lys2292Asn) c.6861G>C (p.Lys2287Asn) c.6834G>C (p.Lys2278Asn) c.6819G>C (p.Lys2273Asn) c.6840G>C (p.Lys2280Asn) c.6816G>C (p.Lys2272Asn) | gnomAD v4 |
9 | g.128632222G= | CA1880371251 | SPTAN1 | c.6894G= (p.Lys2298=) c.6921G= (p.Lys2307=) c.6945G= (p.Lys2315=) c.6384G= (p.Lys2128=) c.4463G= c.2800G= c.6858G= (p.Lys2286=) n.582G= c.6783G= (p.Lys2261=) c.6843G= (p.Lys2281=) n.812G= n.615G= c.6798G= (p.Lys2266=) c.6957G= (p.Lys2319=) c.6942G= (p.Lys2314=) c.6897G= (p.Lys2299=) c.6879G= (p.Lys2293=) c.6876G= (p.Lys2292=) c.6861G= (p.Lys2287=) c.6834G= (p.Lys2278=) c.6819G= (p.Lys2273=) c.6840G= (p.Lys2280=) c.6816G= (p.Lys2272=) | |
9 | g.128632222G>T | CA375098092 | SPTAN1 | c.6894G>T (p.Lys2298Asn) c.6921G>T (p.Lys2307Asn) c.6945G>T (p.Lys2315Asn) c.6384G>T (p.Lys2128Asn) c.4463G>T c.2800G>T c.6858G>T (p.Lys2286Asn) n.582G>T c.6783G>T (p.Lys2261Asn) c.6843G>T (p.Lys2281Asn) n.812G>T n.615G>T c.6798G>T (p.Lys2266Asn) c.6957G>T (p.Lys2319Asn) c.6942G>T (p.Lys2314Asn) c.6897G>T (p.Lys2299Asn) c.6879G>T (p.Lys2293Asn) c.6876G>T (p.Lys2292Asn) c.6861G>T (p.Lys2287Asn) c.6834G>T (p.Lys2278Asn) c.6819G>T (p.Lys2273Asn) c.6840G>T (p.Lys2280Asn) c.6816G>T (p.Lys2272Asn) | |
9 | g.128632223T>A | CA375098117 | SPTAN1 | c.6895T>A (p.Tyr2299Asn) c.6922T>A (p.Tyr2308Asn) c.6946T>A (p.Tyr2316Asn) c.6385T>A (p.Tyr2129Asn) c.4464T>A c.2801T>A c.6859T>A (p.Tyr2287Asn) n.583T>A c.6784T>A (p.Tyr2262Asn) c.6844T>A (p.Tyr2282Asn) n.813T>A n.616T>A c.6799T>A (p.Tyr2267Asn) c.6958T>A (p.Tyr2320Asn) c.6943T>A (p.Tyr2315Asn) c.6898T>A (p.Tyr2300Asn) c.6880T>A (p.Tyr2294Asn) c.6877T>A (p.Tyr2293Asn) c.6862T>A (p.Tyr2288Asn) c.6835T>A (p.Tyr2279Asn) c.6820T>A (p.Tyr2274Asn) c.6841T>A (p.Tyr2281Asn) c.6817T>A (p.Tyr2273Asn) | |
9 | g.128632223T>C | CA375098106 | SPTAN1 | c.6895T>C (p.Tyr2299His) c.6922T>C (p.Tyr2308His) c.6946T>C (p.Tyr2316His) c.6385T>C (p.Tyr2129His) c.4464T>C c.2801T>C c.6859T>C (p.Tyr2287His) n.583T>C c.6784T>C (p.Tyr2262His) c.6844T>C (p.Tyr2282His) n.813T>C n.616T>C c.6799T>C (p.Tyr2267His) c.6958T>C (p.Tyr2320His) c.6943T>C (p.Tyr2315His) c.6898T>C (p.Tyr2300His) c.6880T>C (p.Tyr2294His) c.6877T>C (p.Tyr2293His) c.6862T>C (p.Tyr2288His) c.6835T>C (p.Tyr2279His) c.6820T>C (p.Tyr2274His) c.6841T>C (p.Tyr2281His) c.6817T>C (p.Tyr2273His) | gnomAD v4 |
9 | g.128632223T>G | CA375098110 | SPTAN1 | c.6895T>G (p.Tyr2299Asp) c.6922T>G (p.Tyr2308Asp) c.6946T>G (p.Tyr2316Asp) c.6385T>G (p.Tyr2129Asp) c.4464T>G c.2801T>G c.6859T>G (p.Tyr2287Asp) n.583T>G c.6784T>G (p.Tyr2262Asp) c.6844T>G (p.Tyr2282Asp) n.813T>G n.616T>G c.6799T>G (p.Tyr2267Asp) c.6958T>G (p.Tyr2320Asp) c.6943T>G (p.Tyr2315Asp) c.6898T>G (p.Tyr2300Asp) c.6880T>G (p.Tyr2294Asp) c.6877T>G (p.Tyr2293Asp) c.6862T>G (p.Tyr2288Asp) c.6835T>G (p.Tyr2279Asp) c.6820T>G (p.Tyr2274Asp) c.6841T>G (p.Tyr2281Asp) c.6817T>G (p.Tyr2273Asp) | |
9 | g.128632224A>C | CA375098121 | SPTAN1 | c.6896A>C (p.Tyr2299Ser) c.6923A>C (p.Tyr2308Ser) c.6947A>C (p.Tyr2316Ser) c.6386A>C (p.Tyr2129Ser) c.4465A>C c.2802A>C c.6860A>C (p.Tyr2287Ser) n.584A>C c.6785A>C (p.Tyr2262Ser) c.6845A>C (p.Tyr2282Ser) n.814A>C n.617A>C c.6800A>C (p.Tyr2267Ser) c.6959A>C (p.Tyr2320Ser) c.6944A>C (p.Tyr2315Ser) c.6899A>C (p.Tyr2300Ser) c.6881A>C (p.Tyr2294Ser) c.6878A>C (p.Tyr2293Ser) c.6863A>C (p.Tyr2288Ser) c.6836A>C (p.Tyr2279Ser) c.6821A>C (p.Tyr2274Ser) c.6842A>C (p.Tyr2281Ser) c.6818A>C (p.Tyr2273Ser) | gnomAD v4 |
9 | g.128632224A>G | CA375098130 | SPTAN1 | c.6896A>G (p.Tyr2299Cys) c.6923A>G (p.Tyr2308Cys) c.6947A>G (p.Tyr2316Cys) c.6386A>G (p.Tyr2129Cys) c.4465A>G c.2802A>G c.6860A>G (p.Tyr2287Cys) n.584A>G c.6785A>G (p.Tyr2262Cys) c.6845A>G (p.Tyr2282Cys) n.814A>G n.617A>G c.6800A>G (p.Tyr2267Cys) c.6959A>G (p.Tyr2320Cys) c.6944A>G (p.Tyr2315Cys) c.6899A>G (p.Tyr2300Cys) c.6881A>G (p.Tyr2294Cys) c.6878A>G (p.Tyr2293Cys) c.6863A>G (p.Tyr2288Cys) c.6836A>G (p.Tyr2279Cys) c.6821A>G (p.Tyr2274Cys) c.6842A>G (p.Tyr2281Cys) c.6818A>G (p.Tyr2273Cys) | gnomAD v4 |
9 | g.128632224A>T | CA375098134 | SPTAN1 | c.6896A>T (p.Tyr2299Phe) c.6923A>T (p.Tyr2308Phe) c.6947A>T (p.Tyr2316Phe) c.6386A>T (p.Tyr2129Phe) c.4465A>T c.2802A>T c.6860A>T (p.Tyr2287Phe) n.584A>T c.6785A>T (p.Tyr2262Phe) c.6845A>T (p.Tyr2282Phe) n.814A>T n.617A>T c.6800A>T (p.Tyr2267Phe) c.6959A>T (p.Tyr2320Phe) c.6944A>T (p.Tyr2315Phe) c.6899A>T (p.Tyr2300Phe) c.6881A>T (p.Tyr2294Phe) c.6878A>T (p.Tyr2293Phe) c.6863A>T (p.Tyr2288Phe) c.6836A>T (p.Tyr2279Phe) c.6821A>T (p.Tyr2274Phe) c.6842A>T (p.Tyr2281Phe) c.6818A>T (p.Tyr2273Phe) | |
9 | g.128632225C>A | CA375098149 | SPTAN1 | c.6897C>A (p.Tyr2299Ter) c.6924C>A (p.Tyr2308Ter) c.6948C>A (p.Tyr2316Ter) c.6387C>A (p.Tyr2129Ter) c.4466C>A c.2803C>A c.6861C>A (p.Tyr2287Ter) n.585C>A c.6786C>A (p.Tyr2262Ter) c.6846C>A (p.Tyr2282Ter) n.815C>A n.618C>A c.6801C>A (p.Tyr2267Ter) c.6960C>A (p.Tyr2320Ter) c.6945C>A (p.Tyr2315Ter) c.6900C>A (p.Tyr2300Ter) c.6882C>A (p.Tyr2294Ter) c.6879C>A (p.Tyr2293Ter) c.6864C>A (p.Tyr2288Ter) c.6837C>A (p.Tyr2279Ter) c.6822C>A (p.Tyr2274Ter) c.6843C>A (p.Tyr2281Ter) c.6819C>A (p.Tyr2273Ter) | |
9 | g.128632225C>G | CA375098155 | SPTAN1 | c.6897C>G (p.Tyr2299Ter) c.6924C>G (p.Tyr2308Ter) c.6948C>G (p.Tyr2316Ter) c.6387C>G (p.Tyr2129Ter) c.4466C>G c.2803C>G c.6861C>G (p.Tyr2287Ter) n.585C>G c.6786C>G (p.Tyr2262Ter) c.6846C>G (p.Tyr2282Ter) n.815C>G n.618C>G c.6801C>G (p.Tyr2267Ter) c.6960C>G (p.Tyr2320Ter) c.6945C>G (p.Tyr2315Ter) c.6900C>G (p.Tyr2300Ter) c.6882C>G (p.Tyr2294Ter) c.6879C>G (p.Tyr2293Ter) c.6864C>G (p.Tyr2288Ter) c.6837C>G (p.Tyr2279Ter) c.6822C>G (p.Tyr2274Ter) c.6843C>G (p.Tyr2281Ter) c.6819C>G (p.Tyr2273Ter) | |
9 | g.128632225C>T | CA467304831 | SPTAN1 | c.6897C>T (p.Tyr2299=) c.6924C>T (p.Tyr2308=) c.6948C>T (p.Tyr2316=) c.6387C>T (p.Tyr2129=) c.4466C>T c.2803C>T c.6861C>T (p.Tyr2287=) n.585C>T c.6786C>T (p.Tyr2262=) c.6846C>T (p.Tyr2282=) n.815C>T n.618C>T c.6801C>T (p.Tyr2267=) c.6960C>T (p.Tyr2320=) c.6945C>T (p.Tyr2315=) c.6900C>T (p.Tyr2300=) c.6882C>T (p.Tyr2294=) c.6879C>T (p.Tyr2293=) c.6864C>T (p.Tyr2288=) c.6837C>T (p.Tyr2279=) c.6822C>T (p.Tyr2274=) c.6843C>T (p.Tyr2281=) c.6819C>T (p.Tyr2273=) | |
9 | g.128632226A>C | CA375098161 | SPTAN1 | c.6898A>C (p.Thr2300Pro) c.6925A>C (p.Thr2309Pro) c.6949A>C (p.Thr2317Pro) c.6388A>C (p.Thr2130Pro) c.4467A>C c.2804A>C c.6862A>C (p.Thr2288Pro) n.586A>C c.6787A>C (p.Thr2263Pro) c.6847A>C (p.Thr2283Pro) n.816A>C n.619A>C c.6802A>C (p.Thr2268Pro) c.6961A>C (p.Thr2321Pro) c.6946A>C (p.Thr2316Pro) c.6901A>C (p.Thr2301Pro) c.6883A>C (p.Thr2295Pro) c.6880A>C (p.Thr2294Pro) c.6865A>C (p.Thr2289Pro) c.6838A>C (p.Thr2280Pro) c.6823A>C (p.Thr2275Pro) c.6844A>C (p.Thr2282Pro) c.6820A>C (p.Thr2274Pro) | |
9 | g.128632226A>G | CA375098174 | SPTAN1 | c.6898A>G (p.Thr2300Ala) c.6925A>G (p.Thr2309Ala) c.6949A>G (p.Thr2317Ala) c.6388A>G (p.Thr2130Ala) c.4467A>G c.2804A>G c.6862A>G (p.Thr2288Ala) n.586A>G c.6787A>G (p.Thr2263Ala) c.6847A>G (p.Thr2283Ala) n.816A>G n.619A>G c.6802A>G (p.Thr2268Ala) c.6961A>G (p.Thr2321Ala) c.6946A>G (p.Thr2316Ala) c.6901A>G (p.Thr2301Ala) c.6883A>G (p.Thr2295Ala) c.6880A>G (p.Thr2294Ala) c.6865A>G (p.Thr2289Ala) c.6838A>G (p.Thr2280Ala) c.6823A>G (p.Thr2275Ala) c.6844A>G (p.Thr2282Ala) c.6820A>G (p.Thr2274Ala) | |
9 | g.128632226A>T | CA375098166 | SPTAN1 | c.6898A>T (p.Thr2300Ser) c.6925A>T (p.Thr2309Ser) c.6949A>T (p.Thr2317Ser) c.6388A>T (p.Thr2130Ser) c.4467A>T c.2804A>T c.6862A>T (p.Thr2288Ser) n.586A>T c.6787A>T (p.Thr2263Ser) c.6847A>T (p.Thr2283Ser) n.816A>T n.619A>T c.6802A>T (p.Thr2268Ser) c.6961A>T (p.Thr2321Ser) c.6946A>T (p.Thr2316Ser) c.6901A>T (p.Thr2301Ser) c.6883A>T (p.Thr2295Ser) c.6880A>T (p.Thr2294Ser) c.6865A>T (p.Thr2289Ser) c.6838A>T (p.Thr2280Ser) c.6823A>T (p.Thr2275Ser) c.6844A>T (p.Thr2282Ser) c.6820A>T (p.Thr2274Ser) | |
9 | g.128632227C>A | CA375098178 | SPTAN1 | c.6899C>A (p.Thr2300Lys) c.6926C>A (p.Thr2309Lys) c.6950C>A (p.Thr2317Lys) c.6389C>A (p.Thr2130Lys) c.4468C>A c.2805C>A c.6863C>A (p.Thr2288Lys) n.587C>A c.6788C>A (p.Thr2263Lys) c.6848C>A (p.Thr2283Lys) n.817C>A n.620C>A c.6803C>A (p.Thr2268Lys) c.6962C>A (p.Thr2321Lys) c.6947C>A (p.Thr2316Lys) c.6902C>A (p.Thr2301Lys) c.6884C>A (p.Thr2295Lys) c.6881C>A (p.Thr2294Lys) c.6866C>A (p.Thr2289Lys) c.6839C>A (p.Thr2280Lys) c.6824C>A (p.Thr2275Lys) c.6845C>A (p.Thr2282Lys) c.6821C>A (p.Thr2274Lys) | |
9 | g.128632227C>G | CA375098179 | SPTAN1 | c.6899C>G (p.Thr2300Arg) c.6926C>G (p.Thr2309Arg) c.6950C>G (p.Thr2317Arg) c.6389C>G (p.Thr2130Arg) c.4468C>G c.2805C>G c.6863C>G (p.Thr2288Arg) n.587C>G c.6788C>G (p.Thr2263Arg) c.6848C>G (p.Thr2283Arg) n.817C>G n.620C>G c.6803C>G (p.Thr2268Arg) c.6962C>G (p.Thr2321Arg) c.6947C>G (p.Thr2316Arg) c.6902C>G (p.Thr2301Arg) c.6884C>G (p.Thr2295Arg) c.6881C>G (p.Thr2294Arg) c.6866C>G (p.Thr2289Arg) c.6839C>G (p.Thr2280Arg) c.6824C>G (p.Thr2275Arg) c.6845C>G (p.Thr2282Arg) c.6821C>G (p.Thr2274Arg) | |
9 | g.128632227C>T | CA375098180 | SPTAN1 | c.6899C>T (p.Thr2300Met) c.6926C>T (p.Thr2309Met) c.6950C>T (p.Thr2317Met) c.6389C>T (p.Thr2130Met) c.4468C>T c.2805C>T c.6863C>T (p.Thr2288Met) n.587C>T c.6788C>T (p.Thr2263Met) c.6848C>T (p.Thr2283Met) n.817C>T n.620C>T c.6803C>T (p.Thr2268Met) c.6962C>T (p.Thr2321Met) c.6947C>T (p.Thr2316Met) c.6902C>T (p.Thr2301Met) c.6884C>T (p.Thr2295Met) c.6881C>T (p.Thr2294Met) c.6866C>T (p.Thr2289Met) c.6839C>T (p.Thr2280Met) c.6824C>T (p.Thr2275Met) c.6845C>T (p.Thr2282Met) c.6821C>T (p.Thr2274Met) | ClinVar dbSNP |
9 | g.128632228G>A | CA5265925 | SPTAN1 | c.6900G>A (p.Thr2300=) c.6927G>A (p.Thr2309=) c.6951G>A (p.Thr2317=) c.6390G>A (p.Thr2130=) c.4469G>A c.2806G>A c.6864G>A (p.Thr2288=) n.588G>A c.6789G>A (p.Thr2263=) c.6849G>A (p.Thr2283=) n.818G>A n.621G>A c.6804G>A (p.Thr2268=) c.6963G>A (p.Thr2321=) c.6948G>A (p.Thr2316=) c.6903G>A (p.Thr2301=) c.6885G>A (p.Thr2295=) c.6882G>A (p.Thr2294=) c.6867G>A (p.Thr2289=) c.6840G>A (p.Thr2280=) c.6825G>A (p.Thr2275=) c.6846G>A (p.Thr2282=) c.6822G>A (p.Thr2274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632228G>C | CA467304832 | SPTAN1 | c.6900G>C (p.Thr2300=) c.6927G>C (p.Thr2309=) c.6951G>C (p.Thr2317=) c.6390G>C (p.Thr2130=) c.4469G>C c.2806G>C c.6864G>C (p.Thr2288=) n.588G>C c.6789G>C (p.Thr2263=) c.6849G>C (p.Thr2283=) n.818G>C n.621G>C c.6804G>C (p.Thr2268=) c.6963G>C (p.Thr2321=) c.6948G>C (p.Thr2316=) c.6903G>C (p.Thr2301=) c.6885G>C (p.Thr2295=) c.6882G>C (p.Thr2294=) c.6867G>C (p.Thr2289=) c.6840G>C (p.Thr2280=) c.6825G>C (p.Thr2275=) c.6846G>C (p.Thr2282=) c.6822G>C (p.Thr2274=) | |
9 | g.128632228G= | CA1880371252 | SPTAN1 | c.6900G= (p.Thr2300=) c.6927G= (p.Thr2309=) c.6951G= (p.Thr2317=) c.6390G= (p.Thr2130=) c.4469G= c.2806G= c.6864G= (p.Thr2288=) n.588G= c.6789G= (p.Thr2263=) c.6849G= (p.Thr2283=) n.818G= n.621G= c.6804G= (p.Thr2268=) c.6963G= (p.Thr2321=) c.6948G= (p.Thr2316=) c.6903G= (p.Thr2301=) c.6885G= (p.Thr2295=) c.6882G= (p.Thr2294=) c.6867G= (p.Thr2289=) c.6840G= (p.Thr2280=) c.6825G= (p.Thr2275=) c.6846G= (p.Thr2282=) c.6822G= (p.Thr2274=) | |
9 | g.128632228G>T | CA467304833 | SPTAN1 | c.6900G>T (p.Thr2300=) c.6927G>T (p.Thr2309=) c.6951G>T (p.Thr2317=) c.6390G>T (p.Thr2130=) c.4469G>T c.2806G>T c.6864G>T (p.Thr2288=) n.588G>T c.6789G>T (p.Thr2263=) c.6849G>T (p.Thr2283=) n.818G>T n.621G>T c.6804G>T (p.Thr2268=) c.6963G>T (p.Thr2321=) c.6948G>T (p.Thr2316=) c.6903G>T (p.Thr2301=) c.6885G>T (p.Thr2295=) c.6882G>T (p.Thr2294=) c.6867G>T (p.Thr2289=) c.6840G>T (p.Thr2280=) c.6825G>T (p.Thr2275=) c.6846G>T (p.Thr2282=) c.6822G>T (p.Thr2274=) | dbSNP |
9 | g.128632229G>A | CA375098185 | SPTAN1 | c.6901G>A (p.Glu2301Lys) c.6928G>A (p.Glu2310Lys) c.6952G>A (p.Glu2318Lys) c.6391G>A (p.Glu2131Lys) c.4470G>A c.2807G>A c.6865G>A (p.Glu2289Lys) n.589G>A c.6790G>A (p.Glu2264Lys) c.6850G>A (p.Glu2284Lys) n.819G>A n.622G>A c.6805G>A (p.Glu2269Lys) c.6964G>A (p.Glu2322Lys) c.6949G>A (p.Glu2317Lys) c.6904G>A (p.Glu2302Lys) c.6886G>A (p.Glu2296Lys) c.6883G>A (p.Glu2295Lys) c.6868G>A (p.Glu2290Lys) c.6841G>A (p.Glu2281Lys) c.6826G>A (p.Glu2276Lys) c.6847G>A (p.Glu2283Lys) c.6823G>A (p.Glu2275Lys) | COSMIC |
9 | g.128632229G>C | CA375098213 | SPTAN1 | c.6901G>C (p.Glu2301Gln) c.6928G>C (p.Glu2310Gln) c.6952G>C (p.Glu2318Gln) c.6391G>C (p.Glu2131Gln) c.4470G>C c.2807G>C c.6865G>C (p.Glu2289Gln) n.589G>C c.6790G>C (p.Glu2264Gln) c.6850G>C (p.Glu2284Gln) n.819G>C n.622G>C c.6805G>C (p.Glu2269Gln) c.6964G>C (p.Glu2322Gln) c.6949G>C (p.Glu2317Gln) c.6904G>C (p.Glu2302Gln) c.6886G>C (p.Glu2296Gln) c.6883G>C (p.Glu2295Gln) c.6868G>C (p.Glu2290Gln) c.6841G>C (p.Glu2281Gln) c.6826G>C (p.Glu2276Gln) c.6847G>C (p.Glu2283Gln) c.6823G>C (p.Glu2275Gln) | |
9 | g.128632229G>T | CA375098208 | SPTAN1 | c.6901G>T (p.Glu2301Ter) c.6928G>T (p.Glu2310Ter) c.6952G>T (p.Glu2318Ter) c.6391G>T (p.Glu2131Ter) c.4470G>T c.2807G>T c.6865G>T (p.Glu2289Ter) n.589G>T c.6790G>T (p.Glu2264Ter) c.6850G>T (p.Glu2284Ter) n.819G>T n.622G>T c.6805G>T (p.Glu2269Ter) c.6964G>T (p.Glu2322Ter) c.6949G>T (p.Glu2317Ter) c.6904G>T (p.Glu2302Ter) c.6886G>T (p.Glu2296Ter) c.6883G>T (p.Glu2295Ter) c.6868G>T (p.Glu2290Ter) c.6841G>T (p.Glu2281Ter) c.6826G>T (p.Glu2276Ter) c.6847G>T (p.Glu2283Ter) c.6823G>T (p.Glu2275Ter) | |
9 | g.128632230A>C | CA375098217 | SPTAN1 | c.6902A>C (p.Glu2301Ala) c.6929A>C (p.Glu2310Ala) c.6953A>C (p.Glu2318Ala) c.6392A>C (p.Glu2131Ala) c.4471A>C c.2808A>C c.6866A>C (p.Glu2289Ala) n.590A>C c.6791A>C (p.Glu2264Ala) c.6851A>C (p.Glu2284Ala) n.820A>C n.623A>C c.6806A>C (p.Glu2269Ala) c.6965A>C (p.Glu2322Ala) c.6950A>C (p.Glu2317Ala) c.6905A>C (p.Glu2302Ala) c.6887A>C (p.Glu2296Ala) c.6884A>C (p.Glu2295Ala) c.6869A>C (p.Glu2290Ala) c.6842A>C (p.Glu2281Ala) c.6827A>C (p.Glu2276Ala) c.6848A>C (p.Glu2283Ala) c.6824A>C (p.Glu2275Ala) | |
9 | g.128632230A>G | CA375098218 | SPTAN1 | c.6902A>G (p.Glu2301Gly) c.6929A>G (p.Glu2310Gly) c.6953A>G (p.Glu2318Gly) c.6392A>G (p.Glu2131Gly) c.4471A>G c.2808A>G c.6866A>G (p.Glu2289Gly) n.590A>G c.6791A>G (p.Glu2264Gly) c.6851A>G (p.Glu2284Gly) n.820A>G n.623A>G c.6806A>G (p.Glu2269Gly) c.6965A>G (p.Glu2322Gly) c.6950A>G (p.Glu2317Gly) c.6905A>G (p.Glu2302Gly) c.6887A>G (p.Glu2296Gly) c.6884A>G (p.Glu2295Gly) c.6869A>G (p.Glu2290Gly) c.6842A>G (p.Glu2281Gly) c.6827A>G (p.Glu2276Gly) c.6848A>G (p.Glu2283Gly) c.6824A>G (p.Glu2275Gly) | |
9 | g.128632230A>T | CA375098219 | SPTAN1 | c.6902A>T (p.Glu2301Val) c.6929A>T (p.Glu2310Val) c.6953A>T (p.Glu2318Val) c.6392A>T (p.Glu2131Val) c.4471A>T c.2808A>T c.6866A>T (p.Glu2289Val) n.590A>T c.6791A>T (p.Glu2264Val) c.6851A>T (p.Glu2284Val) n.820A>T n.623A>T c.6806A>T (p.Glu2269Val) c.6965A>T (p.Glu2322Val) c.6950A>T (p.Glu2317Val) c.6905A>T (p.Glu2302Val) c.6887A>T (p.Glu2296Val) c.6884A>T (p.Glu2295Val) c.6869A>T (p.Glu2290Val) c.6842A>T (p.Glu2281Val) c.6827A>T (p.Glu2276Val) c.6848A>T (p.Glu2283Val) c.6824A>T (p.Glu2275Val) | |
9 | g.128632231G>A | CA200412390 | SPTAN1 | c.6903G>A (p.Glu2301=) c.6930G>A (p.Glu2310=) c.6954G>A (p.Glu2318=) c.6393G>A (p.Glu2131=) c.4472G>A c.2809G>A c.6867G>A (p.Glu2289=) n.591G>A c.6792G>A (p.Glu2264=) c.6852G>A (p.Glu2284=) n.821G>A n.624G>A c.6807G>A (p.Glu2269=) c.6966G>A (p.Glu2322=) c.6951G>A (p.Glu2317=) c.6906G>A (p.Glu2302=) c.6888G>A (p.Glu2296=) c.6885G>A (p.Glu2295=) c.6870G>A (p.Glu2290=) c.6843G>A (p.Glu2281=) c.6828G>A (p.Glu2276=) c.6849G>A (p.Glu2283=) c.6825G>A (p.Glu2275=) | ClinVar dbSNP gnomAD v4 |
9 | g.128632231G>C | CA375098226 | SPTAN1 | c.6903G>C (p.Glu2301Asp) c.6930G>C (p.Glu2310Asp) c.6954G>C (p.Glu2318Asp) c.6393G>C (p.Glu2131Asp) c.4472G>C c.2809G>C c.6867G>C (p.Glu2289Asp) n.591G>C c.6792G>C (p.Glu2264Asp) c.6852G>C (p.Glu2284Asp) n.821G>C n.624G>C c.6807G>C (p.Glu2269Asp) c.6966G>C (p.Glu2322Asp) c.6951G>C (p.Glu2317Asp) c.6906G>C (p.Glu2302Asp) c.6888G>C (p.Glu2296Asp) c.6885G>C (p.Glu2295Asp) c.6870G>C (p.Glu2290Asp) c.6843G>C (p.Glu2281Asp) c.6828G>C (p.Glu2276Asp) c.6849G>C (p.Glu2283Asp) c.6825G>C (p.Glu2275Asp) | |
9 | g.128632231G= | CA1880371253 | SPTAN1 | c.6903G= (p.Glu2301=) c.6930G= (p.Glu2310=) c.6954G= (p.Glu2318=) c.6393G= (p.Glu2131=) c.4472G= c.2809G= c.6867G= (p.Glu2289=) n.591G= c.6792G= (p.Glu2264=) c.6852G= (p.Glu2284=) n.821G= n.624G= c.6807G= (p.Glu2269=) c.6966G= (p.Glu2322=) c.6951G= (p.Glu2317=) c.6906G= (p.Glu2302=) c.6888G= (p.Glu2296=) c.6885G= (p.Glu2295=) c.6870G= (p.Glu2290=) c.6843G= (p.Glu2281=) c.6828G= (p.Glu2276=) c.6849G= (p.Glu2283=) c.6825G= (p.Glu2275=) | |
9 | g.128632231G>T | CA375098231 | SPTAN1 | c.6903G>T (p.Glu2301Asp) c.6930G>T (p.Glu2310Asp) c.6954G>T (p.Glu2318Asp) c.6393G>T (p.Glu2131Asp) c.4472G>T c.2809G>T c.6867G>T (p.Glu2289Asp) n.591G>T c.6792G>T (p.Glu2264Asp) c.6852G>T (p.Glu2284Asp) n.821G>T n.624G>T c.6807G>T (p.Glu2269Asp) c.6966G>T (p.Glu2322Asp) c.6951G>T (p.Glu2317Asp) c.6906G>T (p.Glu2302Asp) c.6888G>T (p.Glu2296Asp) c.6885G>T (p.Glu2295Asp) c.6870G>T (p.Glu2290Asp) c.6843G>T (p.Glu2281Asp) c.6828G>T (p.Glu2276Asp) c.6849G>T (p.Glu2283Asp) c.6825G>T (p.Glu2275Asp) | |
9 | g.128632232C>A | CA375098251 | SPTAN1 | c.6904C>A (p.His2302Asn) c.6931C>A (p.His2311Asn) c.6955C>A (p.His2319Asn) c.6394C>A (p.His2132Asn) c.4473C>A c.2810C>A c.6868C>A (p.His2290Asn) n.592C>A c.6793C>A (p.His2265Asn) c.6853C>A (p.His2285Asn) n.822C>A n.625C>A c.6808C>A (p.His2270Asn) c.6967C>A (p.His2323Asn) c.6952C>A (p.His2318Asn) c.6907C>A (p.His2303Asn) c.6889C>A (p.His2297Asn) c.6886C>A (p.His2296Asn) c.6871C>A (p.His2291Asn) c.6844C>A (p.His2282Asn) c.6829C>A (p.His2277Asn) c.6850C>A (p.His2284Asn) c.6826C>A (p.His2276Asn) | |
9 | g.128632232C>G | CA375098257 | SPTAN1 | c.6904C>G (p.His2302Asp) c.6931C>G (p.His2311Asp) c.6955C>G (p.His2319Asp) c.6394C>G (p.His2132Asp) c.4473C>G c.2810C>G c.6868C>G (p.His2290Asp) n.592C>G c.6793C>G (p.His2265Asp) c.6853C>G (p.His2285Asp) n.822C>G n.625C>G c.6808C>G (p.His2270Asp) c.6967C>G (p.His2323Asp) c.6952C>G (p.His2318Asp) c.6907C>G (p.His2303Asp) c.6889C>G (p.His2297Asp) c.6886C>G (p.His2296Asp) c.6871C>G (p.His2291Asp) c.6844C>G (p.His2282Asp) c.6829C>G (p.His2277Asp) c.6850C>G (p.His2284Asp) c.6826C>G (p.His2276Asp) | |
9 | g.128632232C>T | CA375098261 | SPTAN1 | c.6904C>T (p.His2302Tyr) c.6931C>T (p.His2311Tyr) c.6955C>T (p.His2319Tyr) c.6394C>T (p.His2132Tyr) c.4473C>T c.2810C>T c.6868C>T (p.His2290Tyr) n.592C>T c.6793C>T (p.His2265Tyr) c.6853C>T (p.His2285Tyr) n.822C>T n.625C>T c.6808C>T (p.His2270Tyr) c.6967C>T (p.His2323Tyr) c.6952C>T (p.His2318Tyr) c.6907C>T (p.His2303Tyr) c.6889C>T (p.His2297Tyr) c.6886C>T (p.His2296Tyr) c.6871C>T (p.His2291Tyr) c.6844C>T (p.His2282Tyr) c.6829C>T (p.His2277Tyr) c.6850C>T (p.His2284Tyr) c.6826C>T (p.His2276Tyr) | gnomAD v4 COSMIC COSMIC |
9 | g.128632233A>C | CA375098262 | SPTAN1 | c.6905A>C (p.His2302Pro) c.6932A>C (p.His2311Pro) c.6956A>C (p.His2319Pro) c.6395A>C (p.His2132Pro) c.4474A>C c.2811A>C c.6869A>C (p.His2290Pro) n.593A>C c.6794A>C (p.His2265Pro) c.6854A>C (p.His2285Pro) n.823A>C n.626A>C c.6809A>C (p.His2270Pro) c.6968A>C (p.His2323Pro) c.6953A>C (p.His2318Pro) c.6908A>C (p.His2303Pro) c.6890A>C (p.His2297Pro) c.6887A>C (p.His2296Pro) c.6872A>C (p.His2291Pro) c.6845A>C (p.His2282Pro) c.6830A>C (p.His2277Pro) c.6851A>C (p.His2284Pro) c.6827A>C (p.His2276Pro) | |
9 | g.128632233A>G | CA375098263 | SPTAN1 | c.6905A>G (p.His2302Arg) c.6932A>G (p.His2311Arg) c.6956A>G (p.His2319Arg) c.6395A>G (p.His2132Arg) c.4474A>G c.2811A>G c.6869A>G (p.His2290Arg) n.593A>G c.6794A>G (p.His2265Arg) c.6854A>G (p.His2285Arg) n.823A>G n.626A>G c.6809A>G (p.His2270Arg) c.6968A>G (p.His2323Arg) c.6953A>G (p.His2318Arg) c.6908A>G (p.His2303Arg) c.6890A>G (p.His2297Arg) c.6887A>G (p.His2296Arg) c.6872A>G (p.His2291Arg) c.6845A>G (p.His2282Arg) c.6830A>G (p.His2277Arg) c.6851A>G (p.His2284Arg) c.6827A>G (p.His2276Arg) | ClinVar dbSNP |
9 | g.128632233A>T | CA375098266 | SPTAN1 | c.6905A>T (p.His2302Leu) c.6932A>T (p.His2311Leu) c.6956A>T (p.His2319Leu) c.6395A>T (p.His2132Leu) c.4474A>T c.2811A>T c.6869A>T (p.His2290Leu) n.593A>T c.6794A>T (p.His2265Leu) c.6854A>T (p.His2285Leu) n.823A>T n.626A>T c.6809A>T (p.His2270Leu) c.6968A>T (p.His2323Leu) c.6953A>T (p.His2318Leu) c.6908A>T (p.His2303Leu) c.6890A>T (p.His2297Leu) c.6887A>T (p.His2296Leu) c.6872A>T (p.His2291Leu) c.6845A>T (p.His2282Leu) c.6830A>T (p.His2277Leu) c.6851A>T (p.His2284Leu) c.6827A>T (p.His2276Leu) | |
9 | g.128632234C>A | CA375098277 | SPTAN1 | c.6906C>A (p.His2302Gln) c.6933C>A (p.His2311Gln) c.6957C>A (p.His2319Gln) c.6396C>A (p.His2132Gln) c.4475C>A c.2812C>A c.6870C>A (p.His2290Gln) n.594C>A c.6795C>A (p.His2265Gln) c.6855C>A (p.His2285Gln) n.824C>A n.627C>A c.6810C>A (p.His2270Gln) c.6969C>A (p.His2323Gln) c.6954C>A (p.His2318Gln) c.6909C>A (p.His2303Gln) c.6891C>A (p.His2297Gln) c.6888C>A (p.His2296Gln) c.6873C>A (p.His2291Gln) c.6846C>A (p.His2282Gln) c.6831C>A (p.His2277Gln) c.6852C>A (p.His2284Gln) c.6828C>A (p.His2276Gln) | |
9 | g.128632234C>G | CA375098271 | SPTAN1 | c.6906C>G (p.His2302Gln) c.6933C>G (p.His2311Gln) c.6957C>G (p.His2319Gln) c.6396C>G (p.His2132Gln) c.4475C>G c.2812C>G c.6870C>G (p.His2290Gln) n.594C>G c.6795C>G (p.His2265Gln) c.6855C>G (p.His2285Gln) n.824C>G n.627C>G c.6810C>G (p.His2270Gln) c.6969C>G (p.His2323Gln) c.6954C>G (p.His2318Gln) c.6909C>G (p.His2303Gln) c.6891C>G (p.His2297Gln) c.6888C>G (p.His2296Gln) c.6873C>G (p.His2291Gln) c.6846C>G (p.His2282Gln) c.6831C>G (p.His2277Gln) c.6852C>G (p.His2284Gln) c.6828C>G (p.His2276Gln) | gnomAD v4 |
9 | g.128632234C>T | CA467304834 | SPTAN1 | c.6906C>T (p.His2302=) c.6933C>T (p.His2311=) c.6957C>T (p.His2319=) c.6396C>T (p.His2132=) c.4475C>T c.2812C>T c.6870C>T (p.His2290=) n.594C>T c.6795C>T (p.His2265=) c.6855C>T (p.His2285=) n.824C>T n.627C>T c.6810C>T (p.His2270=) c.6969C>T (p.His2323=) c.6954C>T (p.His2318=) c.6909C>T (p.His2303=) c.6891C>T (p.His2297=) c.6888C>T (p.His2296=) c.6873C>T (p.His2291=) c.6846C>T (p.His2282=) c.6831C>T (p.His2277=) c.6852C>T (p.His2284=) c.6828C>T (p.His2276=) | |
9 | g.128632235A>C | CA375098287 | SPTAN1 | c.6907A>C (p.Ser2303Arg) c.6934A>C (p.Ser2312Arg) c.6958A>C (p.Ser2320Arg) c.6397A>C (p.Ser2133Arg) c.4476A>C c.2813A>C c.6871A>C (p.Ser2291Arg) n.595A>C c.6796A>C (p.Ser2266Arg) c.6856A>C (p.Ser2286Arg) n.825A>C n.628A>C c.6811A>C (p.Ser2271Arg) c.6970A>C (p.Ser2324Arg) c.6955A>C (p.Ser2319Arg) c.6910A>C (p.Ser2304Arg) c.6892A>C (p.Ser2298Arg) c.6889A>C (p.Ser2297Arg) c.6874A>C (p.Ser2292Arg) c.6847A>C (p.Ser2283Arg) c.6832A>C (p.Ser2278Arg) c.6853A>C (p.Ser2285Arg) c.6829A>C (p.Ser2277Arg) | |
9 | g.128632235A>G | CA375098289 | SPTAN1 | c.6907A>G (p.Ser2303Gly) c.6934A>G (p.Ser2312Gly) c.6958A>G (p.Ser2320Gly) c.6397A>G (p.Ser2133Gly) c.4476A>G c.2813A>G c.6871A>G (p.Ser2291Gly) n.595A>G c.6796A>G (p.Ser2266Gly) c.6856A>G (p.Ser2286Gly) n.825A>G n.628A>G c.6811A>G (p.Ser2271Gly) c.6970A>G (p.Ser2324Gly) c.6955A>G (p.Ser2319Gly) c.6910A>G (p.Ser2304Gly) c.6892A>G (p.Ser2298Gly) c.6889A>G (p.Ser2297Gly) c.6874A>G (p.Ser2292Gly) c.6847A>G (p.Ser2283Gly) c.6832A>G (p.Ser2278Gly) c.6853A>G (p.Ser2285Gly) c.6829A>G (p.Ser2277Gly) | gnomAD v4 |
9 | g.128632235A>T | CA375098291 | SPTAN1 | c.6907A>T (p.Ser2303Cys) c.6934A>T (p.Ser2312Cys) c.6958A>T (p.Ser2320Cys) c.6397A>T (p.Ser2133Cys) c.4476A>T c.2813A>T c.6871A>T (p.Ser2291Cys) n.595A>T c.6796A>T (p.Ser2266Cys) c.6856A>T (p.Ser2286Cys) n.825A>T n.628A>T c.6811A>T (p.Ser2271Cys) c.6970A>T (p.Ser2324Cys) c.6955A>T (p.Ser2319Cys) c.6910A>T (p.Ser2304Cys) c.6892A>T (p.Ser2298Cys) c.6889A>T (p.Ser2297Cys) c.6874A>T (p.Ser2292Cys) c.6847A>T (p.Ser2283Cys) c.6832A>T (p.Ser2278Cys) c.6853A>T (p.Ser2285Cys) c.6829A>T (p.Ser2277Cys) | |
9 | g.128632235_128632236insCACACCAAACACACCCAAC | CA2786021638 | SPTAN1 | c.6907_6908insCACACCAAACACACCCAAC (p.Ser2303ThrfsTer?) c.6934_6935insCACACCAAACACACCCAAC (p.Ser2312ThrfsTer?) c.6958_6959insCACACCAAACACACCCAAC (p.Ser2320ThrfsTer?) c.6397_6398insCACACCAAACACACCCAAC (p.Ser2133ThrfsTer?) c.4476_4477insCACACCAAACACACCCAAC c.2813_2814insCACACCAAACACACCCAAC c.6871_6872insCACACCAAACACACCCAAC (p.Ser2291ThrfsTer?) n.595_596insCACACCAAACACACCCAAC c.6796_6797insCACACCAAACACACCCAAC (p.Ser2266ThrfsTer?) c.6856_6857insCACACCAAACACACCCAAC (p.Ser2286ThrfsTer?) n.825_826insCACACCAAACACACCCAAC n.628_629insCACACCAAACACACCCAAC c.6811_6812insCACACCAAACACACCCAAC (p.Ser2271ThrfsTer?) c.6970_6971insCACACCAAACACACCCAAC (p.Ser2324ThrfsTer?) c.6955_6956insCACACCAAACACACCCAAC (p.Ser2319ThrfsTer?) c.6910_6911insCACACCAAACACACCCAAC (p.Ser2304ThrfsTer?) c.6892_6893insCACACCAAACACACCCAAC (p.Ser2298ThrfsTer?) c.6889_6890insCACACCAAACACACCCAAC (p.Ser2297ThrfsTer?) c.6874_6875insCACACCAAACACACCCAAC (p.Ser2292ThrfsTer?) c.6847_6848insCACACCAAACACACCCAAC (p.Ser2283ThrfsTer?) c.6832_6833insCACACCAAACACACCCAAC (p.Ser2278ThrfsTer?) c.6853_6854insCACACCAAACACACCCAAC (p.Ser2285ThrfsTer?) c.6829_6830insCACACCAAACACACCCAAC (p.Ser2277ThrfsTer?) | |
9 | g.128632236G>A | CA375098294 | SPTAN1 | c.6908G>A (p.Ser2303Asn) c.6935G>A (p.Ser2312Asn) c.6959G>A (p.Ser2320Asn) c.6398G>A (p.Ser2133Asn) c.4477G>A c.2814G>A c.6872G>A (p.Ser2291Asn) n.596G>A c.6797G>A (p.Ser2266Asn) c.6857G>A (p.Ser2286Asn) n.826G>A n.629G>A c.6812G>A (p.Ser2271Asn) c.6971G>A (p.Ser2324Asn) c.6956G>A (p.Ser2319Asn) c.6911G>A (p.Ser2304Asn) c.6893G>A (p.Ser2298Asn) c.6890G>A (p.Ser2297Asn) c.6875G>A (p.Ser2292Asn) c.6848G>A (p.Ser2283Asn) c.6833G>A (p.Ser2278Asn) c.6854G>A (p.Ser2285Asn) c.6830G>A (p.Ser2277Asn) | |
9 | g.128632236G>C | CA375098298 | SPTAN1 | c.6908G>C (p.Ser2303Thr) c.6935G>C (p.Ser2312Thr) c.6959G>C (p.Ser2320Thr) c.6398G>C (p.Ser2133Thr) c.4477G>C c.2814G>C c.6872G>C (p.Ser2291Thr) n.596G>C c.6797G>C (p.Ser2266Thr) c.6857G>C (p.Ser2286Thr) n.826G>C n.629G>C c.6812G>C (p.Ser2271Thr) c.6971G>C (p.Ser2324Thr) c.6956G>C (p.Ser2319Thr) c.6911G>C (p.Ser2304Thr) c.6893G>C (p.Ser2298Thr) c.6890G>C (p.Ser2297Thr) c.6875G>C (p.Ser2292Thr) c.6848G>C (p.Ser2283Thr) c.6833G>C (p.Ser2278Thr) c.6854G>C (p.Ser2285Thr) c.6830G>C (p.Ser2277Thr) | |
9 | g.128632236G>T | CA375098301 | SPTAN1 | c.6908G>T (p.Ser2303Ile) c.6935G>T (p.Ser2312Ile) c.6959G>T (p.Ser2320Ile) c.6398G>T (p.Ser2133Ile) c.4477G>T c.2814G>T c.6872G>T (p.Ser2291Ile) n.596G>T c.6797G>T (p.Ser2266Ile) c.6857G>T (p.Ser2286Ile) n.826G>T n.629G>T c.6812G>T (p.Ser2271Ile) c.6971G>T (p.Ser2324Ile) c.6956G>T (p.Ser2319Ile) c.6911G>T (p.Ser2304Ile) c.6893G>T (p.Ser2298Ile) c.6890G>T (p.Ser2297Ile) c.6875G>T (p.Ser2292Ile) c.6848G>T (p.Ser2283Ile) c.6833G>T (p.Ser2278Ile) c.6854G>T (p.Ser2285Ile) c.6830G>T (p.Ser2277Ile) | |
9 | g.128632237C>A | CA375098308 | SPTAN1 | c.6909C>A (p.Ser2303Arg) c.6936C>A (p.Ser2312Arg) c.6960C>A (p.Ser2320Arg) c.6399C>A (p.Ser2133Arg) c.4478C>A c.2815C>A c.6873C>A (p.Ser2291Arg) n.597C>A c.6798C>A (p.Ser2266Arg) c.6858C>A (p.Ser2286Arg) n.827C>A n.630C>A c.6813C>A (p.Ser2271Arg) c.6972C>A (p.Ser2324Arg) c.6957C>A (p.Ser2319Arg) c.6912C>A (p.Ser2304Arg) c.6894C>A (p.Ser2298Arg) c.6891C>A (p.Ser2297Arg) c.6876C>A (p.Ser2292Arg) c.6849C>A (p.Ser2283Arg) c.6834C>A (p.Ser2278Arg) c.6855C>A (p.Ser2285Arg) c.6831C>A (p.Ser2277Arg) | |
9 | g.128632237C= | CA1880371254 | SPTAN1 | c.6909C= (p.Ser2303=) c.6936C= (p.Ser2312=) c.6960C= (p.Ser2320=) c.6399C= (p.Ser2133=) c.4478C= c.2815C= c.6873C= (p.Ser2291=) n.597C= c.6798C= (p.Ser2266=) c.6858C= (p.Ser2286=) n.827C= n.630C= c.6813C= (p.Ser2271=) c.6972C= (p.Ser2324=) c.6957C= (p.Ser2319=) c.6912C= (p.Ser2304=) c.6894C= (p.Ser2298=) c.6891C= (p.Ser2297=) c.6876C= (p.Ser2292=) c.6849C= (p.Ser2283=) c.6834C= (p.Ser2278=) c.6855C= (p.Ser2285=) c.6831C= (p.Ser2277=) | |
9 | g.128632237C>G | CA375098323 | SPTAN1 | c.6909C>G (p.Ser2303Arg) c.6936C>G (p.Ser2312Arg) c.6960C>G (p.Ser2320Arg) c.6399C>G (p.Ser2133Arg) c.4478C>G c.2815C>G c.6873C>G (p.Ser2291Arg) n.597C>G c.6798C>G (p.Ser2266Arg) c.6858C>G (p.Ser2286Arg) n.827C>G n.630C>G c.6813C>G (p.Ser2271Arg) c.6972C>G (p.Ser2324Arg) c.6957C>G (p.Ser2319Arg) c.6912C>G (p.Ser2304Arg) c.6894C>G (p.Ser2298Arg) c.6891C>G (p.Ser2297Arg) c.6876C>G (p.Ser2292Arg) c.6849C>G (p.Ser2283Arg) c.6834C>G (p.Ser2278Arg) c.6855C>G (p.Ser2285Arg) c.6831C>G (p.Ser2277Arg) | |
9 | g.128632237C>T | CA467304835 | SPTAN1 | c.6909C>T (p.Ser2303=) c.6936C>T (p.Ser2312=) c.6960C>T (p.Ser2320=) c.6399C>T (p.Ser2133=) c.4478C>T c.2815C>T c.6873C>T (p.Ser2291=) n.597C>T c.6798C>T (p.Ser2266=) c.6858C>T (p.Ser2286=) n.827C>T n.630C>T c.6813C>T (p.Ser2271=) c.6972C>T (p.Ser2324=) c.6957C>T (p.Ser2319=) c.6912C>T (p.Ser2304=) c.6894C>T (p.Ser2298=) c.6891C>T (p.Ser2297=) c.6876C>T (p.Ser2292=) c.6849C>T (p.Ser2283=) c.6834C>T (p.Ser2278=) c.6855C>T (p.Ser2285=) c.6831C>T (p.Ser2277=) | ClinVar dbSNP gnomAD v4 |
9 | g.128632238A>C | CA375098327 | SPTAN1 | c.6910A>C (p.Thr2304Pro) c.6937A>C (p.Thr2313Pro) c.6961A>C (p.Thr2321Pro) c.6400A>C (p.Thr2134Pro) c.4479A>C c.2816A>C c.6874A>C (p.Thr2292Pro) n.598A>C c.6799A>C (p.Thr2267Pro) c.6859A>C (p.Thr2287Pro) n.828A>C n.631A>C c.6814A>C (p.Thr2272Pro) c.6973A>C (p.Thr2325Pro) c.6958A>C (p.Thr2320Pro) c.6913A>C (p.Thr2305Pro) c.6895A>C (p.Thr2299Pro) c.6892A>C (p.Thr2298Pro) c.6877A>C (p.Thr2293Pro) c.6850A>C (p.Thr2284Pro) c.6835A>C (p.Thr2279Pro) c.6856A>C (p.Thr2286Pro) c.6832A>C (p.Thr2278Pro) | |
9 | g.128632238A>G | CA375098331 | SPTAN1 | c.6910A>G (p.Thr2304Ala) c.6937A>G (p.Thr2313Ala) c.6961A>G (p.Thr2321Ala) c.6400A>G (p.Thr2134Ala) c.4479A>G c.2816A>G c.6874A>G (p.Thr2292Ala) n.598A>G c.6799A>G (p.Thr2267Ala) c.6859A>G (p.Thr2287Ala) n.828A>G n.631A>G c.6814A>G (p.Thr2272Ala) c.6973A>G (p.Thr2325Ala) c.6958A>G (p.Thr2320Ala) c.6913A>G (p.Thr2305Ala) c.6895A>G (p.Thr2299Ala) c.6892A>G (p.Thr2298Ala) c.6877A>G (p.Thr2293Ala) c.6850A>G (p.Thr2284Ala) c.6835A>G (p.Thr2279Ala) c.6856A>G (p.Thr2286Ala) c.6832A>G (p.Thr2278Ala) | |
9 | g.128632238A>T | CA375098329 | SPTAN1 | c.6910A>T (p.Thr2304Ser) c.6937A>T (p.Thr2313Ser) c.6961A>T (p.Thr2321Ser) c.6400A>T (p.Thr2134Ser) c.4479A>T c.2816A>T c.6874A>T (p.Thr2292Ser) n.598A>T c.6799A>T (p.Thr2267Ser) c.6859A>T (p.Thr2287Ser) n.828A>T n.631A>T c.6814A>T (p.Thr2272Ser) c.6973A>T (p.Thr2325Ser) c.6958A>T (p.Thr2320Ser) c.6913A>T (p.Thr2305Ser) c.6895A>T (p.Thr2299Ser) c.6892A>T (p.Thr2298Ser) c.6877A>T (p.Thr2293Ser) c.6850A>T (p.Thr2284Ser) c.6835A>T (p.Thr2279Ser) c.6856A>T (p.Thr2286Ser) c.6832A>T (p.Thr2278Ser) | |
9 | g.128632239C>A | CA375098333 | SPTAN1 | c.6911C>A (p.Thr2304Asn) c.6938C>A (p.Thr2313Asn) c.6962C>A (p.Thr2321Asn) c.6401C>A (p.Thr2134Asn) c.4480C>A c.2817C>A c.6875C>A (p.Thr2292Asn) n.599C>A c.6800C>A (p.Thr2267Asn) c.6860C>A (p.Thr2287Asn) n.829C>A n.632C>A c.6815C>A (p.Thr2272Asn) c.6974C>A (p.Thr2325Asn) c.6959C>A (p.Thr2320Asn) c.6914C>A (p.Thr2305Asn) c.6896C>A (p.Thr2299Asn) c.6893C>A (p.Thr2298Asn) c.6878C>A (p.Thr2293Asn) c.6851C>A (p.Thr2284Asn) c.6836C>A (p.Thr2279Asn) c.6857C>A (p.Thr2286Asn) c.6833C>A (p.Thr2278Asn) | |
9 | g.128632239C>G | CA375098336 | SPTAN1 | c.6911C>G (p.Thr2304Ser) c.6938C>G (p.Thr2313Ser) c.6962C>G (p.Thr2321Ser) c.6401C>G (p.Thr2134Ser) c.4480C>G c.2817C>G c.6875C>G (p.Thr2292Ser) n.599C>G c.6800C>G (p.Thr2267Ser) c.6860C>G (p.Thr2287Ser) n.829C>G n.632C>G c.6815C>G (p.Thr2272Ser) c.6974C>G (p.Thr2325Ser) c.6959C>G (p.Thr2320Ser) c.6914C>G (p.Thr2305Ser) c.6896C>G (p.Thr2299Ser) c.6893C>G (p.Thr2298Ser) c.6878C>G (p.Thr2293Ser) c.6851C>G (p.Thr2284Ser) c.6836C>G (p.Thr2279Ser) c.6857C>G (p.Thr2286Ser) c.6833C>G (p.Thr2278Ser) | |
9 | g.128632239C>T | CA375098339 | SPTAN1 | c.6911C>T (p.Thr2304Ile) c.6938C>T (p.Thr2313Ile) c.6962C>T (p.Thr2321Ile) c.6401C>T (p.Thr2134Ile) c.4480C>T c.2817C>T c.6875C>T (p.Thr2292Ile) n.599C>T c.6800C>T (p.Thr2267Ile) c.6860C>T (p.Thr2287Ile) n.829C>T n.632C>T c.6815C>T (p.Thr2272Ile) c.6974C>T (p.Thr2325Ile) c.6959C>T (p.Thr2320Ile) c.6914C>T (p.Thr2305Ile) c.6896C>T (p.Thr2299Ile) c.6893C>T (p.Thr2298Ile) c.6878C>T (p.Thr2293Ile) c.6851C>T (p.Thr2284Ile) c.6836C>T (p.Thr2279Ile) c.6857C>T (p.Thr2286Ile) c.6833C>T (p.Thr2278Ile) | |
9 | g.128632240C>A | CA467304836 | SPTAN1 | c.6912C>A (p.Thr2304=) c.6939C>A (p.Thr2313=) c.6963C>A (p.Thr2321=) c.6402C>A (p.Thr2134=) c.4481C>A c.2818C>A c.6876C>A (p.Thr2292=) n.600C>A c.6801C>A (p.Thr2267=) c.6861C>A (p.Thr2287=) n.830C>A n.633C>A c.6816C>A (p.Thr2272=) c.6975C>A (p.Thr2325=) c.6960C>A (p.Thr2320=) c.6915C>A (p.Thr2305=) c.6897C>A (p.Thr2299=) c.6894C>A (p.Thr2298=) c.6879C>A (p.Thr2293=) c.6852C>A (p.Thr2284=) c.6837C>A (p.Thr2279=) c.6858C>A (p.Thr2286=) c.6834C>A (p.Thr2278=) | |
9 | g.128632240C= | CA1880371255 | SPTAN1 | c.6912C= (p.Thr2304=) c.6939C= (p.Thr2313=) c.6963C= (p.Thr2321=) c.6402C= (p.Thr2134=) c.4481C= c.2818C= c.6876C= (p.Thr2292=) n.600C= c.6801C= (p.Thr2267=) c.6861C= (p.Thr2287=) n.830C= n.633C= c.6816C= (p.Thr2272=) c.6975C= (p.Thr2325=) c.6960C= (p.Thr2320=) c.6915C= (p.Thr2305=) c.6897C= (p.Thr2299=) c.6894C= (p.Thr2298=) c.6879C= (p.Thr2293=) c.6852C= (p.Thr2284=) c.6837C= (p.Thr2279=) c.6858C= (p.Thr2286=) c.6834C= (p.Thr2278=) | |
9 | g.128632240C>G | CA467304837 | SPTAN1 | c.6912C>G (p.Thr2304=) c.6939C>G (p.Thr2313=) c.6963C>G (p.Thr2321=) c.6402C>G (p.Thr2134=) c.4481C>G c.2818C>G c.6876C>G (p.Thr2292=) n.600C>G c.6801C>G (p.Thr2267=) c.6861C>G (p.Thr2287=) n.830C>G n.633C>G c.6816C>G (p.Thr2272=) c.6975C>G (p.Thr2325=) c.6960C>G (p.Thr2320=) c.6915C>G (p.Thr2305=) c.6897C>G (p.Thr2299=) c.6894C>G (p.Thr2298=) c.6879C>G (p.Thr2293=) c.6852C>G (p.Thr2284=) c.6837C>G (p.Thr2279=) c.6858C>G (p.Thr2286=) c.6834C>G (p.Thr2278=) | |
9 | g.128632240C>T | CA10626532 | SPTAN1 | c.6912C>T (p.Thr2304=) c.6939C>T (p.Thr2313=) c.6963C>T (p.Thr2321=) c.6402C>T (p.Thr2134=) c.4481C>T c.2818C>T c.6876C>T (p.Thr2292=) n.600C>T c.6801C>T (p.Thr2267=) c.6861C>T (p.Thr2287=) n.830C>T n.633C>T c.6816C>T (p.Thr2272=) c.6975C>T (p.Thr2325=) c.6960C>T (p.Thr2320=) c.6915C>T (p.Thr2305=) c.6897C>T (p.Thr2299=) c.6894C>T (p.Thr2298=) c.6879C>T (p.Thr2293=) c.6852C>T (p.Thr2284=) c.6837C>T (p.Thr2279=) c.6858C>T (p.Thr2286=) c.6834C>T (p.Thr2278=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632241G>A | CA375098349 | SPTAN1 | c.6913G>A (p.Val2305Met) c.6940G>A (p.Val2314Met) c.6964G>A (p.Val2322Met) c.6403G>A (p.Val2135Met) c.4482G>A c.2819G>A c.6877G>A (p.Val2293Met) n.601G>A c.6802G>A (p.Val2268Met) c.6862G>A (p.Val2288Met) n.831G>A n.634G>A c.6817G>A (p.Val2273Met) c.6976G>A (p.Val2326Met) c.6961G>A (p.Val2321Met) c.6916G>A (p.Val2306Met) c.6898G>A (p.Val2300Met) c.6895G>A (p.Val2299Met) c.6880G>A (p.Val2294Met) c.6853G>A (p.Val2285Met) c.6838G>A (p.Val2280Met) c.6859G>A (p.Val2287Met) c.6835G>A (p.Val2279Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632241G>C | CA375098351 | SPTAN1 | c.6913G>C (p.Val2305Leu) c.6940G>C (p.Val2314Leu) c.6964G>C (p.Val2322Leu) c.6403G>C (p.Val2135Leu) c.4482G>C c.2819G>C c.6877G>C (p.Val2293Leu) n.601G>C c.6802G>C (p.Val2268Leu) c.6862G>C (p.Val2288Leu) n.831G>C n.634G>C c.6817G>C (p.Val2273Leu) c.6976G>C (p.Val2326Leu) c.6961G>C (p.Val2321Leu) c.6916G>C (p.Val2306Leu) c.6898G>C (p.Val2300Leu) c.6895G>C (p.Val2299Leu) c.6880G>C (p.Val2294Leu) c.6853G>C (p.Val2285Leu) c.6838G>C (p.Val2280Leu) c.6859G>C (p.Val2287Leu) c.6835G>C (p.Val2279Leu) | |
9 | g.128632241G= | CA1880371256 | SPTAN1 | c.6913G= (p.Val2305=) c.6940G= (p.Val2314=) c.6964G= (p.Val2322=) c.6403G= (p.Val2135=) c.4482G= c.2819G= c.6877G= (p.Val2293=) n.601G= c.6802G= (p.Val2268=) c.6862G= (p.Val2288=) n.831G= n.634G= c.6817G= (p.Val2273=) c.6976G= (p.Val2326=) c.6961G= (p.Val2321=) c.6916G= (p.Val2306=) c.6898G= (p.Val2300=) c.6895G= (p.Val2299=) c.6880G= (p.Val2294=) c.6853G= (p.Val2285=) c.6838G= (p.Val2280=) c.6859G= (p.Val2287=) c.6835G= (p.Val2279=) | |
9 | g.128632241G>T | CA375098350 | SPTAN1 | c.6913G>T (p.Val2305Leu) c.6940G>T (p.Val2314Leu) c.6964G>T (p.Val2322Leu) c.6403G>T (p.Val2135Leu) c.4482G>T c.2819G>T c.6877G>T (p.Val2293Leu) n.601G>T c.6802G>T (p.Val2268Leu) c.6862G>T (p.Val2288Leu) n.831G>T n.634G>T c.6817G>T (p.Val2273Leu) c.6976G>T (p.Val2326Leu) c.6961G>T (p.Val2321Leu) c.6916G>T (p.Val2306Leu) c.6898G>T (p.Val2300Leu) c.6895G>T (p.Val2299Leu) c.6880G>T (p.Val2294Leu) c.6853G>T (p.Val2285Leu) c.6838G>T (p.Val2280Leu) c.6859G>T (p.Val2287Leu) c.6835G>T (p.Val2279Leu) | |
9 | g.128632242T>A | CA375098353 | SPTAN1 | c.6914T>A (p.Val2305Glu) c.6941T>A (p.Val2314Glu) c.6965T>A (p.Val2322Glu) c.6404T>A (p.Val2135Glu) c.4483T>A c.2820T>A c.6878T>A (p.Val2293Glu) n.602T>A c.6803T>A (p.Val2268Glu) c.6863T>A (p.Val2288Glu) n.832T>A n.635T>A c.6818T>A (p.Val2273Glu) c.6977T>A (p.Val2326Glu) c.6962T>A (p.Val2321Glu) c.6917T>A (p.Val2306Glu) c.6899T>A (p.Val2300Glu) c.6896T>A (p.Val2299Glu) c.6881T>A (p.Val2294Glu) c.6854T>A (p.Val2285Glu) c.6839T>A (p.Val2280Glu) c.6860T>A (p.Val2287Glu) c.6836T>A (p.Val2279Glu) | |
9 | g.128632242T>C | CA375098355 | SPTAN1 | c.6914T>C (p.Val2305Ala) c.6941T>C (p.Val2314Ala) c.6965T>C (p.Val2322Ala) c.6404T>C (p.Val2135Ala) c.4483T>C c.2820T>C c.6878T>C (p.Val2293Ala) n.602T>C c.6803T>C (p.Val2268Ala) c.6863T>C (p.Val2288Ala) n.832T>C n.635T>C c.6818T>C (p.Val2273Ala) c.6977T>C (p.Val2326Ala) c.6962T>C (p.Val2321Ala) c.6917T>C (p.Val2306Ala) c.6899T>C (p.Val2300Ala) c.6896T>C (p.Val2299Ala) c.6881T>C (p.Val2294Ala) c.6854T>C (p.Val2285Ala) c.6839T>C (p.Val2280Ala) c.6860T>C (p.Val2287Ala) c.6836T>C (p.Val2279Ala) | |
9 | g.128632242T>G | CA375098369 | SPTAN1 | c.6914T>G (p.Val2305Gly) c.6941T>G (p.Val2314Gly) c.6965T>G (p.Val2322Gly) c.6404T>G (p.Val2135Gly) c.4483T>G c.2820T>G c.6878T>G (p.Val2293Gly) n.602T>G c.6803T>G (p.Val2268Gly) c.6863T>G (p.Val2288Gly) n.832T>G n.635T>G c.6818T>G (p.Val2273Gly) c.6977T>G (p.Val2326Gly) c.6962T>G (p.Val2321Gly) c.6917T>G (p.Val2306Gly) c.6899T>G (p.Val2300Gly) c.6896T>G (p.Val2299Gly) c.6881T>G (p.Val2294Gly) c.6854T>G (p.Val2285Gly) c.6839T>G (p.Val2280Gly) c.6860T>G (p.Val2287Gly) c.6836T>G (p.Val2279Gly) | |
9 | g.128632243G>A | CA467304838 | SPTAN1 | c.6915G>A (p.Val2305=) c.6942G>A (p.Val2314=) c.6966G>A (p.Val2322=) c.6405G>A (p.Val2135=) c.4484G>A c.2821G>A c.6879G>A (p.Val2293=) n.603G>A c.6804G>A (p.Val2268=) c.6864G>A (p.Val2288=) n.833G>A n.636G>A c.6819G>A (p.Val2273=) c.6978G>A (p.Val2326=) c.6963G>A (p.Val2321=) c.6918G>A (p.Val2306=) c.6900G>A (p.Val2300=) c.6897G>A (p.Val2299=) c.6882G>A (p.Val2294=) c.6855G>A (p.Val2285=) c.6840G>A (p.Val2280=) c.6861G>A (p.Val2287=) c.6837G>A (p.Val2279=) | |
9 | g.128632243G>C | CA467304839 | SPTAN1 | c.6915G>C (p.Val2305=) c.6942G>C (p.Val2314=) c.6966G>C (p.Val2322=) c.6405G>C (p.Val2135=) c.4484G>C c.2821G>C c.6879G>C (p.Val2293=) n.603G>C c.6804G>C (p.Val2268=) c.6864G>C (p.Val2288=) n.833G>C n.636G>C c.6819G>C (p.Val2273=) c.6978G>C (p.Val2326=) c.6963G>C (p.Val2321=) c.6918G>C (p.Val2306=) c.6900G>C (p.Val2300=) c.6897G>C (p.Val2299=) c.6882G>C (p.Val2294=) c.6855G>C (p.Val2285=) c.6840G>C (p.Val2280=) c.6861G>C (p.Val2287=) c.6837G>C (p.Val2279=) | |
9 | g.128632243G>T | CA467304840 | SPTAN1 | c.6915G>T (p.Val2305=) c.6942G>T (p.Val2314=) c.6966G>T (p.Val2322=) c.6405G>T (p.Val2135=) c.4484G>T c.2821G>T c.6879G>T (p.Val2293=) n.603G>T c.6804G>T (p.Val2268=) c.6864G>T (p.Val2288=) n.833G>T n.636G>T c.6819G>T (p.Val2273=) c.6978G>T (p.Val2326=) c.6963G>T (p.Val2321=) c.6918G>T (p.Val2306=) c.6900G>T (p.Val2300=) c.6897G>T (p.Val2299=) c.6882G>T (p.Val2294=) c.6855G>T (p.Val2285=) c.6840G>T (p.Val2280=) c.6861G>T (p.Val2287=) c.6837G>T (p.Val2279=) | |
9 | g.128632244G>A | CA375098373 | SPTAN1 | c.6916G>A (p.Gly2306Ser) c.6943G>A (p.Gly2315Ser) c.6967G>A (p.Gly2323Ser) c.6406G>A (p.Gly2136Ser) c.4485G>A c.2822G>A c.6880G>A (p.Gly2294Ser) n.604G>A c.6805G>A (p.Gly2269Ser) c.6865G>A (p.Gly2289Ser) n.834G>A n.637G>A c.6820G>A (p.Gly2274Ser) c.6979G>A (p.Gly2327Ser) c.6964G>A (p.Gly2322Ser) c.6919G>A (p.Gly2307Ser) c.6901G>A (p.Gly2301Ser) c.6898G>A (p.Gly2300Ser) c.6883G>A (p.Gly2295Ser) c.6856G>A (p.Gly2286Ser) c.6841G>A (p.Gly2281Ser) c.6862G>A (p.Gly2288Ser) c.6838G>A (p.Gly2280Ser) | |
9 | g.128632244G>C | CA375098374 | SPTAN1 | c.6916G>C (p.Gly2306Arg) c.6943G>C (p.Gly2315Arg) c.6967G>C (p.Gly2323Arg) c.6406G>C (p.Gly2136Arg) c.4485G>C c.2822G>C c.6880G>C (p.Gly2294Arg) n.604G>C c.6805G>C (p.Gly2269Arg) c.6865G>C (p.Gly2289Arg) n.834G>C n.637G>C c.6820G>C (p.Gly2274Arg) c.6979G>C (p.Gly2327Arg) c.6964G>C (p.Gly2322Arg) c.6919G>C (p.Gly2307Arg) c.6901G>C (p.Gly2301Arg) c.6898G>C (p.Gly2300Arg) c.6883G>C (p.Gly2295Arg) c.6856G>C (p.Gly2286Arg) c.6841G>C (p.Gly2281Arg) c.6862G>C (p.Gly2288Arg) c.6838G>C (p.Gly2280Arg) | |
9 | g.128632244G>T | CA375098375 | SPTAN1 | c.6916G>T (p.Gly2306Cys) c.6943G>T (p.Gly2315Cys) c.6967G>T (p.Gly2323Cys) c.6406G>T (p.Gly2136Cys) c.4485G>T c.2822G>T c.6880G>T (p.Gly2294Cys) n.604G>T c.6805G>T (p.Gly2269Cys) c.6865G>T (p.Gly2289Cys) n.834G>T n.637G>T c.6820G>T (p.Gly2274Cys) c.6979G>T (p.Gly2327Cys) c.6964G>T (p.Gly2322Cys) c.6919G>T (p.Gly2307Cys) c.6901G>T (p.Gly2301Cys) c.6898G>T (p.Gly2300Cys) c.6883G>T (p.Gly2295Cys) c.6856G>T (p.Gly2286Cys) c.6841G>T (p.Gly2281Cys) c.6862G>T (p.Gly2288Cys) c.6838G>T (p.Gly2280Cys) | |
9 | g.128632245G>A | CA375098376 | SPTAN1 | c.6917G>A (p.Gly2306Asp) c.6944G>A (p.Gly2315Asp) c.6968G>A (p.Gly2323Asp) c.6407G>A (p.Gly2136Asp) c.4486G>A c.2823G>A c.6881G>A (p.Gly2294Asp) n.605G>A c.6806G>A (p.Gly2269Asp) c.6866G>A (p.Gly2289Asp) n.835G>A n.638G>A c.6821G>A (p.Gly2274Asp) c.6980G>A (p.Gly2327Asp) c.6965G>A (p.Gly2322Asp) c.6920G>A (p.Gly2307Asp) c.6902G>A (p.Gly2301Asp) c.6899G>A (p.Gly2300Asp) c.6884G>A (p.Gly2295Asp) c.6857G>A (p.Gly2286Asp) c.6842G>A (p.Gly2281Asp) c.6863G>A (p.Gly2288Asp) c.6839G>A (p.Gly2280Asp) | |
9 | g.128632245G>C | CA375098377 | SPTAN1 | c.6917G>C (p.Gly2306Ala) c.6944G>C (p.Gly2315Ala) c.6968G>C (p.Gly2323Ala) c.6407G>C (p.Gly2136Ala) c.4486G>C c.2823G>C c.6881G>C (p.Gly2294Ala) n.605G>C c.6806G>C (p.Gly2269Ala) c.6866G>C (p.Gly2289Ala) n.835G>C n.638G>C c.6821G>C (p.Gly2274Ala) c.6980G>C (p.Gly2327Ala) c.6965G>C (p.Gly2322Ala) c.6920G>C (p.Gly2307Ala) c.6902G>C (p.Gly2301Ala) c.6899G>C (p.Gly2300Ala) c.6884G>C (p.Gly2295Ala) c.6857G>C (p.Gly2286Ala) c.6842G>C (p.Gly2281Ala) c.6863G>C (p.Gly2288Ala) c.6839G>C (p.Gly2280Ala) | |
9 | g.128632245G>T | CA375098379 | SPTAN1 | c.6917G>T (p.Gly2306Val) c.6944G>T (p.Gly2315Val) c.6968G>T (p.Gly2323Val) c.6407G>T (p.Gly2136Val) c.4486G>T c.2823G>T c.6881G>T (p.Gly2294Val) n.605G>T c.6806G>T (p.Gly2269Val) c.6866G>T (p.Gly2289Val) n.835G>T n.638G>T c.6821G>T (p.Gly2274Val) c.6980G>T (p.Gly2327Val) c.6965G>T (p.Gly2322Val) c.6920G>T (p.Gly2307Val) c.6902G>T (p.Gly2301Val) c.6899G>T (p.Gly2300Val) c.6884G>T (p.Gly2295Val) c.6857G>T (p.Gly2286Val) c.6842G>T (p.Gly2281Val) c.6863G>T (p.Gly2288Val) c.6839G>T (p.Gly2280Val) | |
9 | g.128632246C>A | CA467304841 | SPTAN1 | c.6918C>A (p.Gly2306=) c.6945C>A (p.Gly2315=) c.6969C>A (p.Gly2323=) c.6408C>A (p.Gly2136=) c.4487C>A c.2824C>A c.6882C>A (p.Gly2294=) n.606C>A c.6807C>A (p.Gly2269=) c.6867C>A (p.Gly2289=) n.836C>A n.639C>A c.6822C>A (p.Gly2274=) c.6981C>A (p.Gly2327=) c.6966C>A (p.Gly2322=) c.6921C>A (p.Gly2307=) c.6903C>A (p.Gly2301=) c.6900C>A (p.Gly2300=) c.6885C>A (p.Gly2295=) c.6858C>A (p.Gly2286=) c.6843C>A (p.Gly2281=) c.6864C>A (p.Gly2288=) c.6840C>A (p.Gly2280=) | |
9 | g.128632246C= | CA1880371257 | SPTAN1 | c.6918C= (p.Gly2306=) c.6945C= (p.Gly2315=) c.6969C= (p.Gly2323=) c.6408C= (p.Gly2136=) c.4487C= c.2824C= c.6882C= (p.Gly2294=) n.606C= c.6807C= (p.Gly2269=) c.6867C= (p.Gly2289=) n.836C= n.639C= c.6822C= (p.Gly2274=) c.6981C= (p.Gly2327=) c.6966C= (p.Gly2322=) c.6921C= (p.Gly2307=) c.6903C= (p.Gly2301=) c.6900C= (p.Gly2300=) c.6885C= (p.Gly2295=) c.6858C= (p.Gly2286=) c.6843C= (p.Gly2281=) c.6864C= (p.Gly2288=) c.6840C= (p.Gly2280=) | |
9 | g.128632246C>G | CA467304842 | SPTAN1 | c.6918C>G (p.Gly2306=) c.6945C>G (p.Gly2315=) c.6969C>G (p.Gly2323=) c.6408C>G (p.Gly2136=) c.4487C>G c.2824C>G c.6882C>G (p.Gly2294=) n.606C>G c.6807C>G (p.Gly2269=) c.6867C>G (p.Gly2289=) n.836C>G n.639C>G c.6822C>G (p.Gly2274=) c.6981C>G (p.Gly2327=) c.6966C>G (p.Gly2322=) c.6921C>G (p.Gly2307=) c.6903C>G (p.Gly2301=) c.6900C>G (p.Gly2300=) c.6885C>G (p.Gly2295=) c.6858C>G (p.Gly2286=) c.6843C>G (p.Gly2281=) c.6864C>G (p.Gly2288=) c.6840C>G (p.Gly2280=) | ClinVar gnomAD v4 |
9 | g.128632246C>T | CA467304843 | SPTAN1 | c.6918C>T (p.Gly2306=) c.6945C>T (p.Gly2315=) c.6969C>T (p.Gly2323=) c.6408C>T (p.Gly2136=) c.4487C>T c.2824C>T c.6882C>T (p.Gly2294=) n.606C>T c.6807C>T (p.Gly2269=) c.6867C>T (p.Gly2289=) n.836C>T n.639C>T c.6822C>T (p.Gly2274=) c.6981C>T (p.Gly2327=) c.6966C>T (p.Gly2322=) c.6921C>T (p.Gly2307=) c.6903C>T (p.Gly2301=) c.6900C>T (p.Gly2300=) c.6885C>T (p.Gly2295=) c.6858C>T (p.Gly2286=) c.6843C>T (p.Gly2281=) c.6864C>T (p.Gly2288=) c.6840C>T (p.Gly2280=) | ClinVar dbSNP gnomAD v4 |
9 | g.128632247C>A | CA375098383 | SPTAN1 | c.6919C>A (p.Leu2307Ile) c.6946C>A (p.Leu2316Ile) c.6970C>A (p.Leu2324Ile) c.6409C>A (p.Leu2137Ile) c.4488C>A c.2825C>A c.6883C>A (p.Leu2295Ile) n.607C>A c.6808C>A (p.Leu2270Ile) c.6868C>A (p.Leu2290Ile) n.837C>A n.640C>A c.6823C>A (p.Leu2275Ile) c.6982C>A (p.Leu2328Ile) c.6967C>A (p.Leu2323Ile) c.6922C>A (p.Leu2308Ile) c.6904C>A (p.Leu2302Ile) c.6901C>A (p.Leu2301Ile) c.6886C>A (p.Leu2296Ile) c.6859C>A (p.Leu2287Ile) c.6844C>A (p.Leu2282Ile) c.6865C>A (p.Leu2289Ile) c.6841C>A (p.Leu2281Ile) | |
9 | g.128632247C>G | CA375098386 | SPTAN1 | c.6919C>G (p.Leu2307Val) c.6946C>G (p.Leu2316Val) c.6970C>G (p.Leu2324Val) c.6409C>G (p.Leu2137Val) c.4488C>G c.2825C>G c.6883C>G (p.Leu2295Val) n.607C>G c.6808C>G (p.Leu2270Val) c.6868C>G (p.Leu2290Val) n.837C>G n.640C>G c.6823C>G (p.Leu2275Val) c.6982C>G (p.Leu2328Val) c.6967C>G (p.Leu2323Val) c.6922C>G (p.Leu2308Val) c.6904C>G (p.Leu2302Val) c.6901C>G (p.Leu2301Val) c.6886C>G (p.Leu2296Val) c.6859C>G (p.Leu2287Val) c.6844C>G (p.Leu2282Val) c.6865C>G (p.Leu2289Val) c.6841C>G (p.Leu2281Val) | |
9 | g.128632247C>T | CA375098397 | SPTAN1 | c.6919C>T (p.Leu2307Phe) c.6946C>T (p.Leu2316Phe) c.6970C>T (p.Leu2324Phe) c.6409C>T (p.Leu2137Phe) c.4488C>T c.2825C>T c.6883C>T (p.Leu2295Phe) n.607C>T c.6808C>T (p.Leu2270Phe) c.6868C>T (p.Leu2290Phe) n.837C>T n.640C>T c.6823C>T (p.Leu2275Phe) c.6982C>T (p.Leu2328Phe) c.6967C>T (p.Leu2323Phe) c.6922C>T (p.Leu2308Phe) c.6904C>T (p.Leu2302Phe) c.6901C>T (p.Leu2301Phe) c.6886C>T (p.Leu2296Phe) c.6859C>T (p.Leu2287Phe) c.6844C>T (p.Leu2282Phe) c.6865C>T (p.Leu2289Phe) c.6841C>T (p.Leu2281Phe) | |
9 | g.128632248T>A | CA375098404 | SPTAN1 | c.6920T>A (p.Leu2307His) c.6947T>A (p.Leu2316His) c.6971T>A (p.Leu2324His) c.6410T>A (p.Leu2137His) c.4489T>A c.2826T>A c.6884T>A (p.Leu2295His) n.608T>A c.6809T>A (p.Leu2270His) c.6869T>A (p.Leu2290His) n.838T>A n.641T>A c.6824T>A (p.Leu2275His) c.6983T>A (p.Leu2328His) c.6968T>A (p.Leu2323His) c.6923T>A (p.Leu2308His) c.6905T>A (p.Leu2302His) c.6902T>A (p.Leu2301His) c.6887T>A (p.Leu2296His) c.6860T>A (p.Leu2287His) c.6845T>A (p.Leu2282His) c.6866T>A (p.Leu2289His) c.6842T>A (p.Leu2281His) | |
9 | g.128632248T>C | CA375098402 | SPTAN1 | c.6920T>C (p.Leu2307Pro) c.6947T>C (p.Leu2316Pro) c.6971T>C (p.Leu2324Pro) c.6410T>C (p.Leu2137Pro) c.4489T>C c.2826T>C c.6884T>C (p.Leu2295Pro) n.608T>C c.6809T>C (p.Leu2270Pro) c.6869T>C (p.Leu2290Pro) n.838T>C n.641T>C c.6824T>C (p.Leu2275Pro) c.6983T>C (p.Leu2328Pro) c.6968T>C (p.Leu2323Pro) c.6923T>C (p.Leu2308Pro) c.6905T>C (p.Leu2302Pro) c.6902T>C (p.Leu2301Pro) c.6887T>C (p.Leu2296Pro) c.6860T>C (p.Leu2287Pro) c.6845T>C (p.Leu2282Pro) c.6866T>C (p.Leu2289Pro) c.6842T>C (p.Leu2281Pro) | |
9 | g.128632248T>G | CA375098399 | SPTAN1 | c.6920T>G (p.Leu2307Arg) c.6947T>G (p.Leu2316Arg) c.6971T>G (p.Leu2324Arg) c.6410T>G (p.Leu2137Arg) c.4489T>G c.2826T>G c.6884T>G (p.Leu2295Arg) n.608T>G c.6809T>G (p.Leu2270Arg) c.6869T>G (p.Leu2290Arg) n.838T>G n.641T>G c.6824T>G (p.Leu2275Arg) c.6983T>G (p.Leu2328Arg) c.6968T>G (p.Leu2323Arg) c.6923T>G (p.Leu2308Arg) c.6905T>G (p.Leu2302Arg) c.6902T>G (p.Leu2301Arg) c.6887T>G (p.Leu2296Arg) c.6860T>G (p.Leu2287Arg) c.6845T>G (p.Leu2282Arg) c.6866T>G (p.Leu2289Arg) c.6842T>G (p.Leu2281Arg) | |
9 | g.128632249C>A | CA467304844 | SPTAN1 | c.6921C>A (p.Leu2307=) c.6948C>A (p.Leu2316=) c.6972C>A (p.Leu2324=) c.6411C>A (p.Leu2137=) c.4490C>A c.2827C>A c.6885C>A (p.Leu2295=) n.609C>A c.6810C>A (p.Leu2270=) c.6870C>A (p.Leu2290=) n.839C>A n.642C>A c.6825C>A (p.Leu2275=) c.6984C>A (p.Leu2328=) c.6969C>A (p.Leu2323=) c.6924C>A (p.Leu2308=) c.6906C>A (p.Leu2302=) c.6903C>A (p.Leu2301=) c.6888C>A (p.Leu2296=) c.6861C>A (p.Leu2287=) c.6846C>A (p.Leu2282=) c.6867C>A (p.Leu2289=) c.6843C>A (p.Leu2281=) | |
9 | g.128632249C= | CA1880371258 | SPTAN1 | c.6921C= (p.Leu2307=) c.6948C= (p.Leu2316=) c.6972C= (p.Leu2324=) c.6411C= (p.Leu2137=) c.4490C= c.2827C= c.6885C= (p.Leu2295=) n.609C= c.6810C= (p.Leu2270=) c.6870C= (p.Leu2290=) n.839C= n.642C= c.6825C= (p.Leu2275=) c.6984C= (p.Leu2328=) c.6969C= (p.Leu2323=) c.6924C= (p.Leu2308=) c.6906C= (p.Leu2302=) c.6903C= (p.Leu2301=) c.6888C= (p.Leu2296=) c.6861C= (p.Leu2287=) c.6846C= (p.Leu2282=) c.6867C= (p.Leu2289=) c.6843C= (p.Leu2281=) | |
9 | g.128632249C>G | CA467304845 | SPTAN1 | c.6921C>G (p.Leu2307=) c.6948C>G (p.Leu2316=) c.6972C>G (p.Leu2324=) c.6411C>G (p.Leu2137=) c.4490C>G c.2827C>G c.6885C>G (p.Leu2295=) n.609C>G c.6810C>G (p.Leu2270=) c.6870C>G (p.Leu2290=) n.839C>G n.642C>G c.6825C>G (p.Leu2275=) c.6984C>G (p.Leu2328=) c.6969C>G (p.Leu2323=) c.6924C>G (p.Leu2308=) c.6906C>G (p.Leu2302=) c.6903C>G (p.Leu2301=) c.6888C>G (p.Leu2296=) c.6861C>G (p.Leu2287=) c.6846C>G (p.Leu2282=) c.6867C>G (p.Leu2289=) c.6843C>G (p.Leu2281=) | dbSNP |
9 | g.128632249C>T | CA5265926 | SPTAN1 | c.6921C>T (p.Leu2307=) c.6948C>T (p.Leu2316=) c.6972C>T (p.Leu2324=) c.6411C>T (p.Leu2137=) c.4490C>T c.2827C>T c.6885C>T (p.Leu2295=) n.609C>T c.6810C>T (p.Leu2270=) c.6870C>T (p.Leu2290=) n.839C>T n.642C>T c.6825C>T (p.Leu2275=) c.6984C>T (p.Leu2328=) c.6969C>T (p.Leu2323=) c.6924C>T (p.Leu2308=) c.6906C>T (p.Leu2302=) c.6903C>T (p.Leu2301=) c.6888C>T (p.Leu2296=) c.6861C>T (p.Leu2287=) c.6846C>T (p.Leu2282=) c.6867C>T (p.Leu2289=) c.6843C>T (p.Leu2281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.128632250G>A | CA375098414 | SPTAN1 | c.6922G>A (p.Ala2308Thr) c.6949G>A (p.Ala2317Thr) c.6973G>A (p.Ala2325Thr) c.6412G>A (p.Ala2138Thr) c.4491G>A c.2828G>A c.6886G>A (p.Ala2296Thr) n.610G>A c.6811G>A (p.Ala2271Thr) c.6871G>A (p.Ala2291Thr) n.840G>A n.643G>A c.6826G>A (p.Ala2276Thr) c.6985G>A (p.Ala2329Thr) c.6970G>A (p.Ala2324Thr) c.6925G>A (p.Ala2309Thr) c.6907G>A (p.Ala2303Thr) c.6904G>A (p.Ala2302Thr) c.6889G>A (p.Ala2297Thr) c.6862G>A (p.Ala2288Thr) c.6847G>A (p.Ala2283Thr) c.6868G>A (p.Ala2290Thr) c.6844G>A (p.Ala2282Thr) | ClinVar dbSNP COSMIC |
9 | g.128632250G>C | CA375098412 | SPTAN1 | c.6922G>C (p.Ala2308Pro) c.6949G>C (p.Ala2317Pro) c.6973G>C (p.Ala2325Pro) c.6412G>C (p.Ala2138Pro) c.4491G>C c.2828G>C c.6886G>C (p.Ala2296Pro) n.610G>C c.6811G>C (p.Ala2271Pro) c.6871G>C (p.Ala2291Pro) n.840G>C n.643G>C c.6826G>C (p.Ala2276Pro) c.6985G>C (p.Ala2329Pro) c.6970G>C (p.Ala2324Pro) c.6925G>C (p.Ala2309Pro) c.6907G>C (p.Ala2303Pro) c.6904G>C (p.Ala2302Pro) c.6889G>C (p.Ala2297Pro) c.6862G>C (p.Ala2288Pro) c.6847G>C (p.Ala2283Pro) c.6868G>C (p.Ala2290Pro) c.6844G>C (p.Ala2282Pro) | |
9 | g.128632250G>T | CA375098416 | SPTAN1 | c.6922G>T (p.Ala2308Ser) c.6949G>T (p.Ala2317Ser) c.6973G>T (p.Ala2325Ser) c.6412G>T (p.Ala2138Ser) c.4491G>T c.2828G>T c.6886G>T (p.Ala2296Ser) n.610G>T c.6811G>T (p.Ala2271Ser) c.6871G>T (p.Ala2291Ser) n.840G>T n.643G>T c.6826G>T (p.Ala2276Ser) c.6985G>T (p.Ala2329Ser) c.6970G>T (p.Ala2324Ser) c.6925G>T (p.Ala2309Ser) c.6907G>T (p.Ala2303Ser) c.6904G>T (p.Ala2302Ser) c.6889G>T (p.Ala2297Ser) c.6862G>T (p.Ala2288Ser) c.6847G>T (p.Ala2283Ser) c.6868G>T (p.Ala2290Ser) c.6844G>T (p.Ala2282Ser) | |
9 | g.128632251C>A | CA375098418 | SPTAN1 | c.6923C>A (p.Ala2308Asp) c.6950C>A (p.Ala2317Asp) c.6974C>A (p.Ala2325Asp) c.6413C>A (p.Ala2138Asp) c.4492C>A c.2829C>A c.6887C>A (p.Ala2296Asp) n.611C>A c.6812C>A (p.Ala2271Asp) c.6872C>A (p.Ala2291Asp) n.841C>A n.644C>A c.6827C>A (p.Ala2276Asp) c.6986C>A (p.Ala2329Asp) c.6971C>A (p.Ala2324Asp) c.6926C>A (p.Ala2309Asp) c.6908C>A (p.Ala2303Asp) c.6905C>A (p.Ala2302Asp) c.6890C>A (p.Ala2297Asp) c.6863C>A (p.Ala2288Asp) c.6848C>A (p.Ala2283Asp) c.6869C>A (p.Ala2290Asp) c.6845C>A (p.Ala2282Asp) | |
9 | g.128632251C>G | CA375098423 | SPTAN1 | c.6923C>G (p.Ala2308Gly) c.6950C>G (p.Ala2317Gly) c.6974C>G (p.Ala2325Gly) c.6413C>G (p.Ala2138Gly) c.4492C>G c.2829C>G c.6887C>G (p.Ala2296Gly) n.611C>G c.6812C>G (p.Ala2271Gly) c.6872C>G (p.Ala2291Gly) n.841C>G n.644C>G c.6827C>G (p.Ala2276Gly) c.6986C>G (p.Ala2329Gly) c.6971C>G (p.Ala2324Gly) c.6926C>G (p.Ala2309Gly) c.6908C>G (p.Ala2303Gly) c.6905C>G (p.Ala2302Gly) c.6890C>G (p.Ala2297Gly) c.6863C>G (p.Ala2288Gly) c.6848C>G (p.Ala2283Gly) c.6869C>G (p.Ala2290Gly) c.6845C>G (p.Ala2282Gly) | |
9 | g.128632251C>T | CA375098420 | SPTAN1 | c.6923C>T (p.Ala2308Val) c.6950C>T (p.Ala2317Val) c.6974C>T (p.Ala2325Val) c.6413C>T (p.Ala2138Val) c.4492C>T c.2829C>T c.6887C>T (p.Ala2296Val) n.611C>T c.6812C>T (p.Ala2271Val) c.6872C>T (p.Ala2291Val) n.841C>T n.644C>T c.6827C>T (p.Ala2276Val) c.6986C>T (p.Ala2329Val) c.6971C>T (p.Ala2324Val) c.6926C>T (p.Ala2309Val) c.6908C>T (p.Ala2303Val) c.6905C>T (p.Ala2302Val) c.6890C>T (p.Ala2297Val) c.6863C>T (p.Ala2288Val) c.6848C>T (p.Ala2283Val) c.6869C>T (p.Ala2290Val) c.6845C>T (p.Ala2282Val) | ClinVar dbSNP |
9 | g.128632252C>A | CA467304847 | SPTAN1 | c.6924C>A (p.Ala2308=) c.6951C>A (p.Ala2317=) c.6975C>A (p.Ala2325=) c.6414C>A (p.Ala2138=) c.4493C>A c.2830C>A c.6888C>A (p.Ala2296=) n.612C>A c.6813C>A (p.Ala2271=) c.6873C>A (p.Ala2291=) n.842C>A n.645C>A c.6828C>A (p.Ala2276=) c.6987C>A (p.Ala2329=) c.6972C>A (p.Ala2324=) c.6927C>A (p.Ala2309=) c.6909C>A (p.Ala2303=) c.6906C>A (p.Ala2302=) c.6891C>A (p.Ala2297=) c.6864C>A (p.Ala2288=) c.6849C>A (p.Ala2283=) c.6870C>A (p.Ala2290=) c.6846C>A (p.Ala2282=) | |
9 | g.128632252C>G | CA467304848 | SPTAN1 | c.6924C>G (p.Ala2308=) c.6951C>G (p.Ala2317=) c.6975C>G (p.Ala2325=) c.6414C>G (p.Ala2138=) c.4493C>G c.2830C>G c.6888C>G (p.Ala2296=) n.612C>G c.6813C>G (p.Ala2271=) c.6873C>G (p.Ala2291=) n.842C>G n.645C>G c.6828C>G (p.Ala2276=) c.6987C>G (p.Ala2329=) c.6972C>G (p.Ala2324=) c.6927C>G (p.Ala2309=) c.6909C>G (p.Ala2303=) c.6906C>G (p.Ala2302=) c.6891C>G (p.Ala2297=) c.6864C>G (p.Ala2288=) c.6849C>G (p.Ala2283=) c.6870C>G (p.Ala2290=) c.6846C>G (p.Ala2282=) | |
9 | g.128632252C>T | CA467304846 | SPTAN1 | c.6924C>T (p.Ala2308=) c.6951C>T (p.Ala2317=) c.6975C>T (p.Ala2325=) c.6414C>T (p.Ala2138=) c.4493C>T c.2830C>T c.6888C>T (p.Ala2296=) n.612C>T c.6813C>T (p.Ala2271=) c.6873C>T (p.Ala2291=) n.842C>T n.645C>T c.6828C>T (p.Ala2276=) c.6987C>T (p.Ala2329=) c.6972C>T (p.Ala2324=) c.6927C>T (p.Ala2309=) c.6909C>T (p.Ala2303=) c.6906C>T (p.Ala2302=) c.6891C>T (p.Ala2297=) c.6864C>T (p.Ala2288=) c.6849C>T (p.Ala2283=) c.6870C>T (p.Ala2290=) c.6846C>T (p.Ala2282=) | ClinVar dbSNP gnomAD v4 |
9 | g.128632253C>A | CA375098425 | SPTAN1 | c.6925C>A (p.Gln2309Lys) c.6952C>A (p.Gln2318Lys) c.6976C>A (p.Gln2326Lys) c.6415C>A (p.Gln2139Lys) c.4494C>A c.2831C>A c.6889C>A (p.Gln2297Lys) n.613C>A c.6814C>A (p.Gln2272Lys) c.6874C>A (p.Gln2292Lys) n.843C>A n.646C>A c.6829C>A (p.Gln2277Lys) c.6988C>A (p.Gln2330Lys) c.6973C>A (p.Gln2325Lys) c.6928C>A (p.Gln2310Lys) c.6910C>A (p.Gln2304Lys) c.6907C>A (p.Gln2303Lys) c.6892C>A (p.Gln2298Lys) c.6865C>A (p.Gln2289Lys) c.6850C>A (p.Gln2284Lys) c.6871C>A (p.Gln2291Lys) c.6847C>A (p.Gln2283Lys) | |
9 | g.128632253C>G | CA375098436 | SPTAN1 | c.6925C>G (p.Gln2309Glu) c.6952C>G (p.Gln2318Glu) c.6976C>G (p.Gln2326Glu) c.6415C>G (p.Gln2139Glu) c.4494C>G c.2831C>G c.6889C>G (p.Gln2297Glu) n.613C>G c.6814C>G (p.Gln2272Glu) c.6874C>G (p.Gln2292Glu) n.843C>G n.646C>G c.6829C>G (p.Gln2277Glu) c.6988C>G (p.Gln2330Glu) c.6973C>G (p.Gln2325Glu) c.6928C>G (p.Gln2310Glu) c.6910C>G (p.Gln2304Glu) c.6907C>G (p.Gln2303Glu) c.6892C>G (p.Gln2298Glu) c.6865C>G (p.Gln2289Glu) c.6850C>G (p.Gln2284Glu) c.6871C>G (p.Gln2291Glu) c.6847C>G (p.Gln2283Glu) | |
9 | g.128632253C>T | CA375098439 | SPTAN1 | c.6925C>T (p.Gln2309Ter) c.6952C>T (p.Gln2318Ter) c.6976C>T (p.Gln2326Ter) c.6415C>T (p.Gln2139Ter) c.4494C>T c.2831C>T c.6889C>T (p.Gln2297Ter) n.613C>T c.6814C>T (p.Gln2272Ter) c.6874C>T (p.Gln2292Ter) n.843C>T n.646C>T c.6829C>T (p.Gln2277Ter) c.6988C>T (p.Gln2330Ter) c.6973C>T (p.Gln2325Ter) c.6928C>T (p.Gln2310Ter) c.6910C>T (p.Gln2304Ter) c.6907C>T (p.Gln2303Ter) c.6892C>T (p.Gln2298Ter) c.6865C>T (p.Gln2289Ter) c.6850C>T (p.Gln2284Ter) c.6871C>T (p.Gln2291Ter) c.6847C>T (p.Gln2283Ter) | |
9 | g.128632254A>C | CA375098440 | SPTAN1 | c.6926A>C (p.Gln2309Pro) c.6953A>C (p.Gln2318Pro) c.6977A>C (p.Gln2326Pro) c.6416A>C (p.Gln2139Pro) c.4495A>C c.2832A>C c.6890A>C (p.Gln2297Pro) n.614A>C c.6815A>C (p.Gln2272Pro) c.6875A>C (p.Gln2292Pro) n.844A>C n.647A>C c.6830A>C (p.Gln2277Pro) c.6989A>C (p.Gln2330Pro) c.6974A>C (p.Gln2325Pro) c.6929A>C (p.Gln2310Pro) c.6911A>C (p.Gln2304Pro) c.6908A>C (p.Gln2303Pro) c.6893A>C (p.Gln2298Pro) c.6866A>C (p.Gln2289Pro) c.6851A>C (p.Gln2284Pro) c.6872A>C (p.Gln2291Pro) c.6848A>C (p.Gln2283Pro) | |
9 | g.128632254A>G | CA375098441 | SPTAN1 | c.6926A>G (p.Gln2309Arg) c.6953A>G (p.Gln2318Arg) c.6977A>G (p.Gln2326Arg) c.6416A>G (p.Gln2139Arg) c.4495A>G c.2832A>G c.6890A>G (p.Gln2297Arg) n.614A>G c.6815A>G (p.Gln2272Arg) c.6875A>G (p.Gln2292Arg) n.844A>G n.647A>G c.6830A>G (p.Gln2277Arg) c.6989A>G (p.Gln2330Arg) c.6974A>G (p.Gln2325Arg) c.6929A>G (p.Gln2310Arg) c.6911A>G (p.Gln2304Arg) c.6908A>G (p.Gln2303Arg) c.6893A>G (p.Gln2298Arg) c.6866A>G (p.Gln2289Arg) c.6851A>G (p.Gln2284Arg) c.6872A>G (p.Gln2291Arg) c.6848A>G (p.Gln2283Arg) | |
9 | g.128632254A>T | CA375098445 | SPTAN1 | c.6926A>T (p.Gln2309Leu) c.6953A>T (p.Gln2318Leu) c.6977A>T (p.Gln2326Leu) c.6416A>T (p.Gln2139Leu) c.4495A>T c.2832A>T c.6890A>T (p.Gln2297Leu) n.614A>T c.6815A>T (p.Gln2272Leu) c.6875A>T (p.Gln2292Leu) n.844A>T n.647A>T c.6830A>T (p.Gln2277Leu) c.6989A>T (p.Gln2330Leu) c.6974A>T (p.Gln2325Leu) c.6929A>T (p.Gln2310Leu) c.6911A>T (p.Gln2304Leu) c.6908A>T (p.Gln2303Leu) c.6893A>T (p.Gln2298Leu) c.6866A>T (p.Gln2289Leu) c.6851A>T (p.Gln2284Leu) c.6872A>T (p.Gln2291Leu) c.6848A>T (p.Gln2283Leu) | |
9 | g.128632255G>A | CA200412398 | SPTAN1 | c.6927G>A (p.Gln2309=) c.6954G>A (p.Gln2318=) c.6978G>A (p.Gln2326=) c.6417G>A (p.Gln2139=) c.4496G>A c.2833G>A c.6891G>A (p.Gln2297=) n.615G>A c.6816G>A (p.Gln2272=) c.6876G>A (p.Gln2292=) n.845G>A n.648G>A c.6831G>A (p.Gln2277=) c.6990G>A (p.Gln2330=) c.6975G>A (p.Gln2325=) c.6930G>A (p.Gln2310=) c.6912G>A (p.Gln2304=) c.6909G>A (p.Gln2303=) c.6894G>A (p.Gln2298=) c.6867G>A (p.Gln2289=) c.6852G>A (p.Gln2284=) c.6873G>A (p.Gln2291=) c.6849G>A (p.Gln2283=) | dbSNP |
9 | g.128632255G>C | CA375098451 | SPTAN1 | c.6927G>C (p.Gln2309His) c.6954G>C (p.Gln2318His) c.6978G>C (p.Gln2326His) c.6417G>C (p.Gln2139His) c.4496G>C c.2833G>C c.6891G>C (p.Gln2297His) n.615G>C c.6816G>C (p.Gln2272His) c.6876G>C (p.Gln2292His) n.845G>C n.648G>C c.6831G>C (p.Gln2277His) c.6990G>C (p.Gln2330His) c.6975G>C (p.Gln2325His) c.6930G>C (p.Gln2310His) c.6912G>C (p.Gln2304His) c.6909G>C (p.Gln2303His) c.6894G>C (p.Gln2298His) c.6867G>C (p.Gln2289His) c.6852G>C (p.Gln2284His) c.6873G>C (p.Gln2291His) c.6849G>C (p.Gln2283His) | |
9 | g.128632255G= | CA1880371259 | SPTAN1 | c.6927G= (p.Gln2309=) c.6954G= (p.Gln2318=) c.6978G= (p.Gln2326=) c.6417G= (p.Gln2139=) c.4496G= c.2833G= c.6891G= (p.Gln2297=) n.615G= c.6816G= (p.Gln2272=) c.6876G= (p.Gln2292=) n.845G= n.648G= c.6831G= (p.Gln2277=) c.6990G= (p.Gln2330=) c.6975G= (p.Gln2325=) c.6930G= (p.Gln2310=) c.6912G= (p.Gln2304=) c.6909G= (p.Gln2303=) c.6894G= (p.Gln2298=) c.6867G= (p.Gln2289=) c.6852G= (p.Gln2284=) c.6873G= (p.Gln2291=) c.6849G= (p.Gln2283=) | |
9 | g.128632255G>T | CA375098454 | SPTAN1 | c.6927G>T (p.Gln2309His) c.6954G>T (p.Gln2318His) c.6978G>T (p.Gln2326His) c.6417G>T (p.Gln2139His) c.4496G>T c.2833G>T c.6891G>T (p.Gln2297His) n.615G>T c.6816G>T (p.Gln2272His) c.6876G>T (p.Gln2292His) n.845G>T n.648G>T c.6831G>T (p.Gln2277His) c.6990G>T (p.Gln2330His) c.6975G>T (p.Gln2325His) c.6930G>T (p.Gln2310His) c.6912G>T (p.Gln2304His) c.6909G>T (p.Gln2303His) c.6894G>T (p.Gln2298His) c.6867G>T (p.Gln2289His) c.6852G>T (p.Gln2284His) c.6873G>T (p.Gln2291His) c.6849G>T (p.Gln2283His) | |
9 | g.128632256C>A | CA375098461 | SPTAN1 | c.6928C>A (p.Gln2310Lys) c.6955C>A (p.Gln2319Lys) c.6979C>A (p.Gln2327Lys) c.6418C>A (p.Gln2140Lys) c.4497C>A c.2834C>A c.6892C>A (p.Gln2298Lys) n.616C>A c.6817C>A (p.Gln2273Lys) c.6877C>A (p.Gln2293Lys) n.846C>A n.649C>A c.6832C>A (p.Gln2278Lys) c.6991C>A (p.Gln2331Lys) c.6976C>A (p.Gln2326Lys) c.6931C>A (p.Gln2311Lys) c.6913C>A (p.Gln2305Lys) c.6910C>A (p.Gln2304Lys) c.6895C>A (p.Gln2299Lys) c.6868C>A (p.Gln2290Lys) c.6853C>A (p.Gln2285Lys) c.6874C>A (p.Gln2292Lys) c.6850C>A (p.Gln2284Lys) | |
9 | g.128632256C>G | CA375098464 | SPTAN1 | c.6928C>G (p.Gln2310Glu) c.6955C>G (p.Gln2319Glu) c.6979C>G (p.Gln2327Glu) c.6418C>G (p.Gln2140Glu) c.4497C>G c.2834C>G c.6892C>G (p.Gln2298Glu) n.616C>G c.6817C>G (p.Gln2273Glu) c.6877C>G (p.Gln2293Glu) n.846C>G n.649C>G c.6832C>G (p.Gln2278Glu) c.6991C>G (p.Gln2331Glu) c.6976C>G (p.Gln2326Glu) c.6931C>G (p.Gln2311Glu) c.6913C>G (p.Gln2305Glu) c.6910C>G (p.Gln2304Glu) c.6895C>G (p.Gln2299Glu) c.6868C>G (p.Gln2290Glu) c.6853C>G (p.Gln2285Glu) c.6874C>G (p.Gln2292Glu) c.6850C>G (p.Gln2284Glu) | ClinVar gnomAD v4 |
9 | g.128632256C>T | CA375098466 | SPTAN1 | c.6928C>T (p.Gln2310Ter) c.6955C>T (p.Gln2319Ter) c.6979C>T (p.Gln2327Ter) c.6418C>T (p.Gln2140Ter) c.4497C>T c.2834C>T c.6892C>T (p.Gln2298Ter) n.616C>T c.6817C>T (p.Gln2273Ter) c.6877C>T (p.Gln2293Ter) n.846C>T n.649C>T c.6832C>T (p.Gln2278Ter) c.6991C>T (p.Gln2331Ter) c.6976C>T (p.Gln2326Ter) c.6931C>T (p.Gln2311Ter) c.6913C>T (p.Gln2305Ter) c.6910C>T (p.Gln2304Ter) c.6895C>T (p.Gln2299Ter) c.6868C>T (p.Gln2290Ter) c.6853C>T (p.Gln2285Ter) c.6874C>T (p.Gln2292Ter) c.6850C>T (p.Gln2284Ter) | |
9 | g.128632257A>C | CA375098468 | SPTAN1 | c.6929A>C (p.Gln2310Pro) c.6956A>C (p.Gln2319Pro) c.6980A>C (p.Gln2327Pro) c.6419A>C (p.Gln2140Pro) c.4498A>C c.2835A>C c.6893A>C (p.Gln2298Pro) n.617A>C c.6818A>C (p.Gln2273Pro) c.6878A>C (p.Gln2293Pro) n.847A>C n.650A>C c.6833A>C (p.Gln2278Pro) c.6992A>C (p.Gln2331Pro) c.6977A>C (p.Gln2326Pro) c.6932A>C (p.Gln2311Pro) c.6914A>C (p.Gln2305Pro) c.6911A>C (p.Gln2304Pro) c.6896A>C (p.Gln2299Pro) c.6869A>C (p.Gln2290Pro) c.6854A>C (p.Gln2285Pro) c.6875A>C (p.Gln2292Pro) c.6851A>C (p.Gln2284Pro) | |
9 | g.128632257A>G | CA375098469 | SPTAN1 | c.6929A>G (p.Gln2310Arg) c.6956A>G (p.Gln2319Arg) c.6980A>G (p.Gln2327Arg) c.6419A>G (p.Gln2140Arg) c.4498A>G c.2835A>G c.6893A>G (p.Gln2298Arg) n.617A>G c.6818A>G (p.Gln2273Arg) c.6878A>G (p.Gln2293Arg) n.847A>G n.650A>G c.6833A>G (p.Gln2278Arg) c.6992A>G (p.Gln2331Arg) c.6977A>G (p.Gln2326Arg) c.6932A>G (p.Gln2311Arg) c.6914A>G (p.Gln2305Arg) c.6911A>G (p.Gln2304Arg) c.6896A>G (p.Gln2299Arg) c.6869A>G (p.Gln2290Arg) c.6854A>G (p.Gln2285Arg) c.6875A>G (p.Gln2292Arg) c.6851A>G (p.Gln2284Arg) | |
9 | g.128632257A>T | CA375098473 | SPTAN1 | c.6929A>T (p.Gln2310Leu) c.6956A>T (p.Gln2319Leu) c.6980A>T (p.Gln2327Leu) c.6419A>T (p.Gln2140Leu) c.4498A>T c.2835A>T c.6893A>T (p.Gln2298Leu) n.617A>T c.6818A>T (p.Gln2273Leu) c.6878A>T (p.Gln2293Leu) n.847A>T n.650A>T c.6833A>T (p.Gln2278Leu) c.6992A>T (p.Gln2331Leu) c.6977A>T (p.Gln2326Leu) c.6932A>T (p.Gln2311Leu) c.6914A>T (p.Gln2305Leu) c.6911A>T (p.Gln2304Leu) c.6896A>T (p.Gln2299Leu) c.6869A>T (p.Gln2290Leu) c.6854A>T (p.Gln2285Leu) c.6875A>T (p.Gln2292Leu) c.6851A>T (p.Gln2284Leu) | |
9 | g.128632258G>A | CA467304849 | SPTAN1 | c.6930G>A (p.Gln2310=) c.6957G>A (p.Gln2319=) c.6981G>A (p.Gln2327=) c.6420G>A (p.Gln2140=) c.4499G>A c.2836G>A c.6894G>A (p.Gln2298=) n.618G>A c.6819G>A (p.Gln2273=) c.6879G>A (p.Gln2293=) n.848G>A n.651G>A c.6834G>A (p.Gln2278=) c.6993G>A (p.Gln2331=) c.6978G>A (p.Gln2326=) c.6933G>A (p.Gln2311=) c.6915G>A (p.Gln2305=) c.6912G>A (p.Gln2304=) c.6897G>A (p.Gln2299=) c.6870G>A (p.Gln2290=) c.6855G>A (p.Gln2285=) c.6876G>A (p.Gln2292=) c.6852G>A (p.Gln2284=) | dbSNP gnomAD v4 |
9 | g.128632258G>C | CA375098481 | SPTAN1 | c.6930G>C (p.Gln2310His) c.6957G>C (p.Gln2319His) c.6981G>C (p.Gln2327His) c.6420G>C (p.Gln2140His) c.4499G>C c.2836G>C c.6894G>C (p.Gln2298His) n.618G>C c.6819G>C (p.Gln2273His) c.6879G>C (p.Gln2293His) n.848G>C n.651G>C c.6834G>C (p.Gln2278His) c.6993G>C (p.Gln2331His) c.6978G>C (p.Gln2326His) c.6933G>C (p.Gln2311His) c.6915G>C (p.Gln2305His) c.6912G>C (p.Gln2304His) c.6897G>C (p.Gln2299His) c.6870G>C (p.Gln2290His) c.6855G>C (p.Gln2285His) c.6876G>C (p.Gln2292His) c.6852G>C (p.Gln2284His) | |
9 | g.128632258G= | CA1880371260 | SPTAN1 | c.6930G= (p.Gln2310=) c.6957G= (p.Gln2319=) c.6981G= (p.Gln2327=) c.6420G= (p.Gln2140=) c.4499G= c.2836G= c.6894G= (p.Gln2298=) n.618G= c.6819G= (p.Gln2273=) c.6879G= (p.Gln2293=) n.848G= n.651G= c.6834G= (p.Gln2278=) c.6993G= (p.Gln2331=) c.6978G= (p.Gln2326=) c.6933G= (p.Gln2311=) c.6915G= (p.Gln2305=) c.6912G= (p.Gln2304=) c.6897G= (p.Gln2299=) c.6870G= (p.Gln2290=) c.6855G= (p.Gln2285=) c.6876G= (p.Gln2292=) c.6852G= (p.Gln2284=) | |
9 | g.128632258G>T | CA375098478 | SPTAN1 | c.6930G>T (p.Gln2310His) c.6957G>T (p.Gln2319His) c.6981G>T (p.Gln2327His) c.6420G>T (p.Gln2140His) c.4499G>T c.2836G>T c.6894G>T (p.Gln2298His) n.618G>T c.6819G>T (p.Gln2273His) c.6879G>T (p.Gln2293His) n.848G>T n.651G>T c.6834G>T (p.Gln2278His) c.6993G>T (p.Gln2331His) c.6978G>T (p.Gln2326His) c.6933G>T (p.Gln2311His) c.6915G>T (p.Gln2305His) c.6912G>T (p.Gln2304His) c.6897G>T (p.Gln2299His) c.6870G>T (p.Gln2290His) c.6855G>T (p.Gln2285His) c.6876G>T (p.Gln2292His) c.6852G>T (p.Gln2284His) | |
9 | g.128632259T>A | CA375098483 | SPTAN1 | c.6931T>A (p.Trp2311Arg) c.6958T>A (p.Trp2320Arg) c.6982T>A (p.Trp2328Arg) c.6421T>A (p.Trp2141Arg) c.4500T>A c.2837T>A c.6895T>A (p.Trp2299Arg) n.619T>A c.6820T>A (p.Trp2274Arg) c.6880T>A (p.Trp2294Arg) n.849T>A n.652T>A c.6835T>A (p.Trp2279Arg) c.6994T>A (p.Trp2332Arg) c.6979T>A (p.Trp2327Arg) c.6934T>A (p.Trp2312Arg) c.6916T>A (p.Trp2306Arg) c.6913T>A (p.Trp2305Arg) c.6898T>A (p.Trp2300Arg) c.6871T>A (p.Trp2291Arg) c.6856T>A (p.Trp2286Arg) c.6877T>A (p.Trp2293Arg) c.6853T>A (p.Trp2285Arg) | |
9 | g.128632259T>C | CA375098491 | SPTAN1 | c.6931T>C (p.Trp2311Arg) c.6958T>C (p.Trp2320Arg) c.6982T>C (p.Trp2328Arg) c.6421T>C (p.Trp2141Arg) c.4500T>C c.2837T>C c.6895T>C (p.Trp2299Arg) n.619T>C c.6820T>C (p.Trp2274Arg) c.6880T>C (p.Trp2294Arg) n.849T>C n.652T>C c.6835T>C (p.Trp2279Arg) c.6994T>C (p.Trp2332Arg) c.6979T>C (p.Trp2327Arg) c.6934T>C (p.Trp2312Arg) c.6916T>C (p.Trp2306Arg) c.6913T>C (p.Trp2305Arg) c.6898T>C (p.Trp2300Arg) c.6871T>C (p.Trp2291Arg) c.6856T>C (p.Trp2286Arg) c.6877T>C (p.Trp2293Arg) c.6853T>C (p.Trp2285Arg) | ClinVar dbSNP |
9 | g.128632259T>G | CA375098492 | SPTAN1 | c.6931T>G (p.Trp2311Gly) c.6958T>G (p.Trp2320Gly) c.6982T>G (p.Trp2328Gly) c.6421T>G (p.Trp2141Gly) c.4500T>G c.2837T>G c.6895T>G (p.Trp2299Gly) n.619T>G c.6820T>G (p.Trp2274Gly) c.6880T>G (p.Trp2294Gly) n.849T>G n.652T>G c.6835T>G (p.Trp2279Gly) c.6994T>G (p.Trp2332Gly) c.6979T>G (p.Trp2327Gly) c.6934T>G (p.Trp2312Gly) c.6916T>G (p.Trp2306Gly) c.6913T>G (p.Trp2305Gly) c.6898T>G (p.Trp2300Gly) c.6871T>G (p.Trp2291Gly) c.6856T>G (p.Trp2286Gly) c.6877T>G (p.Trp2293Gly) c.6853T>G (p.Trp2285Gly) | |
9 | g.128632260G>A | CA375098495 | SPTAN1 | c.6932G>A (p.Trp2311Ter) c.6959G>A (p.Trp2320Ter) c.6983G>A (p.Trp2328Ter) c.6422G>A (p.Trp2141Ter) c.4501G>A c.2838G>A c.6896G>A (p.Trp2299Ter) n.620G>A c.6821G>A (p.Trp2274Ter) c.6881G>A (p.Trp2294Ter) n.850G>A n.653G>A c.6836G>A (p.Trp2279Ter) c.6995G>A (p.Trp2332Ter) c.6980G>A (p.Trp2327Ter) c.6935G>A (p.Trp2312Ter) c.6917G>A (p.Trp2306Ter) c.6914G>A (p.Trp2305Ter) c.6899G>A (p.Trp2300Ter) c.6872G>A (p.Trp2291Ter) c.6857G>A (p.Trp2286Ter) c.6878G>A (p.Trp2293Ter) c.6854G>A (p.Trp2285Ter) | |
9 | g.128632260G>C | CA375098496 | SPTAN1 | c.6932G>C (p.Trp2311Ser) c.6959G>C (p.Trp2320Ser) c.6983G>C (p.Trp2328Ser) c.6422G>C (p.Trp2141Ser) c.4501G>C c.2838G>C c.6896G>C (p.Trp2299Ser) n.620G>C c.6821G>C (p.Trp2274Ser) c.6881G>C (p.Trp2294Ser) n.850G>C n.653G>C c.6836G>C (p.Trp2279Ser) c.6995G>C (p.Trp2332Ser) c.6980G>C (p.Trp2327Ser) c.6935G>C (p.Trp2312Ser) c.6917G>C (p.Trp2306Ser) c.6914G>C (p.Trp2305Ser) c.6899G>C (p.Trp2300Ser) c.6872G>C (p.Trp2291Ser) c.6857G>C (p.Trp2286Ser) c.6878G>C (p.Trp2293Ser) c.6854G>C (p.Trp2285Ser) | |
9 | g.128632260G>T | CA375098499 | SPTAN1 | c.6932G>T (p.Trp2311Leu) c.6959G>T (p.Trp2320Leu) c.6983G>T (p.Trp2328Leu) c.6422G>T (p.Trp2141Leu) c.4501G>T c.2838G>T c.6896G>T (p.Trp2299Leu) n.620G>T c.6821G>T (p.Trp2274Leu) c.6881G>T (p.Trp2294Leu) n.850G>T n.653G>T c.6836G>T (p.Trp2279Leu) c.6995G>T (p.Trp2332Leu) c.6980G>T (p.Trp2327Leu) c.6935G>T (p.Trp2312Leu) c.6917G>T (p.Trp2306Leu) c.6914G>T (p.Trp2305Leu) c.6899G>T (p.Trp2300Leu) c.6872G>T (p.Trp2291Leu) c.6857G>T (p.Trp2286Leu) c.6878G>T (p.Trp2293Leu) c.6854G>T (p.Trp2285Leu) | |
9 | g.128632262del | CA2691941339 | SPTAN1 | c.6934del (p.Asp2312ThrfsTer26) c.6961del (p.Asp2321ThrfsTer26) c.6985del (p.Asp2329ThrfsTer26) c.6424del (p.Asp2142ThrfsTer26) c.4503del c.2840del c.6898del (p.Asp2300ThrfsTer26) n.622del c.6823del (p.Asp2275ThrfsTer26) c.6883del (p.Asp2295ThrfsTer26) n.852del n.655del c.6838del (p.Asp2280ThrfsTer26) c.6997del (p.Asp2333ThrfsTer26) c.6982del (p.Asp2328ThrfsTer26) c.6937del (p.Asp2313ThrfsTer26) c.6919del (p.Asp2307ThrfsTer26) c.6916del (p.Asp2306ThrfsTer26) c.6901del (p.Asp2301ThrfsTer26) c.6874del (p.Asp2292ThrfsTer26) c.6859del (p.Asp2287ThrfsTer26) c.6880del (p.Asp2294ThrfsTer26) c.6856del (p.Asp2286ThrfsTer26) | gnomAD v4 |
9 | g.128632260_128632268del | CA2580079751 | SPTAN1 | c.6932_6940del (p.Trp2311_Gln2313del) c.6959_6967del (p.Trp2320_Gln2322del) c.6983_6991del (p.Trp2328_Gln2330del) c.6422_6430del (p.Trp2141_Gln2143del) c.4501_4509del c.2838_2846del c.6896_6904del (p.Trp2299_Gln2301del) n.620_628del c.6821_6829del (p.Trp2274_Gln2276del) c.6881_6889del (p.Trp2294_Gln2296del) n.850_858del n.653_661del c.6836_6844del (p.Trp2279_Gln2281del) c.6995_7003del (p.Trp2332_Gln2334del) c.6980_6988del (p.Trp2327_Gln2329del) c.6935_6943del (p.Trp2312_Gln2314del) c.6917_6925del (p.Trp2306_Gln2308del) c.6914_6922del (p.Trp2305_Gln2307del) c.6899_6907del (p.Trp2300_Gln2302del) c.6872_6880del (p.Trp2291_Gln2293del) c.6857_6865del (p.Trp2286_Gln2288del) c.6878_6886del (p.Trp2293_Gln2295del) c.6854_6862del (p.Trp2285_Gln2287del) | ClinVar |
9 | g.128632260_128632269delinsGGGACCAGCT | CA1880371261 | SPTAN1 | c.6932_6941delinsGGGACCAGCT (p.Trp2311=) c.6959_6968delinsGGGACCAGCT (p.Trp2320=) c.6983_6992delinsGGGACCAGCT (p.Trp2328=) c.6422_6431delinsGGGACCAGCT (p.Trp2141=) c.4501_4510delinsGGGACCAGCT c.2838_2847delinsGGGACCAGCT c.6896_6905delinsGGGACCAGCT (p.Trp2299=) n.620_629delinsGGGACCAGCT c.6821_6830delinsGGGACCAGCT (p.Trp2274=) c.6881_6890delinsGGGACCAGCT (p.Trp2294=) n.850_859delinsGGGACCAGCT n.653_662delinsGGGACCAGCT c.6836_6845delinsGGGACCAGCT (p.Trp2279=) c.6995_7004delinsGGGACCAGCT (p.Trp2332=) c.6980_6989delinsGGGACCAGCT (p.Trp2327=) c.6935_6944delinsGGGACCAGCT (p.Trp2312=) c.6917_6926delinsGGGACCAGCT (p.Trp2306=) c.6914_6923delinsGGGACCAGCT (p.Trp2305=) c.6899_6908delinsGGGACCAGCT (p.Trp2300=) c.6872_6881delinsGGGACCAGCT (p.Trp2291=) c.6857_6866delinsGGGACCAGCT (p.Trp2286=) c.6878_6887delinsGGGACCAGCT (p.Trp2293=) c.6854_6863delinsGGGACCAGCT (p.Trp2285=) | |
9 | g.128632261G>A | CA375098509 | SPTAN1 | c.6933G>A (p.Trp2311Ter) c.6960G>A (p.Trp2320Ter) c.6984G>A (p.Trp2328Ter) c.6423G>A (p.Trp2141Ter) c.4502G>A c.2839G>A c.6897G>A (p.Trp2299Ter) n.621G>A c.6822G>A (p.Trp2274Ter) c.6882G>A (p.Trp2294Ter) n.851G>A n.654G>A c.6837G>A (p.Trp2279Ter) c.6996G>A (p.Trp2332Ter) c.6981G>A (p.Trp2327Ter) c.6936G>A (p.Trp2312Ter) c.6918G>A (p.Trp2306Ter) c.6915G>A (p.Trp2305Ter) c.6900G>A (p.Trp2300Ter) c.6873G>A (p.Trp2291Ter) c.6858G>A (p.Trp2286Ter) c.6879G>A (p.Trp2293Ter) c.6855G>A (p.Trp2285Ter) | |
9 | g.128632261G>C | CA375098512 | SPTAN1 | c.6933G>C (p.Trp2311Cys) c.6960G>C (p.Trp2320Cys) c.6984G>C (p.Trp2328Cys) c.6423G>C (p.Trp2141Cys) c.4502G>C c.2839G>C c.6897G>C (p.Trp2299Cys) n.621G>C c.6822G>C (p.Trp2274Cys) c.6882G>C (p.Trp2294Cys) n.851G>C n.654G>C c.6837G>C (p.Trp2279Cys) c.6996G>C (p.Trp2332Cys) c.6981G>C (p.Trp2327Cys) c.6936G>C (p.Trp2312Cys) c.6918G>C (p.Trp2306Cys) c.6915G>C (p.Trp2305Cys) c.6900G>C (p.Trp2300Cys) c.6873G>C (p.Trp2291Cys) c.6858G>C (p.Trp2286Cys) c.6879G>C (p.Trp2293Cys) c.6855G>C (p.Trp2285Cys) | |
9 | g.128632261G>T | CA375098513 | SPTAN1 | c.6933G>T (p.Trp2311Cys) c.6960G>T (p.Trp2320Cys) c.6984G>T (p.Trp2328Cys) c.6423G>T (p.Trp2141Cys) c.4502G>T c.2839G>T c.6897G>T (p.Trp2299Cys) n.621G>T c.6822G>T (p.Trp2274Cys) c.6882G>T (p.Trp2294Cys) n.851G>T n.654G>T c.6837G>T (p.Trp2279Cys) c.6996G>T (p.Trp2332Cys) c.6981G>T (p.Trp2327Cys) c.6936G>T (p.Trp2312Cys) c.6918G>T (p.Trp2306Cys) c.6915G>T (p.Trp2305Cys) c.6900G>T (p.Trp2300Cys) c.6873G>T (p.Trp2291Cys) c.6858G>T (p.Trp2286Cys) c.6879G>T (p.Trp2293Cys) c.6855G>T (p.Trp2285Cys) | |
9 | g.128632272_128632280dup | CA173597 | SPTAN1 | c.6944_6952dup (p.Leu2317_Gly2318insAspGlnLeu) c.6971_6979dup (p.Leu2326_Gly2327insAspGlnLeu) c.6995_7003dup (p.Leu2334_Gly2335insAspGlnLeu) c.6434_6442dup (p.Leu2147_Gly2148insAspGlnLeu) c.4513_4521dup c.2850_2858dup c.6908_6916dup (p.Leu2305_Gly2306insAspGlnLeu) n.632_640dup c.6833_6841dup (p.Leu2280_Gly2281insAspGlnLeu) c.6893_6901dup (p.Leu2300_Gly2301insAspGlnLeu) n.862_870dup n.665_673dup c.6848_6856dup (p.Leu2285_Gly2286insAspGlnLeu) c.7007_7015dup (p.Leu2338_Gly2339insAspGlnLeu) c.6992_7000dup (p.Leu2333_Gly2334insAspGlnLeu) c.6947_6955dup (p.Leu2318_Gly2319insAspGlnLeu) c.6929_6937dup (p.Leu2312_Gly2313insAspGlnLeu) c.6926_6934dup (p.Leu2311_Gly2312insAspGlnLeu) c.6911_6919dup (p.Leu2306_Gly2307insAspGlnLeu) c.6884_6892dup (p.Leu2297_Gly2298insAspGlnLeu) c.6869_6877dup (p.Leu2292_Gly2293insAspGlnLeu) c.6890_6898dup (p.Leu2299_Gly2300insAspGlnLeu) c.6866_6874dup (p.Leu2291_Gly2292insAspGlnLeu) | ClinVar dbSNP |
9 | g.128632272_128632280del | CA318788 | SPTAN1 | c.6944_6952del (p.Asp2315_Leu2317del) c.6971_6979del (p.Asp2324_Leu2326del) c.6995_7003del (p.Asp2332_Leu2334del) c.6434_6442del (p.Asp2145_Leu2147del) c.4513_4521del c.2850_2858del c.6908_6916del (p.Asp2303_Leu2305del) n.632_640del c.6833_6841del (p.Asp2278_Leu2280del) c.6893_6901del (p.Asp2298_Leu2300del) n.862_870del n.665_673del c.6848_6856del (p.Asp2283_Leu2285del) c.7007_7015del (p.Asp2336_Leu2338del) c.6992_7000del (p.Asp2331_Leu2333del) c.6947_6955del (p.Asp2316_Leu2318del) c.6929_6937del (p.Asp2310_Leu2312del) c.6926_6934del (p.Asp2309_Leu2311del) c.6911_6919del (p.Asp2304_Leu2306del) c.6884_6892del (p.Asp2295_Leu2297del) c.6869_6877del (p.Asp2290_Leu2292del) c.6890_6898del (p.Asp2297_Leu2299del) c.6866_6874del (p.Asp2289_Leu2291del) | ClinVar dbSNP |
9 | g.128632262G>A | CA375098525 | SPTAN1 | c.6934G>A (p.Asp2312Asn) c.6961G>A (p.Asp2321Asn) c.6985G>A (p.Asp2329Asn) c.6424G>A (p.Asp2142Asn) c.4503G>A c.2840G>A c.6898G>A (p.Asp2300Asn) n.622G>A c.6823G>A (p.Asp2275Asn) c.6883G>A (p.Asp2295Asn) n.852G>A n.655G>A c.6838G>A (p.Asp2280Asn) c.6997G>A (p.Asp2333Asn) c.6982G>A (p.Asp2328Asn) c.6937G>A (p.Asp2313Asn) c.6919G>A (p.Asp2307Asn) c.6916G>A (p.Asp2306Asn) c.6901G>A (p.Asp2301Asn) c.6874G>A (p.Asp2292Asn) c.6859G>A (p.Asp2287Asn) c.6880G>A (p.Asp2294Asn) c.6856G>A (p.Asp2286Asn) | |
9 | g.128632262G>C | CA375098550 | SPTAN1 | c.6934G>C (p.Asp2312His) c.6961G>C (p.Asp2321His) c.6985G>C (p.Asp2329His) c.6424G>C (p.Asp2142His) c.4503G>C c.2840G>C c.6898G>C (p.Asp2300His) n.622G>C c.6823G>C (p.Asp2275His) c.6883G>C (p.Asp2295His) n.852G>C n.655G>C c.6838G>C (p.Asp2280His) c.6997G>C (p.Asp2333His) c.6982G>C (p.Asp2328His) c.6937G>C (p.Asp2313His) c.6919G>C (p.Asp2307His) c.6916G>C (p.Asp2306His) c.6901G>C (p.Asp2301His) c.6874G>C (p.Asp2292His) c.6859G>C (p.Asp2287His) c.6880G>C (p.Asp2294His) c.6856G>C (p.Asp2286His) | |
9 | g.128632262G>T | CA375098553 | SPTAN1 | c.6934G>T (p.Asp2312Tyr) c.6961G>T (p.Asp2321Tyr) c.6985G>T (p.Asp2329Tyr) c.6424G>T (p.Asp2142Tyr) c.4503G>T c.2840G>T c.6898G>T (p.Asp2300Tyr) n.622G>T c.6823G>T (p.Asp2275Tyr) c.6883G>T (p.Asp2295Tyr) n.852G>T n.655G>T c.6838G>T (p.Asp2280Tyr) c.6997G>T (p.Asp2333Tyr) c.6982G>T (p.Asp2328Tyr) c.6937G>T (p.Asp2313Tyr) c.6919G>T (p.Asp2307Tyr) c.6916G>T (p.Asp2306Tyr) c.6901G>T (p.Asp2301Tyr) c.6874G>T (p.Asp2292Tyr) c.6859G>T (p.Asp2287Tyr) c.6880G>T (p.Asp2294Tyr) c.6856G>T (p.Asp2286Tyr) | gnomAD v4 |
9 | g.128632263A= | CA1880371262 | SPTAN1 | c.6935A= (p.Asp2312=) c.6962A= (p.Asp2321=) c.6986A= (p.Asp2329=) c.6425A= (p.Asp2142=) c.4504A= c.2841A= c.6899A= (p.Asp2300=) n.623A= c.6824A= (p.Asp2275=) c.6884A= (p.Asp2295=) n.853A= n.656A= c.6839A= (p.Asp2280=) c.6998A= (p.Asp2333=) c.6983A= (p.Asp2328=) c.6938A= (p.Asp2313=) c.6920A= (p.Asp2307=) c.6917A= (p.Asp2306=) c.6902A= (p.Asp2301=) c.6875A= (p.Asp2292=) c.6860A= (p.Asp2287=) c.6881A= (p.Asp2294=) c.6857A= (p.Asp2286=) | |
9 | g.128632263A>C | CA375098562 | SPTAN1 | c.6935A>C (p.Asp2312Ala) c.6962A>C (p.Asp2321Ala) c.6986A>C (p.Asp2329Ala) c.6425A>C (p.Asp2142Ala) c.4504A>C c.2841A>C c.6899A>C (p.Asp2300Ala) n.623A>C c.6824A>C (p.Asp2275Ala) c.6884A>C (p.Asp2295Ala) n.853A>C n.656A>C c.6839A>C (p.Asp2280Ala) c.6998A>C (p.Asp2333Ala) c.6983A>C (p.Asp2328Ala) c.6938A>C (p.Asp2313Ala) c.6920A>C (p.Asp2307Ala) c.6917A>C (p.Asp2306Ala) c.6902A>C (p.Asp2301Ala) c.6875A>C (p.Asp2292Ala) c.6860A>C (p.Asp2287Ala) c.6881A>C (p.Asp2294Ala) c.6857A>C (p.Asp2286Ala) | |
9 | g.128632263A>G | CA375098558 | SPTAN1 | c.6935A>G (p.Asp2312Gly) c.6962A>G (p.Asp2321Gly) c.6986A>G (p.Asp2329Gly) c.6425A>G (p.Asp2142Gly) c.4504A>G c.2841A>G c.6899A>G (p.Asp2300Gly) n.623A>G c.6824A>G (p.Asp2275Gly) c.6884A>G (p.Asp2295Gly) n.853A>G n.656A>G c.6839A>G (p.Asp2280Gly) c.6998A>G (p.Asp2333Gly) c.6983A>G (p.Asp2328Gly) c.6938A>G (p.Asp2313Gly) c.6920A>G (p.Asp2307Gly) c.6917A>G (p.Asp2306Gly) c.6902A>G (p.Asp2301Gly) c.6875A>G (p.Asp2292Gly) c.6860A>G (p.Asp2287Gly) c.6881A>G (p.Asp2294Gly) c.6857A>G (p.Asp2286Gly) | |
9 | g.128632263A>T | CA318747 | SPTAN1 | c.6935A>T (p.Asp2312Val) c.6962A>T (p.Asp2321Val) c.6986A>T (p.Asp2329Val) c.6425A>T (p.Asp2142Val) c.4504A>T c.2841A>T c.6899A>T (p.Asp2300Val) n.623A>T c.6824A>T (p.Asp2275Val) c.6884A>T (p.Asp2295Val) n.853A>T n.656A>T c.6839A>T (p.Asp2280Val) c.6998A>T (p.Asp2333Val) c.6983A>T (p.Asp2328Val) c.6938A>T (p.Asp2313Val) c.6920A>T (p.Asp2307Val) c.6917A>T (p.Asp2306Val) c.6902A>T (p.Asp2301Val) c.6875A>T (p.Asp2292Val) c.6860A>T (p.Asp2287Val) c.6881A>T (p.Asp2294Val) c.6857A>T (p.Asp2286Val) | ClinVar dbSNP |
9 | g.128632264C>A | CA375098565 | SPTAN1 | c.6936C>A (p.Asp2312Glu) c.6963C>A (p.Asp2321Glu) c.6987C>A (p.Asp2329Glu) c.6426C>A (p.Asp2142Glu) c.4505C>A c.2842C>A c.6900C>A (p.Asp2300Glu) n.624C>A c.6825C>A (p.Asp2275Glu) c.6885C>A (p.Asp2295Glu) n.854C>A n.657C>A c.6840C>A (p.Asp2280Glu) c.6999C>A (p.Asp2333Glu) c.6984C>A (p.Asp2328Glu) c.6939C>A (p.Asp2313Glu) c.6921C>A (p.Asp2307Glu) c.6918C>A (p.Asp2306Glu) c.6903C>A (p.Asp2301Glu) c.6876C>A (p.Asp2292Glu) c.6861C>A (p.Asp2287Glu) c.6882C>A (p.Asp2294Glu) c.6858C>A (p.Asp2286Glu) | |
9 | g.128632264C>G | CA375098563 | SPTAN1 | c.6936C>G (p.Asp2312Glu) c.6963C>G (p.Asp2321Glu) c.6987C>G (p.Asp2329Glu) c.6426C>G (p.Asp2142Glu) c.4505C>G c.2842C>G c.6900C>G (p.Asp2300Glu) n.624C>G c.6825C>G (p.Asp2275Glu) c.6885C>G (p.Asp2295Glu) n.854C>G n.657C>G c.6840C>G (p.Asp2280Glu) c.6999C>G (p.Asp2333Glu) c.6984C>G (p.Asp2328Glu) c.6939C>G (p.Asp2313Glu) c.6921C>G (p.Asp2307Glu) c.6918C>G (p.Asp2306Glu) c.6903C>G (p.Asp2301Glu) c.6876C>G (p.Asp2292Glu) c.6861C>G (p.Asp2287Glu) c.6882C>G (p.Asp2294Glu) c.6858C>G (p.Asp2286Glu) | |
9 | g.128632264C>T | CA467304850 | SPTAN1 | c.6936C>T (p.Asp2312=) c.6963C>T (p.Asp2321=) c.6987C>T (p.Asp2329=) c.6426C>T (p.Asp2142=) c.4505C>T c.2842C>T c.6900C>T (p.Asp2300=) n.624C>T c.6825C>T (p.Asp2275=) c.6885C>T (p.Asp2295=) n.854C>T n.657C>T c.6840C>T (p.Asp2280=) c.6999C>T (p.Asp2333=) c.6984C>T (p.Asp2328=) c.6939C>T (p.Asp2313=) c.6921C>T (p.Asp2307=) c.6918C>T (p.Asp2306=) c.6903C>T (p.Asp2301=) c.6876C>T (p.Asp2292=) c.6861C>T (p.Asp2287=) c.6882C>T (p.Asp2294=) c.6858C>T (p.Asp2286=) | |
9 | g.128632265C>A | CA375098569 | SPTAN1 | c.6937C>A (p.Gln2313Lys) c.6964C>A (p.Gln2322Lys) c.6988C>A (p.Gln2330Lys) c.6427C>A (p.Gln2143Lys) c.4506C>A c.2843C>A c.6901C>A (p.Gln2301Lys) n.625C>A c.6826C>A (p.Gln2276Lys) c.6886C>A (p.Gln2296Lys) n.855C>A n.658C>A c.6841C>A (p.Gln2281Lys) c.7000C>A (p.Gln2334Lys) c.6985C>A (p.Gln2329Lys) c.6940C>A (p.Gln2314Lys) c.6922C>A (p.Gln2308Lys) c.6919C>A (p.Gln2307Lys) c.6904C>A (p.Gln2302Lys) c.6877C>A (p.Gln2293Lys) c.6862C>A (p.Gln2288Lys) c.6883C>A (p.Gln2295Lys) c.6859C>A (p.Gln2287Lys) | |
9 | g.128632265C>G | CA375098573 | SPTAN1 | c.6937C>G (p.Gln2313Glu) c.6964C>G (p.Gln2322Glu) c.6988C>G (p.Gln2330Glu) c.6427C>G (p.Gln2143Glu) c.4506C>G c.2843C>G c.6901C>G (p.Gln2301Glu) n.625C>G c.6826C>G (p.Gln2276Glu) c.6886C>G (p.Gln2296Glu) n.855C>G n.658C>G c.6841C>G (p.Gln2281Glu) c.7000C>G (p.Gln2334Glu) c.6985C>G (p.Gln2329Glu) c.6940C>G (p.Gln2314Glu) c.6922C>G (p.Gln2308Glu) c.6919C>G (p.Gln2307Glu) c.6904C>G (p.Gln2302Glu) c.6877C>G (p.Gln2293Glu) c.6862C>G (p.Gln2288Glu) c.6883C>G (p.Gln2295Glu) c.6859C>G (p.Gln2287Glu) | |
9 | g.128632265C>T | CA375098581 | SPTAN1 | c.6937C>T (p.Gln2313Ter) c.6964C>T (p.Gln2322Ter) c.6988C>T (p.Gln2330Ter) c.6427C>T (p.Gln2143Ter) c.4506C>T c.2843C>T c.6901C>T (p.Gln2301Ter) n.625C>T c.6826C>T (p.Gln2276Ter) c.6886C>T (p.Gln2296Ter) n.855C>T n.658C>T c.6841C>T (p.Gln2281Ter) c.7000C>T (p.Gln2334Ter) c.6985C>T (p.Gln2329Ter) c.6940C>T (p.Gln2314Ter) c.6922C>T (p.Gln2308Ter) c.6919C>T (p.Gln2307Ter) c.6904C>T (p.Gln2302Ter) c.6877C>T (p.Gln2293Ter) c.6862C>T (p.Gln2288Ter) c.6883C>T (p.Gln2295Ter) c.6859C>T (p.Gln2287Ter) | |
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.128632266A= | CA1880371263 | SPTAN1 | c.6938A= (p.Gln2313=) c.6965A= (p.Gln2322=) c.6989A= (p.Gln2330=) c.6428A= (p.Gln2143=) c.4507A= c.2844A= c.6902A= (p.Gln2301=) n.626A= c.6827A= (p.Gln2276=) c.6887A= (p.Gln2296=) n.856A= n.659A= c.6842A= (p.Gln2281=) c.7001A= (p.Gln2334=) c.6986A= (p.Gln2329=) c.6941A= (p.Gln2314=) c.6923A= (p.Gln2308=) c.6920A= (p.Gln2307=) c.6905A= (p.Gln2302=) c.6878A= (p.Gln2293=) c.6863A= (p.Gln2288=) c.6884A= (p.Gln2295=) c.6860A= (p.Gln2287=) | |
9 | g.128632266A>C | CA375098585 | SPTAN1 | c.6938A>C (p.Gln2313Pro) c.6965A>C (p.Gln2322Pro) c.6989A>C (p.Gln2330Pro) c.6428A>C (p.Gln2143Pro) c.4507A>C c.2844A>C c.6902A>C (p.Gln2301Pro) n.626A>C c.6827A>C (p.Gln2276Pro) c.6887A>C (p.Gln2296Pro) n.856A>C n.659A>C c.6842A>C (p.Gln2281Pro) c.7001A>C (p.Gln2334Pro) c.6986A>C (p.Gln2329Pro) c.6941A>C (p.Gln2314Pro) c.6923A>C (p.Gln2308Pro) c.6920A>C (p.Gln2307Pro) c.6905A>C (p.Gln2302Pro) c.6878A>C (p.Gln2293Pro) c.6863A>C (p.Gln2288Pro) c.6884A>C (p.Gln2295Pro) c.6860A>C (p.Gln2287Pro) | |
9 | g.128632266A>G | CA375098589 | SPTAN1 | c.6938A>G (p.Gln2313Arg) c.6965A>G (p.Gln2322Arg) c.6989A>G (p.Gln2330Arg) c.6428A>G (p.Gln2143Arg) c.4507A>G c.2844A>G c.6902A>G (p.Gln2301Arg) n.626A>G c.6827A>G (p.Gln2276Arg) c.6887A>G (p.Gln2296Arg) n.856A>G n.659A>G c.6842A>G (p.Gln2281Arg) c.7001A>G (p.Gln2334Arg) c.6986A>G (p.Gln2329Arg) c.6941A>G (p.Gln2314Arg) c.6923A>G (p.Gln2308Arg) c.6920A>G (p.Gln2307Arg) c.6905A>G (p.Gln2302Arg) c.6878A>G (p.Gln2293Arg) c.6863A>G (p.Gln2288Arg) c.6884A>G (p.Gln2295Arg) c.6860A>G (p.Gln2287Arg) | |
9 | g.128632266A>T | CA375098602 | SPTAN1 | c.6938A>T (p.Gln2313Leu) c.6965A>T (p.Gln2322Leu) c.6989A>T (p.Gln2330Leu) c.6428A>T (p.Gln2143Leu) c.4507A>T c.2844A>T c.6902A>T (p.Gln2301Leu) n.626A>T c.6827A>T (p.Gln2276Leu) c.6887A>T (p.Gln2296Leu) n.856A>T n.659A>T c.6842A>T (p.Gln2281Leu) c.7001A>T (p.Gln2334Leu) c.6986A>T (p.Gln2329Leu) c.6941A>T (p.Gln2314Leu) c.6923A>T (p.Gln2308Leu) c.6920A>T (p.Gln2307Leu) c.6905A>T (p.Gln2302Leu) c.6878A>T (p.Gln2293Leu) c.6863A>T (p.Gln2288Leu) c.6884A>T (p.Gln2295Leu) c.6860A>T (p.Gln2287Leu) | ClinVar dbSNP |
9 | g.128632267G>A | CA5265927 | SPTAN1 | c.6939G>A (p.Gln2313=) c.6966G>A (p.Gln2322=) c.6990G>A (p.Gln2330=) c.6429G>A (p.Gln2143=) c.4508G>A c.2845G>A c.6903G>A (p.Gln2301=) n.627G>A c.6828G>A (p.Gln2276=) c.6888G>A (p.Gln2296=) n.857G>A n.660G>A c.6843G>A (p.Gln2281=) c.7002G>A (p.Gln2334=) c.6987G>A (p.Gln2329=) c.6942G>A (p.Gln2314=) c.6924G>A (p.Gln2308=) c.6921G>A (p.Gln2307=) c.6906G>A (p.Gln2302=) c.6879G>A (p.Gln2293=) c.6864G>A (p.Gln2288=) c.6885G>A (p.Gln2295=) c.6861G>A (p.Gln2287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632267G>C | CA375098615 | SPTAN1 | c.6939G>C (p.Gln2313His) c.6966G>C (p.Gln2322His) c.6990G>C (p.Gln2330His) c.6429G>C (p.Gln2143His) c.4508G>C c.2845G>C c.6903G>C (p.Gln2301His) n.627G>C c.6828G>C (p.Gln2276His) c.6888G>C (p.Gln2296His) n.857G>C n.660G>C c.6843G>C (p.Gln2281His) c.7002G>C (p.Gln2334His) c.6987G>C (p.Gln2329His) c.6942G>C (p.Gln2314His) c.6924G>C (p.Gln2308His) c.6921G>C (p.Gln2307His) c.6906G>C (p.Gln2302His) c.6879G>C (p.Gln2293His) c.6864G>C (p.Gln2288His) c.6885G>C (p.Gln2295His) c.6861G>C (p.Gln2287His) | |
9 | g.128632267G= | CA1880371264 | SPTAN1 | c.6939G= (p.Gln2313=) c.6966G= (p.Gln2322=) c.6990G= (p.Gln2330=) c.6429G= (p.Gln2143=) c.4508G= c.2845G= c.6903G= (p.Gln2301=) n.627G= c.6828G= (p.Gln2276=) c.6888G= (p.Gln2296=) n.857G= n.660G= c.6843G= (p.Gln2281=) c.7002G= (p.Gln2334=) c.6987G= (p.Gln2329=) c.6942G= (p.Gln2314=) c.6924G= (p.Gln2308=) c.6921G= (p.Gln2307=) c.6906G= (p.Gln2302=) c.6879G= (p.Gln2293=) c.6864G= (p.Gln2288=) c.6885G= (p.Gln2295=) c.6861G= (p.Gln2287=) | |
9 | g.128632267G>T | CA375098626 | SPTAN1 | c.6939G>T (p.Gln2313His) c.6966G>T (p.Gln2322His) c.6990G>T (p.Gln2330His) c.6429G>T (p.Gln2143His) c.4508G>T c.2845G>T c.6903G>T (p.Gln2301His) n.627G>T c.6828G>T (p.Gln2276His) c.6888G>T (p.Gln2296His) n.857G>T n.660G>T c.6843G>T (p.Gln2281His) c.7002G>T (p.Gln2334His) c.6987G>T (p.Gln2329His) c.6942G>T (p.Gln2314His) c.6924G>T (p.Gln2308His) c.6921G>T (p.Gln2307His) c.6906G>T (p.Gln2302His) c.6879G>T (p.Gln2293His) c.6864G>T (p.Gln2288His) c.6885G>T (p.Gln2295His) c.6861G>T (p.Gln2287His) | |
9 | g.128632268C>A | CA375098636 | SPTAN1 | c.6940C>A (p.Leu2314Met) c.6967C>A (p.Leu2323Met) c.6991C>A (p.Leu2331Met) c.6430C>A (p.Leu2144Met) c.4509C>A c.2846C>A c.6904C>A (p.Leu2302Met) n.628C>A c.6829C>A (p.Leu2277Met) c.6889C>A (p.Leu2297Met) n.858C>A n.661C>A c.6844C>A (p.Leu2282Met) c.7003C>A (p.Leu2335Met) c.6988C>A (p.Leu2330Met) c.6943C>A (p.Leu2315Met) c.6925C>A (p.Leu2309Met) c.6922C>A (p.Leu2308Met) c.6907C>A (p.Leu2303Met) c.6880C>A (p.Leu2294Met) c.6865C>A (p.Leu2289Met) c.6886C>A (p.Leu2296Met) c.6862C>A (p.Leu2288Met) | |
9 | g.128632268C= | CA1880371265 | SPTAN1 | c.6940C= (p.Leu2314=) c.6967C= (p.Leu2323=) c.6991C= (p.Leu2331=) c.6430C= (p.Leu2144=) c.4509C= c.2846C= c.6904C= (p.Leu2302=) n.628C= c.6829C= (p.Leu2277=) c.6889C= (p.Leu2297=) n.858C= n.661C= c.6844C= (p.Leu2282=) c.7003C= (p.Leu2335=) c.6988C= (p.Leu2330=) c.6943C= (p.Leu2315=) c.6925C= (p.Leu2309=) c.6922C= (p.Leu2308=) c.6907C= (p.Leu2303=) c.6880C= (p.Leu2294=) c.6865C= (p.Leu2289=) c.6886C= (p.Leu2296=) c.6862C= (p.Leu2288=) | |
9 | g.128632268C>G | CA375098638 | SPTAN1 | c.6940C>G (p.Leu2314Val) c.6967C>G (p.Leu2323Val) c.6991C>G (p.Leu2331Val) c.6430C>G (p.Leu2144Val) c.4509C>G c.2846C>G c.6904C>G (p.Leu2302Val) n.628C>G c.6829C>G (p.Leu2277Val) c.6889C>G (p.Leu2297Val) n.858C>G n.661C>G c.6844C>G (p.Leu2282Val) c.7003C>G (p.Leu2335Val) c.6988C>G (p.Leu2330Val) c.6943C>G (p.Leu2315Val) c.6925C>G (p.Leu2309Val) c.6922C>G (p.Leu2308Val) c.6907C>G (p.Leu2303Val) c.6880C>G (p.Leu2294Val) c.6865C>G (p.Leu2289Val) c.6886C>G (p.Leu2296Val) c.6862C>G (p.Leu2288Val) | |
9 | g.128632268C>T | CA467304851 | SPTAN1 | c.6940C>T (p.Leu2314=) c.6967C>T (p.Leu2323=) c.6991C>T (p.Leu2331=) c.6430C>T (p.Leu2144=) c.4509C>T c.2846C>T c.6904C>T (p.Leu2302=) n.628C>T c.6829C>T (p.Leu2277=) c.6889C>T (p.Leu2297=) n.858C>T n.661C>T c.6844C>T (p.Leu2282=) c.7003C>T (p.Leu2335=) c.6988C>T (p.Leu2330=) c.6943C>T (p.Leu2315=) c.6925C>T (p.Leu2309=) c.6922C>T (p.Leu2308=) c.6907C>T (p.Leu2303=) c.6880C>T (p.Leu2294=) c.6865C>T (p.Leu2289=) c.6886C>T (p.Leu2296=) c.6862C>T (p.Leu2288=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128632269T>A | CA375098655 | SPTAN1 | c.6941T>A (p.Leu2314Gln) c.6968T>A (p.Leu2323Gln) c.6992T>A (p.Leu2331Gln) c.6431T>A (p.Leu2144Gln) c.4510T>A c.2847T>A c.6905T>A (p.Leu2302Gln) n.629T>A c.6830T>A (p.Leu2277Gln) c.6890T>A (p.Leu2297Gln) n.859T>A n.662T>A c.6845T>A (p.Leu2282Gln) c.7004T>A (p.Leu2335Gln) c.6989T>A (p.Leu2330Gln) c.6944T>A (p.Leu2315Gln) c.6926T>A (p.Leu2309Gln) c.6923T>A (p.Leu2308Gln) c.6908T>A (p.Leu2303Gln) c.6881T>A (p.Leu2294Gln) c.6866T>A (p.Leu2289Gln) c.6887T>A (p.Leu2296Gln) c.6863T>A (p.Leu2288Gln) | |
9 | g.128632269T>C | CA375098640 | SPTAN1 | c.6941T>C (p.Leu2314Pro) c.6968T>C (p.Leu2323Pro) c.6992T>C (p.Leu2331Pro) c.6431T>C (p.Leu2144Pro) c.4510T>C c.2847T>C c.6905T>C (p.Leu2302Pro) n.629T>C c.6830T>C (p.Leu2277Pro) c.6890T>C (p.Leu2297Pro) n.859T>C n.662T>C c.6845T>C (p.Leu2282Pro) c.7004T>C (p.Leu2335Pro) c.6989T>C (p.Leu2330Pro) c.6944T>C (p.Leu2315Pro) c.6926T>C (p.Leu2309Pro) c.6923T>C (p.Leu2308Pro) c.6908T>C (p.Leu2303Pro) c.6881T>C (p.Leu2294Pro) c.6866T>C (p.Leu2289Pro) c.6887T>C (p.Leu2296Pro) c.6863T>C (p.Leu2288Pro) | |
9 | g.128632269T>G | CA375098652 | SPTAN1 | c.6941T>G (p.Leu2314Arg) c.6968T>G (p.Leu2323Arg) c.6992T>G (p.Leu2331Arg) c.6431T>G (p.Leu2144Arg) c.4510T>G c.2847T>G c.6905T>G (p.Leu2302Arg) n.629T>G c.6830T>G (p.Leu2277Arg) c.6890T>G (p.Leu2297Arg) n.859T>G n.662T>G c.6845T>G (p.Leu2282Arg) c.7004T>G (p.Leu2335Arg) c.6989T>G (p.Leu2330Arg) c.6944T>G (p.Leu2315Arg) c.6926T>G (p.Leu2309Arg) c.6923T>G (p.Leu2308Arg) c.6908T>G (p.Leu2303Arg) c.6881T>G (p.Leu2294Arg) c.6866T>G (p.Leu2289Arg) c.6887T>G (p.Leu2296Arg) c.6863T>G (p.Leu2288Arg) | |
9 | g.128632270G>A | CA467304852 | SPTAN1 | c.6942G>A (p.Leu2314=) c.6969G>A (p.Leu2323=) c.6993G>A (p.Leu2331=) c.6432G>A (p.Leu2144=) c.4511G>A c.2848G>A c.6906G>A (p.Leu2302=) n.630G>A c.6831G>A (p.Leu2277=) c.6891G>A (p.Leu2297=) n.860G>A n.663G>A c.6846G>A (p.Leu2282=) c.7005G>A (p.Leu2335=) c.6990G>A (p.Leu2330=) c.6945G>A (p.Leu2315=) c.6927G>A (p.Leu2309=) c.6924G>A (p.Leu2308=) c.6909G>A (p.Leu2303=) c.6882G>A (p.Leu2294=) c.6867G>A (p.Leu2289=) c.6888G>A (p.Leu2296=) c.6864G>A (p.Leu2288=) | gnomAD v4 |
9 | g.128632270G>C | CA467304853 | SPTAN1 | c.6942G>C (p.Leu2314=) c.6969G>C (p.Leu2323=) c.6993G>C (p.Leu2331=) c.6432G>C (p.Leu2144=) c.4511G>C c.2848G>C c.6906G>C (p.Leu2302=) n.630G>C c.6831G>C (p.Leu2277=) c.6891G>C (p.Leu2297=) n.860G>C n.663G>C c.6846G>C (p.Leu2282=) c.7005G>C (p.Leu2335=) c.6990G>C (p.Leu2330=) c.6945G>C (p.Leu2315=) c.6927G>C (p.Leu2309=) c.6924G>C (p.Leu2308=) c.6909G>C (p.Leu2303=) c.6882G>C (p.Leu2294=) c.6867G>C (p.Leu2289=) c.6888G>C (p.Leu2296=) c.6864G>C (p.Leu2288=) | |
9 | g.128632270G>T | CA467304854 | SPTAN1 | c.6942G>T (p.Leu2314=) c.6969G>T (p.Leu2323=) c.6993G>T (p.Leu2331=) c.6432G>T (p.Leu2144=) c.4511G>T c.2848G>T c.6906G>T (p.Leu2302=) n.630G>T c.6831G>T (p.Leu2277=) c.6891G>T (p.Leu2297=) n.860G>T n.663G>T c.6846G>T (p.Leu2282=) c.7005G>T (p.Leu2335=) c.6990G>T (p.Leu2330=) c.6945G>T (p.Leu2315=) c.6927G>T (p.Leu2309=) c.6924G>T (p.Leu2308=) c.6909G>T (p.Leu2303=) c.6882G>T (p.Leu2294=) c.6867G>T (p.Leu2289=) c.6888G>T (p.Leu2296=) c.6864G>T (p.Leu2288=) | |
9 | g.128632271G>A | CA375098674 | SPTAN1 | c.6943G>A (p.Asp2315Asn) c.6970G>A (p.Asp2324Asn) c.6994G>A (p.Asp2332Asn) c.6433G>A (p.Asp2145Asn) c.4512G>A c.2849G>A c.6907G>A (p.Asp2303Asn) n.631G>A c.6832G>A (p.Asp2278Asn) c.6892G>A (p.Asp2298Asn) n.861G>A n.664G>A c.6847G>A (p.Asp2283Asn) c.7006G>A (p.Asp2336Asn) c.6991G>A (p.Asp2331Asn) c.6946G>A (p.Asp2316Asn) c.6928G>A (p.Asp2310Asn) c.6925G>A (p.Asp2309Asn) c.6910G>A (p.Asp2304Asn) c.6883G>A (p.Asp2295Asn) c.6868G>A (p.Asp2290Asn) c.6889G>A (p.Asp2297Asn) c.6865G>A (p.Asp2289Asn) | |
9 | g.128632271G>C | CA375098683 | SPTAN1 | c.6943G>C (p.Asp2315His) c.6970G>C (p.Asp2324His) c.6994G>C (p.Asp2332His) c.6433G>C (p.Asp2145His) c.4512G>C c.2849G>C c.6907G>C (p.Asp2303His) n.631G>C c.6832G>C (p.Asp2278His) c.6892G>C (p.Asp2298His) n.861G>C n.664G>C c.6847G>C (p.Asp2283His) c.7006G>C (p.Asp2336His) c.6991G>C (p.Asp2331His) c.6946G>C (p.Asp2316His) c.6928G>C (p.Asp2310His) c.6925G>C (p.Asp2309His) c.6910G>C (p.Asp2304His) c.6883G>C (p.Asp2295His) c.6868G>C (p.Asp2290His) c.6889G>C (p.Asp2297His) c.6865G>C (p.Asp2289His) | |
9 | g.128632271G>T | CA375098685 | SPTAN1 | c.6943G>T (p.Asp2315Tyr) c.6970G>T (p.Asp2324Tyr) c.6994G>T (p.Asp2332Tyr) c.6433G>T (p.Asp2145Tyr) c.4512G>T c.2849G>T c.6907G>T (p.Asp2303Tyr) n.631G>T c.6832G>T (p.Asp2278Tyr) c.6892G>T (p.Asp2298Tyr) n.861G>T n.664G>T c.6847G>T (p.Asp2283Tyr) c.7006G>T (p.Asp2336Tyr) c.6991G>T (p.Asp2331Tyr) c.6946G>T (p.Asp2316Tyr) c.6928G>T (p.Asp2310Tyr) c.6925G>T (p.Asp2309Tyr) c.6910G>T (p.Asp2304Tyr) c.6883G>T (p.Asp2295Tyr) c.6868G>T (p.Asp2290Tyr) c.6889G>T (p.Asp2297Tyr) c.6865G>T (p.Asp2289Tyr) | |
9 | g.128632272A= | CA1880371266 | SPTAN1 | c.6944A= (p.Asp2315=) c.6971A= (p.Asp2324=) c.6995A= (p.Asp2332=) c.6434A= (p.Asp2145=) c.4513A= c.2850A= c.6908A= (p.Asp2303=) n.632A= c.6833A= (p.Asp2278=) c.6893A= (p.Asp2298=) n.862A= n.665A= c.6848A= (p.Asp2283=) c.7007A= (p.Asp2336=) c.6992A= (p.Asp2331=) c.6947A= (p.Asp2316=) c.6929A= (p.Asp2310=) c.6926A= (p.Asp2309=) c.6911A= (p.Asp2304=) c.6884A= (p.Asp2295=) c.6869A= (p.Asp2290=) c.6890A= (p.Asp2297=) c.6866A= (p.Asp2289=) | |
9 | g.128632272A>C | CA375098688 | SPTAN1 | c.6944A>C (p.Asp2315Ala) c.6971A>C (p.Asp2324Ala) c.6995A>C (p.Asp2332Ala) c.6434A>C (p.Asp2145Ala) c.4513A>C c.2850A>C c.6908A>C (p.Asp2303Ala) n.632A>C c.6833A>C (p.Asp2278Ala) c.6893A>C (p.Asp2298Ala) n.862A>C n.665A>C c.6848A>C (p.Asp2283Ala) c.7007A>C (p.Asp2336Ala) c.6992A>C (p.Asp2331Ala) c.6947A>C (p.Asp2316Ala) c.6929A>C (p.Asp2310Ala) c.6926A>C (p.Asp2309Ala) c.6911A>C (p.Asp2304Ala) c.6884A>C (p.Asp2295Ala) c.6869A>C (p.Asp2290Ala) c.6890A>C (p.Asp2297Ala) c.6866A>C (p.Asp2289Ala) | |
9 | g.128632272A>G | CA375098691 | SPTAN1 | c.6944A>G (p.Asp2315Gly) c.6971A>G (p.Asp2324Gly) c.6995A>G (p.Asp2332Gly) c.6434A>G (p.Asp2145Gly) c.4513A>G c.2850A>G c.6908A>G (p.Asp2303Gly) n.632A>G c.6833A>G (p.Asp2278Gly) c.6893A>G (p.Asp2298Gly) n.862A>G n.665A>G c.6848A>G (p.Asp2283Gly) c.7007A>G (p.Asp2336Gly) c.6992A>G (p.Asp2331Gly) c.6947A>G (p.Asp2316Gly) c.6929A>G (p.Asp2310Gly) c.6926A>G (p.Asp2309Gly) c.6911A>G (p.Asp2304Gly) c.6884A>G (p.Asp2295Gly) c.6869A>G (p.Asp2290Gly) c.6890A>G (p.Asp2297Gly) c.6866A>G (p.Asp2289Gly) | |
9 | g.128632272A>T | CA375098695 | SPTAN1 | c.6944A>T (p.Asp2315Val) c.6971A>T (p.Asp2324Val) c.6995A>T (p.Asp2332Val) c.6434A>T (p.Asp2145Val) c.4513A>T c.2850A>T c.6908A>T (p.Asp2303Val) n.632A>T c.6833A>T (p.Asp2278Val) c.6893A>T (p.Asp2298Val) n.862A>T n.665A>T c.6848A>T (p.Asp2283Val) c.7007A>T (p.Asp2336Val) c.6992A>T (p.Asp2331Val) c.6947A>T (p.Asp2316Val) c.6929A>T (p.Asp2310Val) c.6926A>T (p.Asp2309Val) c.6911A>T (p.Asp2304Val) c.6884A>T (p.Asp2295Val) c.6869A>T (p.Asp2290Val) c.6890A>T (p.Asp2297Val) c.6866A>T (p.Asp2289Val) | |
9 | g.128632273C>A | CA200412469 | SPTAN1 | c.6945C>A (p.Asp2315Glu) c.6972C>A (p.Asp2324Glu) c.6996C>A (p.Asp2332Glu) c.6435C>A (p.Asp2145Glu) c.4514C>A c.2851C>A c.6909C>A (p.Asp2303Glu) n.633C>A c.6834C>A (p.Asp2278Glu) c.6894C>A (p.Asp2298Glu) n.863C>A n.666C>A c.6849C>A (p.Asp2283Glu) c.7008C>A (p.Asp2336Glu) c.6993C>A (p.Asp2331Glu) c.6948C>A (p.Asp2316Glu) c.6930C>A (p.Asp2310Glu) c.6927C>A (p.Asp2309Glu) c.6912C>A (p.Asp2304Glu) c.6885C>A (p.Asp2295Glu) c.6870C>A (p.Asp2290Glu) c.6891C>A (p.Asp2297Glu) c.6867C>A (p.Asp2289Glu) | dbSNP |
9 | g.128632273C= | CA1880371267 | SPTAN1 | c.6945C= (p.Asp2315=) c.6972C= (p.Asp2324=) c.6996C= (p.Asp2332=) c.6435C= (p.Asp2145=) c.4514C= c.2851C= c.6909C= (p.Asp2303=) n.633C= c.6834C= (p.Asp2278=) c.6894C= (p.Asp2298=) n.863C= n.666C= c.6849C= (p.Asp2283=) c.7008C= (p.Asp2336=) c.6993C= (p.Asp2331=) c.6948C= (p.Asp2316=) c.6930C= (p.Asp2310=) c.6927C= (p.Asp2309=) c.6912C= (p.Asp2304=) c.6885C= (p.Asp2295=) c.6870C= (p.Asp2290=) c.6891C= (p.Asp2297=) c.6867C= (p.Asp2289=) | |
9 | g.128632273C>G | CA375098698 | SPTAN1 | c.6945C>G (p.Asp2315Glu) c.6972C>G (p.Asp2324Glu) c.6996C>G (p.Asp2332Glu) c.6435C>G (p.Asp2145Glu) c.4514C>G c.2851C>G c.6909C>G (p.Asp2303Glu) n.633C>G c.6834C>G (p.Asp2278Glu) c.6894C>G (p.Asp2298Glu) n.863C>G n.666C>G c.6849C>G (p.Asp2283Glu) c.7008C>G (p.Asp2336Glu) c.6993C>G (p.Asp2331Glu) c.6948C>G (p.Asp2316Glu) c.6930C>G (p.Asp2310Glu) c.6927C>G (p.Asp2309Glu) c.6912C>G (p.Asp2304Glu) c.6885C>G (p.Asp2295Glu) c.6870C>G (p.Asp2290Glu) c.6891C>G (p.Asp2297Glu) c.6867C>G (p.Asp2289Glu) | dbSNP |
9 | g.128632273C>T | CA5265928 | SPTAN1 | c.6945C>T (p.Asp2315=) c.6972C>T (p.Asp2324=) c.6996C>T (p.Asp2332=) c.6435C>T (p.Asp2145=) c.4514C>T c.2851C>T c.6909C>T (p.Asp2303=) n.633C>T c.6834C>T (p.Asp2278=) c.6894C>T (p.Asp2298=) n.863C>T n.666C>T c.6849C>T (p.Asp2283=) c.7008C>T (p.Asp2336=) c.6993C>T (p.Asp2331=) c.6948C>T (p.Asp2316=) c.6930C>T (p.Asp2310=) c.6927C>T (p.Asp2309=) c.6912C>T (p.Asp2304=) c.6885C>T (p.Asp2295=) c.6870C>T (p.Asp2290=) c.6891C>T (p.Asp2297=) c.6867C>T (p.Asp2289=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
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.128632274C>A | CA375098709 | SPTAN1 | c.6946C>A (p.Gln2316Lys) c.6973C>A (p.Gln2325Lys) c.6997C>A (p.Gln2333Lys) c.6436C>A (p.Gln2146Lys) c.4515C>A c.2852C>A c.6910C>A (p.Gln2304Lys) n.634C>A c.6835C>A (p.Gln2279Lys) c.6895C>A (p.Gln2299Lys) n.864C>A n.667C>A c.6850C>A (p.Gln2284Lys) c.7009C>A (p.Gln2337Lys) c.6994C>A (p.Gln2332Lys) c.6949C>A (p.Gln2317Lys) c.6931C>A (p.Gln2311Lys) c.6928C>A (p.Gln2310Lys) c.6913C>A (p.Gln2305Lys) c.6886C>A (p.Gln2296Lys) c.6871C>A (p.Gln2291Lys) c.6892C>A (p.Gln2298Lys) c.6868C>A (p.Gln2290Lys) | |
9 | g.128632274C>G | CA375098705 | SPTAN1 | c.6946C>G (p.Gln2316Glu) c.6973C>G (p.Gln2325Glu) c.6997C>G (p.Gln2333Glu) c.6436C>G (p.Gln2146Glu) c.4515C>G c.2852C>G c.6910C>G (p.Gln2304Glu) n.634C>G c.6835C>G (p.Gln2279Glu) c.6895C>G (p.Gln2299Glu) n.864C>G n.667C>G c.6850C>G (p.Gln2284Glu) c.7009C>G (p.Gln2337Glu) c.6994C>G (p.Gln2332Glu) c.6949C>G (p.Gln2317Glu) c.6931C>G (p.Gln2311Glu) c.6928C>G (p.Gln2310Glu) c.6913C>G (p.Gln2305Glu) c.6886C>G (p.Gln2296Glu) c.6871C>G (p.Gln2291Glu) c.6892C>G (p.Gln2298Glu) c.6868C>G (p.Gln2290Glu) | |
9 | g.128632274C>T | CA375098711 | SPTAN1 | c.6946C>T (p.Gln2316Ter) c.6973C>T (p.Gln2325Ter) c.6997C>T (p.Gln2333Ter) c.6436C>T (p.Gln2146Ter) c.4515C>T c.2852C>T c.6910C>T (p.Gln2304Ter) n.634C>T c.6835C>T (p.Gln2279Ter) c.6895C>T (p.Gln2299Ter) n.864C>T n.667C>T c.6850C>T (p.Gln2284Ter) c.7009C>T (p.Gln2337Ter) c.6994C>T (p.Gln2332Ter) c.6949C>T (p.Gln2317Ter) c.6931C>T (p.Gln2311Ter) c.6928C>T (p.Gln2310Ter) c.6913C>T (p.Gln2305Ter) c.6886C>T (p.Gln2296Ter) c.6871C>T (p.Gln2291Ter) c.6892C>T (p.Gln2298Ter) c.6868C>T (p.Gln2290Ter) | |
9 | g.128632275A>C | CA375098721 | SPTAN1 | c.6947A>C (p.Gln2316Pro) c.6974A>C (p.Gln2325Pro) c.6998A>C (p.Gln2333Pro) c.6437A>C (p.Gln2146Pro) c.4516A>C c.2853A>C c.6911A>C (p.Gln2304Pro) n.635A>C c.6836A>C (p.Gln2279Pro) c.6896A>C (p.Gln2299Pro) n.865A>C n.668A>C c.6851A>C (p.Gln2284Pro) c.7010A>C (p.Gln2337Pro) c.6995A>C (p.Gln2332Pro) c.6950A>C (p.Gln2317Pro) c.6932A>C (p.Gln2311Pro) c.6929A>C (p.Gln2310Pro) c.6914A>C (p.Gln2305Pro) c.6887A>C (p.Gln2296Pro) c.6872A>C (p.Gln2291Pro) c.6893A>C (p.Gln2298Pro) c.6869A>C (p.Gln2290Pro) | |
9 | g.128632275A>G | CA375098717 | SPTAN1 | c.6947A>G (p.Gln2316Arg) c.6974A>G (p.Gln2325Arg) c.6998A>G (p.Gln2333Arg) c.6437A>G (p.Gln2146Arg) c.4516A>G c.2853A>G c.6911A>G (p.Gln2304Arg) n.635A>G c.6836A>G (p.Gln2279Arg) c.6896A>G (p.Gln2299Arg) n.865A>G n.668A>G c.6851A>G (p.Gln2284Arg) c.7010A>G (p.Gln2337Arg) c.6995A>G (p.Gln2332Arg) c.6950A>G (p.Gln2317Arg) c.6932A>G (p.Gln2311Arg) c.6929A>G (p.Gln2310Arg) c.6914A>G (p.Gln2305Arg) c.6887A>G (p.Gln2296Arg) c.6872A>G (p.Gln2291Arg) c.6893A>G (p.Gln2298Arg) c.6869A>G (p.Gln2290Arg) | |
9 | g.128632275A>T | CA375098719 | SPTAN1 | c.6947A>T (p.Gln2316Leu) c.6974A>T (p.Gln2325Leu) c.6998A>T (p.Gln2333Leu) c.6437A>T (p.Gln2146Leu) c.4516A>T c.2853A>T c.6911A>T (p.Gln2304Leu) n.635A>T c.6836A>T (p.Gln2279Leu) c.6896A>T (p.Gln2299Leu) n.865A>T n.668A>T c.6851A>T (p.Gln2284Leu) c.7010A>T (p.Gln2337Leu) c.6995A>T (p.Gln2332Leu) c.6950A>T (p.Gln2317Leu) c.6932A>T (p.Gln2311Leu) c.6929A>T (p.Gln2310Leu) c.6914A>T (p.Gln2305Leu) c.6887A>T (p.Gln2296Leu) c.6872A>T (p.Gln2291Leu) c.6893A>T (p.Gln2298Leu) c.6869A>T (p.Gln2290Leu) | |
9 | g.128632276G>A | CA467304855 | SPTAN1 | c.6948G>A (p.Gln2316=) c.6975G>A (p.Gln2325=) c.6999G>A (p.Gln2333=) c.6438G>A (p.Gln2146=) c.4517G>A c.2854G>A c.6912G>A (p.Gln2304=) n.636G>A c.6837G>A (p.Gln2279=) c.6897G>A (p.Gln2299=) n.866G>A n.669G>A c.6852G>A (p.Gln2284=) c.7011G>A (p.Gln2337=) c.6996G>A (p.Gln2332=) c.6951G>A (p.Gln2317=) c.6933G>A (p.Gln2311=) c.6930G>A (p.Gln2310=) c.6915G>A (p.Gln2305=) c.6888G>A (p.Gln2296=) c.6873G>A (p.Gln2291=) c.6894G>A (p.Gln2298=) c.6870G>A (p.Gln2290=) | |
9 | g.128632276G>C | CA375098724 | SPTAN1 | c.6948G>C (p.Gln2316His) c.6975G>C (p.Gln2325His) c.6999G>C (p.Gln2333His) c.6438G>C (p.Gln2146His) c.4517G>C c.2854G>C c.6912G>C (p.Gln2304His) n.636G>C c.6837G>C (p.Gln2279His) c.6897G>C (p.Gln2299His) n.866G>C n.669G>C c.6852G>C (p.Gln2284His) c.7011G>C (p.Gln2337His) c.6996G>C (p.Gln2332His) c.6951G>C (p.Gln2317His) c.6933G>C (p.Gln2311His) c.6930G>C (p.Gln2310His) c.6915G>C (p.Gln2305His) c.6888G>C (p.Gln2296His) c.6873G>C (p.Gln2291His) c.6894G>C (p.Gln2298His) c.6870G>C (p.Gln2290His) | |
9 | g.128632276G>T | CA375098727 | SPTAN1 | c.6948G>T (p.Gln2316His) c.6975G>T (p.Gln2325His) c.6999G>T (p.Gln2333His) c.6438G>T (p.Gln2146His) c.4517G>T c.2854G>T c.6912G>T (p.Gln2304His) n.636G>T c.6837G>T (p.Gln2279His) c.6897G>T (p.Gln2299His) n.866G>T n.669G>T c.6852G>T (p.Gln2284His) c.7011G>T (p.Gln2337His) c.6996G>T (p.Gln2332His) c.6951G>T (p.Gln2317His) c.6933G>T (p.Gln2311His) c.6930G>T (p.Gln2310His) c.6915G>T (p.Gln2305His) c.6888G>T (p.Gln2296His) c.6873G>T (p.Gln2291His) c.6894G>T (p.Gln2298His) c.6870G>T (p.Gln2290His) | |
9 | g.128632277C>A | CA375098733 | SPTAN1 | c.6949C>A (p.Leu2317Met) c.6976C>A (p.Leu2326Met) c.7000C>A (p.Leu2334Met) c.6439C>A (p.Leu2147Met) c.4518C>A c.2855C>A c.6913C>A (p.Leu2305Met) n.637C>A c.6838C>A (p.Leu2280Met) c.6898C>A (p.Leu2300Met) n.867C>A n.670C>A c.6853C>A (p.Leu2285Met) c.7012C>A (p.Leu2338Met) c.6997C>A (p.Leu2333Met) c.6952C>A (p.Leu2318Met) c.6934C>A (p.Leu2312Met) c.6931C>A (p.Leu2311Met) c.6916C>A (p.Leu2306Met) c.6889C>A (p.Leu2297Met) c.6874C>A (p.Leu2292Met) c.6895C>A (p.Leu2299Met) c.6871C>A (p.Leu2291Met) | |
9 | g.128632277C= | CA1880371268 | SPTAN1 | c.6949C= (p.Leu2317=) c.6976C= (p.Leu2326=) c.7000C= (p.Leu2334=) c.6439C= (p.Leu2147=) c.4518C= c.2855C= c.6913C= (p.Leu2305=) n.637C= c.6838C= (p.Leu2280=) c.6898C= (p.Leu2300=) n.867C= n.670C= c.6853C= (p.Leu2285=) c.7012C= (p.Leu2338=) c.6997C= (p.Leu2333=) c.6952C= (p.Leu2318=) c.6934C= (p.Leu2312=) c.6931C= (p.Leu2311=) c.6916C= (p.Leu2306=) c.6889C= (p.Leu2297=) c.6874C= (p.Leu2292=) c.6895C= (p.Leu2299=) c.6871C= (p.Leu2291=) | |
9 | g.128632277C>G | CA375098741 | SPTAN1 | c.6949C>G (p.Leu2317Val) c.6976C>G (p.Leu2326Val) c.7000C>G (p.Leu2334Val) c.6439C>G (p.Leu2147Val) c.4518C>G c.2855C>G c.6913C>G (p.Leu2305Val) n.637C>G c.6838C>G (p.Leu2280Val) c.6898C>G (p.Leu2300Val) n.867C>G n.670C>G c.6853C>G (p.Leu2285Val) c.7012C>G (p.Leu2338Val) c.6997C>G (p.Leu2333Val) c.6952C>G (p.Leu2318Val) c.6934C>G (p.Leu2312Val) c.6931C>G (p.Leu2311Val) c.6916C>G (p.Leu2306Val) c.6889C>G (p.Leu2297Val) c.6874C>G (p.Leu2292Val) c.6895C>G (p.Leu2299Val) c.6871C>G (p.Leu2291Val) | |
9 | g.128632277C>T | CA5265929 | SPTAN1 | c.6949C>T (p.Leu2317=) c.6976C>T (p.Leu2326=) c.7000C>T (p.Leu2334=) c.6439C>T (p.Leu2147=) c.4518C>T c.2855C>T c.6913C>T (p.Leu2305=) n.637C>T c.6838C>T (p.Leu2280=) c.6898C>T (p.Leu2300=) n.867C>T n.670C>T c.6853C>T (p.Leu2285=) c.7012C>T (p.Leu2338=) c.6997C>T (p.Leu2333=) c.6952C>T (p.Leu2318=) c.6934C>T (p.Leu2312=) c.6931C>T (p.Leu2311=) c.6916C>T (p.Leu2306=) c.6889C>T (p.Leu2297=) c.6874C>T (p.Leu2292=) c.6895C>T (p.Leu2299=) c.6871C>T (p.Leu2291=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128632278T>A | CA375098754 | SPTAN1 | c.6950T>A (p.Leu2317Gln) c.6977T>A (p.Leu2326Gln) c.7001T>A (p.Leu2334Gln) c.6440T>A (p.Leu2147Gln) c.4519T>A c.2856T>A c.6914T>A (p.Leu2305Gln) n.638T>A c.6839T>A (p.Leu2280Gln) c.6899T>A (p.Leu2300Gln) n.868T>A n.671T>A c.6854T>A (p.Leu2285Gln) c.7013T>A (p.Leu2338Gln) c.6998T>A (p.Leu2333Gln) c.6953T>A (p.Leu2318Gln) c.6935T>A (p.Leu2312Gln) c.6932T>A (p.Leu2311Gln) c.6917T>A (p.Leu2306Gln) c.6890T>A (p.Leu2297Gln) c.6875T>A (p.Leu2292Gln) c.6896T>A (p.Leu2299Gln) c.6872T>A (p.Leu2291Gln) | |
9 | g.128632278T>C | CA375098758 | SPTAN1 | c.6950T>C (p.Leu2317Pro) c.6977T>C (p.Leu2326Pro) c.7001T>C (p.Leu2334Pro) c.6440T>C (p.Leu2147Pro) c.4519T>C c.2856T>C c.6914T>C (p.Leu2305Pro) n.638T>C c.6839T>C (p.Leu2280Pro) c.6899T>C (p.Leu2300Pro) n.868T>C n.671T>C c.6854T>C (p.Leu2285Pro) c.7013T>C (p.Leu2338Pro) c.6998T>C (p.Leu2333Pro) c.6953T>C (p.Leu2318Pro) c.6935T>C (p.Leu2312Pro) c.6932T>C (p.Leu2311Pro) c.6917T>C (p.Leu2306Pro) c.6890T>C (p.Leu2297Pro) c.6875T>C (p.Leu2292Pro) c.6896T>C (p.Leu2299Pro) c.6872T>C (p.Leu2291Pro) | |
9 | g.128632278T>G | CA375098759 | SPTAN1 | c.6950T>G (p.Leu2317Arg) c.6977T>G (p.Leu2326Arg) c.7001T>G (p.Leu2334Arg) c.6440T>G (p.Leu2147Arg) c.4519T>G c.2856T>G c.6914T>G (p.Leu2305Arg) n.638T>G c.6839T>G (p.Leu2280Arg) c.6899T>G (p.Leu2300Arg) n.868T>G n.671T>G c.6854T>G (p.Leu2285Arg) c.7013T>G (p.Leu2338Arg) c.6998T>G (p.Leu2333Arg) c.6953T>G (p.Leu2318Arg) c.6935T>G (p.Leu2312Arg) c.6932T>G (p.Leu2311Arg) c.6917T>G (p.Leu2306Arg) c.6890T>G (p.Leu2297Arg) c.6875T>G (p.Leu2292Arg) c.6896T>G (p.Leu2299Arg) c.6872T>G (p.Leu2291Arg) | |
9 | g.128632279G>A | CA467304856 | SPTAN1 | c.6951G>A (p.Leu2317=) c.6978G>A (p.Leu2326=) c.7002G>A (p.Leu2334=) c.6441G>A (p.Leu2147=) c.4520G>A c.2857G>A c.6915G>A (p.Leu2305=) n.639G>A c.6840G>A (p.Leu2280=) c.6900G>A (p.Leu2300=) n.869G>A n.672G>A c.6855G>A (p.Leu2285=) c.7014G>A (p.Leu2338=) c.6999G>A (p.Leu2333=) c.6954G>A (p.Leu2318=) c.6936G>A (p.Leu2312=) c.6933G>A (p.Leu2311=) c.6918G>A (p.Leu2306=) c.6891G>A (p.Leu2297=) c.6876G>A (p.Leu2292=) c.6897G>A (p.Leu2299=) c.6873G>A (p.Leu2291=) | gnomAD v4 |
9 | g.128632279G>C | CA467304858 | SPTAN1 | c.6951G>C (p.Leu2317=) c.6978G>C (p.Leu2326=) c.7002G>C (p.Leu2334=) c.6441G>C (p.Leu2147=) c.4520G>C c.2857G>C c.6915G>C (p.Leu2305=) n.639G>C c.6840G>C (p.Leu2280=) c.6900G>C (p.Leu2300=) n.869G>C n.672G>C c.6855G>C (p.Leu2285=) c.7014G>C (p.Leu2338=) c.6999G>C (p.Leu2333=) c.6954G>C (p.Leu2318=) c.6936G>C (p.Leu2312=) c.6933G>C (p.Leu2311=) c.6918G>C (p.Leu2306=) c.6891G>C (p.Leu2297=) c.6876G>C (p.Leu2292=) c.6897G>C (p.Leu2299=) c.6873G>C (p.Leu2291=) | |
9 | g.128632279G>T | CA467304857 | SPTAN1 | c.6951G>T (p.Leu2317=) c.6978G>T (p.Leu2326=) c.7002G>T (p.Leu2334=) c.6441G>T (p.Leu2147=) c.4520G>T c.2857G>T c.6915G>T (p.Leu2305=) n.639G>T c.6840G>T (p.Leu2280=) c.6900G>T (p.Leu2300=) n.869G>T n.672G>T c.6855G>T (p.Leu2285=) c.7014G>T (p.Leu2338=) c.6999G>T (p.Leu2333=) c.6954G>T (p.Leu2318=) c.6936G>T (p.Leu2312=) c.6933G>T (p.Leu2311=) c.6918G>T (p.Leu2306=) c.6891G>T (p.Leu2297=) c.6876G>T (p.Leu2292=) c.6897G>T (p.Leu2299=) c.6873G>T (p.Leu2291=) | |
9 | g.128632280G>A | CA375098761 | SPTAN1 | c.6952G>A (p.Gly2318Ser) c.6979G>A (p.Gly2327Ser) c.7003G>A (p.Gly2335Ser) c.6442G>A (p.Gly2148Ser) c.4521G>A c.2858G>A c.6916G>A (p.Gly2306Ser) n.640G>A c.6841G>A (p.Gly2281Ser) c.6901G>A (p.Gly2301Ser) n.870G>A n.673G>A c.6856G>A (p.Gly2286Ser) c.7015G>A (p.Gly2339Ser) c.7000G>A (p.Gly2334Ser) c.6955G>A (p.Gly2319Ser) c.6937G>A (p.Gly2313Ser) c.6934G>A (p.Gly2312Ser) c.6919G>A (p.Gly2307Ser) c.6892G>A (p.Gly2298Ser) c.6877G>A (p.Gly2293Ser) c.6898G>A (p.Gly2300Ser) c.6874G>A (p.Gly2292Ser) | gnomAD v4 |
9 | g.128632280G>C | CA375098763 | SPTAN1 | c.6952G>C (p.Gly2318Arg) c.6979G>C (p.Gly2327Arg) c.7003G>C (p.Gly2335Arg) c.6442G>C (p.Gly2148Arg) c.4521G>C c.2858G>C c.6916G>C (p.Gly2306Arg) n.640G>C c.6841G>C (p.Gly2281Arg) c.6901G>C (p.Gly2301Arg) n.870G>C n.673G>C c.6856G>C (p.Gly2286Arg) c.7015G>C (p.Gly2339Arg) c.7000G>C (p.Gly2334Arg) c.6955G>C (p.Gly2319Arg) c.6937G>C (p.Gly2313Arg) c.6934G>C (p.Gly2312Arg) c.6919G>C (p.Gly2307Arg) c.6892G>C (p.Gly2298Arg) c.6877G>C (p.Gly2293Arg) c.6898G>C (p.Gly2300Arg) c.6874G>C (p.Gly2292Arg) | |
9 | g.128632280G= | CA1880371269 | SPTAN1 | c.6952G= (p.Gly2318=) c.6979G= (p.Gly2327=) c.7003G= (p.Gly2335=) c.6442G= (p.Gly2148=) c.4521G= c.2858G= c.6916G= (p.Gly2306=) n.640G= c.6841G= (p.Gly2281=) c.6901G= (p.Gly2301=) n.870G= n.673G= c.6856G= (p.Gly2286=) c.7015G= (p.Gly2339=) c.7000G= (p.Gly2334=) c.6955G= (p.Gly2319=) c.6937G= (p.Gly2313=) c.6934G= (p.Gly2312=) c.6919G= (p.Gly2307=) c.6892G= (p.Gly2298=) c.6877G= (p.Gly2293=) c.6898G= (p.Gly2300=) c.6874G= (p.Gly2292=) | |
9 | g.128632280G>T | CA375098764 | SPTAN1 | c.6952G>T (p.Gly2318Cys) c.6979G>T (p.Gly2327Cys) c.7003G>T (p.Gly2335Cys) c.6442G>T (p.Gly2148Cys) c.4521G>T c.2858G>T c.6916G>T (p.Gly2306Cys) n.640G>T c.6841G>T (p.Gly2281Cys) c.6901G>T (p.Gly2301Cys) n.870G>T n.673G>T c.6856G>T (p.Gly2286Cys) c.7015G>T (p.Gly2339Cys) c.7000G>T (p.Gly2334Cys) c.6955G>T (p.Gly2319Cys) c.6937G>T (p.Gly2313Cys) c.6934G>T (p.Gly2312Cys) c.6919G>T (p.Gly2307Cys) c.6892G>T (p.Gly2298Cys) c.6877G>T (p.Gly2293Cys) c.6898G>T (p.Gly2300Cys) c.6874G>T (p.Gly2292Cys) | gnomAD v4 |
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 |