Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.128632272_128632280dupCA173597SPTAN1c.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
9g.128632272_128632280delCA318788SPTAN1c.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
9g.128632269_128632310dupCA2573143910SPTAN1c.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
9g.128632272A=CA1880371266SPTAN1c.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=)
9g.128632272A>CCA375098688SPTAN1c.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)
9g.128632272A>GCA375098691SPTAN1c.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)
9g.128632272A>TCA375098695SPTAN1c.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)
9g.128632273C>ACA200412469SPTAN1c.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
9g.128632273C=CA1880371267SPTAN1c.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=)
9g.128632273C>GCA375098698SPTAN1c.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
9g.128632273C>TCA5265928SPTAN1c.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
9g.128632274_128632282dupCA318767SPTAN1c.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
9g.128632274_128632282delCA913184752SPTAN1c.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
9g.128632274C>ACA375098709SPTAN1c.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)
9g.128632274C>GCA375098705SPTAN1c.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)
9g.128632274C>TCA375098711SPTAN1c.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)
9g.128632275A>CCA375098721SPTAN1c.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)
9g.128632275A>GCA375098717SPTAN1c.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)
9g.128632275A>TCA375098719SPTAN1c.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)
9g.128632276G>ACA467304855SPTAN1c.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=)
9g.128632276G>CCA375098724SPTAN1c.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)
9g.128632276G>TCA375098727SPTAN1c.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)
9g.128632277C>ACA375098733SPTAN1c.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)
9g.128632277C=CA1880371268SPTAN1c.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=)
9g.128632277C>GCA375098741SPTAN1c.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)
9g.128632277C>TCA5265929SPTAN1c.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
9g.128632278T>ACA375098754SPTAN1c.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)
9g.128632278T>CCA375098758SPTAN1c.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)
9g.128632278T>GCA375098759SPTAN1c.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)
9g.128632279G>ACA467304856SPTAN1c.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
9g.128632279G>CCA467304858SPTAN1c.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=)
9g.128632279G>TCA467304857SPTAN1c.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=)
9g.128632280G>ACA375098761SPTAN1c.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
9g.128632280G>CCA375098763SPTAN1c.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)
9g.128632280G=CA1880371269SPTAN1c.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=)
9g.128632280G>TCA375098764SPTAN1c.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
9g.128632281G>ACA375098769SPTAN1c.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)
9g.128632281G>CCA375098782SPTAN1c.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)
9g.128632281G>TCA375098777SPTAN1c.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)
9g.128632287_128632292dupCA318769SPTAN1c.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
9g.128632282C>ACA5265930SPTAN1c.6954C>A (p.Gly2318=)
c.6981C>A (p.Gly2327=)
c.7005C>A (p.Gly2335=)
c.6444C>A (p.Gly2148=)
c.4523C>A
c.2860C>A
c.6918C>A (p.Gly2306=)
n.642C>A
c.6843C>A (p.Gly2281=)
c.6903C>A (p.Gly2301=)
n.872C>A
n.675C>A
c.6858C>A (p.Gly2286=)
c.7017C>A (p.Gly2339=)
c.7002C>A (p.Gly2334=)
c.6957C>A (p.Gly2319=)
c.6939C>A (p.Gly2313=)
c.6936C>A (p.Gly2312=)
c.6921C>A (p.Gly2307=)
c.6894C>A (p.Gly2298=)
c.6879C>A (p.Gly2293=)
c.6900C>A (p.Gly2300=)
c.6876C>A (p.Gly2292=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632282C=CA1880371270SPTAN1c.6954C= (p.Gly2318=)
c.6981C= (p.Gly2327=)
c.7005C= (p.Gly2335=)
c.6444C= (p.Gly2148=)
c.4523C=
c.2860C=
c.6918C= (p.Gly2306=)
n.642C=
c.6843C= (p.Gly2281=)
c.6903C= (p.Gly2301=)
n.872C=
n.675C=
c.6858C= (p.Gly2286=)
c.7017C= (p.Gly2339=)
c.7002C= (p.Gly2334=)
c.6957C= (p.Gly2319=)
c.6939C= (p.Gly2313=)
c.6936C= (p.Gly2312=)
c.6921C= (p.Gly2307=)
c.6894C= (p.Gly2298=)
c.6879C= (p.Gly2293=)
c.6900C= (p.Gly2300=)
c.6876C= (p.Gly2292=)
9g.128632282C>GCA467304859SPTAN1c.6954C>G (p.Gly2318=)
c.6981C>G (p.Gly2327=)
c.7005C>G (p.Gly2335=)
c.6444C>G (p.Gly2148=)
c.4523C>G
c.2860C>G
c.6918C>G (p.Gly2306=)
n.642C>G
c.6843C>G (p.Gly2281=)
c.6903C>G (p.Gly2301=)
n.872C>G
n.675C>G
c.6858C>G (p.Gly2286=)
c.7017C>G (p.Gly2339=)
c.7002C>G (p.Gly2334=)
c.6957C>G (p.Gly2319=)
c.6939C>G (p.Gly2313=)
c.6936C>G (p.Gly2312=)
c.6921C>G (p.Gly2307=)
c.6894C>G (p.Gly2298=)
c.6879C>G (p.Gly2293=)
c.6900C>G (p.Gly2300=)
c.6876C>G (p.Gly2292=)
9g.128632282C>TCA467304860SPTAN1c.6954C>T (p.Gly2318=)
c.6981C>T (p.Gly2327=)
c.7005C>T (p.Gly2335=)
c.6444C>T (p.Gly2148=)
c.4523C>T
c.2860C>T
c.6918C>T (p.Gly2306=)
n.642C>T
c.6843C>T (p.Gly2281=)
c.6903C>T (p.Gly2301=)
n.872C>T
n.675C>T
c.6858C>T (p.Gly2286=)
c.7017C>T (p.Gly2339=)
c.7002C>T (p.Gly2334=)
c.6957C>T (p.Gly2319=)
c.6939C>T (p.Gly2313=)
c.6936C>T (p.Gly2312=)
c.6921C>T (p.Gly2307=)
c.6894C>T (p.Gly2298=)
c.6879C>T (p.Gly2293=)
c.6900C>T (p.Gly2300=)
c.6876C>T (p.Gly2292=)
 dbSNP gnomAD v4 COSMIC COSMIC
9g.128632283A>CCA375098788SPTAN1c.6955A>C (p.Met2319Leu)
c.6982A>C (p.Met2328Leu)
c.7006A>C (p.Met2336Leu)
c.6445A>C (p.Met2149Leu)
c.4524A>C
c.2861A>C
c.6919A>C (p.Met2307Leu)
n.643A>C
c.6844A>C (p.Met2282Leu)
c.6904A>C (p.Met2302Leu)
n.873A>C
n.676A>C
c.6859A>C (p.Met2287Leu)
c.7018A>C (p.Met2340Leu)
c.7003A>C (p.Met2335Leu)
c.6958A>C (p.Met2320Leu)
c.6940A>C (p.Met2314Leu)
c.6937A>C (p.Met2313Leu)
c.6922A>C (p.Met2308Leu)
c.6895A>C (p.Met2299Leu)
c.6880A>C (p.Met2294Leu)
c.6901A>C (p.Met2301Leu)
c.6877A>C (p.Met2293Leu)
9g.128632283A>GCA375098796SPTAN1c.6955A>G (p.Met2319Val)
c.6982A>G (p.Met2328Val)
c.7006A>G (p.Met2336Val)
c.6445A>G (p.Met2149Val)
c.4524A>G
c.2861A>G
c.6919A>G (p.Met2307Val)
n.643A>G
c.6844A>G (p.Met2282Val)
c.6904A>G (p.Met2302Val)
n.873A>G
n.676A>G
c.6859A>G (p.Met2287Val)
c.7018A>G (p.Met2340Val)
c.7003A>G (p.Met2335Val)
c.6958A>G (p.Met2320Val)
c.6940A>G (p.Met2314Val)
c.6937A>G (p.Met2313Val)
c.6922A>G (p.Met2308Val)
c.6895A>G (p.Met2299Val)
c.6880A>G (p.Met2294Val)
c.6901A>G (p.Met2301Val)
c.6877A>G (p.Met2293Val)
9g.128632283A>TCA375098800SPTAN1c.6955A>T (p.Met2319Leu)
c.6982A>T (p.Met2328Leu)
c.7006A>T (p.Met2336Leu)
c.6445A>T (p.Met2149Leu)
c.4524A>T
c.2861A>T
c.6919A>T (p.Met2307Leu)
n.643A>T
c.6844A>T (p.Met2282Leu)
c.6904A>T (p.Met2302Leu)
n.873A>T
n.676A>T
c.6859A>T (p.Met2287Leu)
c.7018A>T (p.Met2340Leu)
c.7003A>T (p.Met2335Leu)
c.6958A>T (p.Met2320Leu)
c.6940A>T (p.Met2314Leu)
c.6937A>T (p.Met2313Leu)
c.6922A>T (p.Met2308Leu)
c.6895A>T (p.Met2299Leu)
c.6880A>T (p.Met2294Leu)
c.6901A>T (p.Met2301Leu)
c.6877A>T (p.Met2293Leu)
9g.128632284T>ACA375098804SPTAN1c.6956T>A (p.Met2319Lys)
c.6983T>A (p.Met2328Lys)
c.7007T>A (p.Met2336Lys)
c.6446T>A (p.Met2149Lys)
c.4525T>A
c.2862T>A
c.6920T>A (p.Met2307Lys)
n.644T>A
c.6845T>A (p.Met2282Lys)
c.6905T>A (p.Met2302Lys)
n.874T>A
n.677T>A
c.6860T>A (p.Met2287Lys)
c.7019T>A (p.Met2340Lys)
c.7004T>A (p.Met2335Lys)
c.6959T>A (p.Met2320Lys)
c.6941T>A (p.Met2314Lys)
c.6938T>A (p.Met2313Lys)
c.6923T>A (p.Met2308Lys)
c.6896T>A (p.Met2299Lys)
c.6881T>A (p.Met2294Lys)
c.6902T>A (p.Met2301Lys)
c.6878T>A (p.Met2293Lys)
9g.128632284T>CCA375098806SPTAN1c.6956T>C (p.Met2319Thr)
c.6983T>C (p.Met2328Thr)
c.7007T>C (p.Met2336Thr)
c.6446T>C (p.Met2149Thr)
c.4525T>C
c.2862T>C
c.6920T>C (p.Met2307Thr)
n.644T>C
c.6845T>C (p.Met2282Thr)
c.6905T>C (p.Met2302Thr)
n.874T>C
n.677T>C
c.6860T>C (p.Met2287Thr)
c.7019T>C (p.Met2340Thr)
c.7004T>C (p.Met2335Thr)
c.6959T>C (p.Met2320Thr)
c.6941T>C (p.Met2314Thr)
c.6938T>C (p.Met2313Thr)
c.6923T>C (p.Met2308Thr)
c.6896T>C (p.Met2299Thr)
c.6881T>C (p.Met2294Thr)
c.6902T>C (p.Met2301Thr)
c.6878T>C (p.Met2293Thr)
9g.128632284T>GCA375098810SPTAN1c.6956T>G (p.Met2319Arg)
c.6983T>G (p.Met2328Arg)
c.7007T>G (p.Met2336Arg)
c.6446T>G (p.Met2149Arg)
c.4525T>G
c.2862T>G
c.6920T>G (p.Met2307Arg)
n.644T>G
c.6845T>G (p.Met2282Arg)
c.6905T>G (p.Met2302Arg)
n.874T>G
n.677T>G
c.6860T>G (p.Met2287Arg)
c.7019T>G (p.Met2340Arg)
c.7004T>G (p.Met2335Arg)
c.6959T>G (p.Met2320Arg)
c.6941T>G (p.Met2314Arg)
c.6938T>G (p.Met2313Arg)
c.6923T>G (p.Met2308Arg)
c.6896T>G (p.Met2299Arg)
c.6881T>G (p.Met2294Arg)
c.6902T>G (p.Met2301Arg)
c.6878T>G (p.Met2293Arg)
9g.128632285G>ACA375098813SPTAN1c.6957G>A (p.Met2319Ile)
c.6984G>A (p.Met2328Ile)
c.7008G>A (p.Met2336Ile)
c.6447G>A (p.Met2149Ile)
c.4526G>A
c.2863G>A
c.6921G>A (p.Met2307Ile)
n.645G>A
c.6846G>A (p.Met2282Ile)
c.6906G>A (p.Met2302Ile)
n.875G>A
n.678G>A
c.6861G>A (p.Met2287Ile)
c.7020G>A (p.Met2340Ile)
c.7005G>A (p.Met2335Ile)
c.6960G>A (p.Met2320Ile)
c.6942G>A (p.Met2314Ile)
c.6939G>A (p.Met2313Ile)
c.6924G>A (p.Met2308Ile)
c.6897G>A (p.Met2299Ile)
c.6882G>A (p.Met2294Ile)
c.6903G>A (p.Met2301Ile)
c.6879G>A (p.Met2293Ile)
9g.128632285G>CCA375098814SPTAN1c.6957G>C (p.Met2319Ile)
c.6984G>C (p.Met2328Ile)
c.7008G>C (p.Met2336Ile)
c.6447G>C (p.Met2149Ile)
c.4526G>C
c.2863G>C
c.6921G>C (p.Met2307Ile)
n.645G>C
c.6846G>C (p.Met2282Ile)
c.6906G>C (p.Met2302Ile)
n.875G>C
n.678G>C
c.6861G>C (p.Met2287Ile)
c.7020G>C (p.Met2340Ile)
c.7005G>C (p.Met2335Ile)
c.6960G>C (p.Met2320Ile)
c.6942G>C (p.Met2314Ile)
c.6939G>C (p.Met2313Ile)
c.6924G>C (p.Met2308Ile)
c.6897G>C (p.Met2299Ile)
c.6882G>C (p.Met2294Ile)
c.6903G>C (p.Met2301Ile)
c.6879G>C (p.Met2293Ile)
9g.128632285G>TCA375098815SPTAN1c.6957G>T (p.Met2319Ile)
c.6984G>T (p.Met2328Ile)
c.7008G>T (p.Met2336Ile)
c.6447G>T (p.Met2149Ile)
c.4526G>T
c.2863G>T
c.6921G>T (p.Met2307Ile)
n.645G>T
c.6846G>T (p.Met2282Ile)
c.6906G>T (p.Met2302Ile)
n.875G>T
n.678G>T
c.6861G>T (p.Met2287Ile)
c.7020G>T (p.Met2340Ile)
c.7005G>T (p.Met2335Ile)
c.6960G>T (p.Met2320Ile)
c.6942G>T (p.Met2314Ile)
c.6939G>T (p.Met2313Ile)
c.6924G>T (p.Met2308Ile)
c.6897G>T (p.Met2299Ile)
c.6882G>T (p.Met2294Ile)
c.6903G>T (p.Met2301Ile)
c.6879G>T (p.Met2293Ile)
9g.128632286C>ACA375098822SPTAN1c.6958C>A (p.Arg2320Ser)
c.6985C>A (p.Arg2329Ser)
c.7009C>A (p.Arg2337Ser)
c.6448C>A (p.Arg2150Ser)
c.4527C>A
c.2864C>A
c.6922C>A (p.Arg2308Ser)
n.646C>A
c.6847C>A (p.Arg2283Ser)
c.6907C>A (p.Arg2303Ser)
n.876C>A
n.679C>A
c.6862C>A (p.Arg2288Ser)
c.7021C>A (p.Arg2341Ser)
c.7006C>A (p.Arg2336Ser)
c.6961C>A (p.Arg2321Ser)
c.6943C>A (p.Arg2315Ser)
c.6940C>A (p.Arg2314Ser)
c.6925C>A (p.Arg2309Ser)
c.6898C>A (p.Arg2300Ser)
c.6883C>A (p.Arg2295Ser)
c.6904C>A (p.Arg2302Ser)
c.6880C>A (p.Arg2294Ser)
9g.128632286C=CA1880371271SPTAN1c.6958C= (p.Arg2320=)
c.6985C= (p.Arg2329=)
c.7009C= (p.Arg2337=)
c.6448C= (p.Arg2150=)
c.4527C=
c.2864C=
c.6922C= (p.Arg2308=)
n.646C=
c.6847C= (p.Arg2283=)
c.6907C= (p.Arg2303=)
n.876C=
n.679C=
c.6862C= (p.Arg2288=)
c.7021C= (p.Arg2341=)
c.7006C= (p.Arg2336=)
c.6961C= (p.Arg2321=)
c.6943C= (p.Arg2315=)
c.6940C= (p.Arg2314=)
c.6925C= (p.Arg2309=)
c.6898C= (p.Arg2300=)
c.6883C= (p.Arg2295=)
c.6904C= (p.Arg2302=)
c.6880C= (p.Arg2294=)
9g.128632286C>GCA375098830SPTAN1c.6958C>G (p.Arg2320Gly)
c.6985C>G (p.Arg2329Gly)
c.7009C>G (p.Arg2337Gly)
c.6448C>G (p.Arg2150Gly)
c.4527C>G
c.2864C>G
c.6922C>G (p.Arg2308Gly)
n.646C>G
c.6847C>G (p.Arg2283Gly)
c.6907C>G (p.Arg2303Gly)
n.876C>G
n.679C>G
c.6862C>G (p.Arg2288Gly)
c.7021C>G (p.Arg2341Gly)
c.7006C>G (p.Arg2336Gly)
c.6961C>G (p.Arg2321Gly)
c.6943C>G (p.Arg2315Gly)
c.6940C>G (p.Arg2314Gly)
c.6925C>G (p.Arg2309Gly)
c.6898C>G (p.Arg2300Gly)
c.6883C>G (p.Arg2295Gly)
c.6904C>G (p.Arg2302Gly)
c.6880C>G (p.Arg2294Gly)
9g.128632286C>TCA318749SPTAN1c.6958C>T (p.Arg2320Cys)
c.6985C>T (p.Arg2329Cys)
c.7009C>T (p.Arg2337Cys)
c.6448C>T (p.Arg2150Cys)
c.4527C>T
c.2864C>T
c.6922C>T (p.Arg2308Cys)
n.646C>T
c.6847C>T (p.Arg2283Cys)
c.6907C>T (p.Arg2303Cys)
n.876C>T
n.679C>T
c.6862C>T (p.Arg2288Cys)
c.7021C>T (p.Arg2341Cys)
c.7006C>T (p.Arg2336Cys)
c.6961C>T (p.Arg2321Cys)
c.6943C>T (p.Arg2315Cys)
c.6940C>T (p.Arg2314Cys)
c.6925C>T (p.Arg2309Cys)
c.6898C>T (p.Arg2300Cys)
c.6883C>T (p.Arg2295Cys)
c.6904C>T (p.Arg2302Cys)
c.6880C>T (p.Arg2294Cys)
 ClinVar dbSNP
9g.128632287G>ACA200412533SPTAN1c.6959G>A (p.Arg2320His)
c.6986G>A (p.Arg2329His)
c.7010G>A (p.Arg2337His)
c.6449G>A (p.Arg2150His)
c.4528G>A
c.2865G>A
c.6923G>A (p.Arg2308His)
n.647G>A
c.6848G>A (p.Arg2283His)
c.6908G>A (p.Arg2303His)
n.877G>A
n.680G>A
c.6863G>A (p.Arg2288His)
c.7022G>A (p.Arg2341His)
c.7007G>A (p.Arg2336His)
c.6962G>A (p.Arg2321His)
c.6944G>A (p.Arg2315His)
c.6941G>A (p.Arg2314His)
c.6926G>A (p.Arg2309His)
c.6899G>A (p.Arg2300His)
c.6884G>A (p.Arg2295His)
c.6905G>A (p.Arg2302His)
c.6881G>A (p.Arg2294His)
 dbSNP COSMIC COSMIC
9g.128632287G>CCA375098833SPTAN1c.6959G>C (p.Arg2320Pro)
c.6986G>C (p.Arg2329Pro)
c.7010G>C (p.Arg2337Pro)
c.6449G>C (p.Arg2150Pro)
c.4528G>C
c.2865G>C
c.6923G>C (p.Arg2308Pro)
n.647G>C
c.6848G>C (p.Arg2283Pro)
c.6908G>C (p.Arg2303Pro)
n.877G>C
n.680G>C
c.6863G>C (p.Arg2288Pro)
c.7022G>C (p.Arg2341Pro)
c.7007G>C (p.Arg2336Pro)
c.6962G>C (p.Arg2321Pro)
c.6944G>C (p.Arg2315Pro)
c.6941G>C (p.Arg2314Pro)
c.6926G>C (p.Arg2309Pro)
c.6899G>C (p.Arg2300Pro)
c.6884G>C (p.Arg2295Pro)
c.6905G>C (p.Arg2302Pro)
c.6881G>C (p.Arg2294Pro)
9g.128632287G=CA1880371272SPTAN1c.6959G= (p.Arg2320=)
c.6986G= (p.Arg2329=)
c.7010G= (p.Arg2337=)
c.6449G= (p.Arg2150=)
c.4528G=
c.2865G=
c.6923G= (p.Arg2308=)
n.647G=
c.6848G= (p.Arg2283=)
c.6908G= (p.Arg2303=)
n.877G=
n.680G=
c.6863G= (p.Arg2288=)
c.7022G= (p.Arg2341=)
c.7007G= (p.Arg2336=)
c.6962G= (p.Arg2321=)
c.6944G= (p.Arg2315=)
c.6941G= (p.Arg2314=)
c.6926G= (p.Arg2309=)
c.6899G= (p.Arg2300=)
c.6884G= (p.Arg2295=)
c.6905G= (p.Arg2302=)
c.6881G= (p.Arg2294=)
9g.128632287G>TCA375098835SPTAN1c.6959G>T (p.Arg2320Leu)
c.6986G>T (p.Arg2329Leu)
c.7010G>T (p.Arg2337Leu)
c.6449G>T (p.Arg2150Leu)
c.4528G>T
c.2865G>T
c.6923G>T (p.Arg2308Leu)
n.647G>T
c.6848G>T (p.Arg2283Leu)
c.6908G>T (p.Arg2303Leu)
n.877G>T
n.680G>T
c.6863G>T (p.Arg2288Leu)
c.7022G>T (p.Arg2341Leu)
c.7007G>T (p.Arg2336Leu)
c.6962G>T (p.Arg2321Leu)
c.6944G>T (p.Arg2315Leu)
c.6941G>T (p.Arg2314Leu)
c.6926G>T (p.Arg2309Leu)
c.6899G>T (p.Arg2300Leu)
c.6884G>T (p.Arg2295Leu)
c.6905G>T (p.Arg2302Leu)
c.6881G>T (p.Arg2294Leu)
9g.128632288C>ACA467304863SPTAN1c.6960C>A (p.Arg2320=)
c.6987C>A (p.Arg2329=)
c.7011C>A (p.Arg2337=)
c.6450C>A (p.Arg2150=)
c.4529C>A
c.2866C>A
c.6924C>A (p.Arg2308=)
n.648C>A
c.6849C>A (p.Arg2283=)
c.6909C>A (p.Arg2303=)
n.878C>A
n.681C>A
c.6864C>A (p.Arg2288=)
c.7023C>A (p.Arg2341=)
c.7008C>A (p.Arg2336=)
c.6963C>A (p.Arg2321=)
c.6945C>A (p.Arg2315=)
c.6942C>A (p.Arg2314=)
c.6927C>A (p.Arg2309=)
c.6900C>A (p.Arg2300=)
c.6885C>A (p.Arg2295=)
c.6906C>A (p.Arg2302=)
c.6882C>A (p.Arg2294=)
9g.128632288C>GCA467304861SPTAN1c.6960C>G (p.Arg2320=)
c.6987C>G (p.Arg2329=)
c.7011C>G (p.Arg2337=)
c.6450C>G (p.Arg2150=)
c.4529C>G
c.2866C>G
c.6924C>G (p.Arg2308=)
n.648C>G
c.6849C>G (p.Arg2283=)
c.6909C>G (p.Arg2303=)
n.878C>G
n.681C>G
c.6864C>G (p.Arg2288=)
c.7023C>G (p.Arg2341=)
c.7008C>G (p.Arg2336=)
c.6963C>G (p.Arg2321=)
c.6945C>G (p.Arg2315=)
c.6942C>G (p.Arg2314=)
c.6927C>G (p.Arg2309=)
c.6900C>G (p.Arg2300=)
c.6885C>G (p.Arg2295=)
c.6906C>G (p.Arg2302=)
c.6882C>G (p.Arg2294=)
9g.128632288C>TCA467304862SPTAN1c.6960C>T (p.Arg2320=)
c.6987C>T (p.Arg2329=)
c.7011C>T (p.Arg2337=)
c.6450C>T (p.Arg2150=)
c.4529C>T
c.2866C>T
c.6924C>T (p.Arg2308=)
n.648C>T
c.6849C>T (p.Arg2283=)
c.6909C>T (p.Arg2303=)
n.878C>T
n.681C>T
c.6864C>T (p.Arg2288=)
c.7023C>T (p.Arg2341=)
c.7008C>T (p.Arg2336=)
c.6963C>T (p.Arg2321=)
c.6945C>T (p.Arg2315=)
c.6942C>T (p.Arg2314=)
c.6927C>T (p.Arg2309=)
c.6900C>T (p.Arg2300=)
c.6885C>T (p.Arg2295=)
c.6906C>T (p.Arg2302=)
c.6882C>T (p.Arg2294=)
 gnomAD v4
9g.128632288_128632293dupCA2580079753SPTAN1c.6960_6965dup (p.Met2321_Gln2322insHisMet)
c.6987_6992dup (p.Met2330_Gln2331insHisMet)
c.7011_7016dup (p.Met2338_Gln2339insHisMet)
c.6450_6455dup (p.Met2151_Gln2152insHisMet)
c.4529_4534dup
c.2866_2871dup
c.6924_6929dup (p.Met2309_Gln2310insHisMet)
n.648_653dup
c.6849_6854dup (p.Met2284_Gln2285insHisMet)
c.6909_6914dup (p.Met2304_Gln2305insHisMet)
n.878_883dup
n.681_686dup
c.6864_6869dup (p.Met2289_Gln2290insHisMet)
c.7023_7028dup (p.Met2342_Gln2343insHisMet)
c.7008_7013dup (p.Met2337_Gln2338insHisMet)
c.6963_6968dup (p.Met2322_Gln2323insHisMet)
c.6945_6950dup (p.Met2316_Gln2317insHisMet)
c.6942_6947dup (p.Met2315_Gln2316insHisMet)
c.6927_6932dup (p.Met2310_Gln2311insHisMet)
c.6900_6905dup (p.Met2301_Gln2302insHisMet)
c.6885_6890dup (p.Met2296_Gln2297insHisMet)
c.6906_6911dup (p.Met2303_Gln2304insHisMet)
c.6882_6887dup (p.Met2295_Gln2296insHisMet)
 ClinVar
9g.128632289A>CCA375098838SPTAN1c.6961A>C (p.Met2321Leu)
c.6988A>C (p.Met2330Leu)
c.7012A>C (p.Met2338Leu)
c.6451A>C (p.Met2151Leu)
c.4530A>C
c.2867A>C
c.6925A>C (p.Met2309Leu)
n.649A>C
c.6850A>C (p.Met2284Leu)
c.6910A>C (p.Met2304Leu)
n.879A>C
n.682A>C
c.6865A>C (p.Met2289Leu)
c.7024A>C (p.Met2342Leu)
c.7009A>C (p.Met2337Leu)
c.6964A>C (p.Met2322Leu)
c.6946A>C (p.Met2316Leu)
c.6943A>C (p.Met2315Leu)
c.6928A>C (p.Met2310Leu)
c.6901A>C (p.Met2301Leu)
c.6886A>C (p.Met2296Leu)
c.6907A>C (p.Met2303Leu)
c.6883A>C (p.Met2295Leu)
9g.128632289A>GCA375098844SPTAN1c.6961A>G (p.Met2321Val)
c.6988A>G (p.Met2330Val)
c.7012A>G (p.Met2338Val)
c.6451A>G (p.Met2151Val)
c.4530A>G
c.2867A>G
c.6925A>G (p.Met2309Val)
n.649A>G
c.6850A>G (p.Met2284Val)
c.6910A>G (p.Met2304Val)
n.879A>G
n.682A>G
c.6865A>G (p.Met2289Val)
c.7024A>G (p.Met2342Val)
c.7009A>G (p.Met2337Val)
c.6964A>G (p.Met2322Val)
c.6946A>G (p.Met2316Val)
c.6943A>G (p.Met2315Val)
c.6928A>G (p.Met2310Val)
c.6901A>G (p.Met2301Val)
c.6886A>G (p.Met2296Val)
c.6907A>G (p.Met2303Val)
c.6883A>G (p.Met2295Val)
9g.128632289A>TCA375098852SPTAN1c.6961A>T (p.Met2321Leu)
c.6988A>T (p.Met2330Leu)
c.7012A>T (p.Met2338Leu)
c.6451A>T (p.Met2151Leu)
c.4530A>T
c.2867A>T
c.6925A>T (p.Met2309Leu)
n.649A>T
c.6850A>T (p.Met2284Leu)
c.6910A>T (p.Met2304Leu)
n.879A>T
n.682A>T
c.6865A>T (p.Met2289Leu)
c.7024A>T (p.Met2342Leu)
c.7009A>T (p.Met2337Leu)
c.6964A>T (p.Met2322Leu)
c.6946A>T (p.Met2316Leu)
c.6943A>T (p.Met2315Leu)
c.6928A>T (p.Met2310Leu)
c.6901A>T (p.Met2301Leu)
c.6886A>T (p.Met2296Leu)
c.6907A>T (p.Met2303Leu)
c.6883A>T (p.Met2295Leu)
9g.128632290T>ACA375098862SPTAN1c.6962T>A (p.Met2321Lys)
c.6989T>A (p.Met2330Lys)
c.7013T>A (p.Met2338Lys)
c.6452T>A (p.Met2151Lys)
c.4531T>A
c.2868T>A
c.6926T>A (p.Met2309Lys)
n.650T>A
c.6851T>A (p.Met2284Lys)
c.6911T>A (p.Met2304Lys)
n.880T>A
n.683T>A
c.6866T>A (p.Met2289Lys)
c.7025T>A (p.Met2342Lys)
c.7010T>A (p.Met2337Lys)
c.6965T>A (p.Met2322Lys)
c.6947T>A (p.Met2316Lys)
c.6944T>A (p.Met2315Lys)
c.6929T>A (p.Met2310Lys)
c.6902T>A (p.Met2301Lys)
c.6887T>A (p.Met2296Lys)
c.6908T>A (p.Met2303Lys)
c.6884T>A (p.Met2295Lys)
9g.128632290T>CCA375098866SPTAN1c.6962T>C (p.Met2321Thr)
c.6989T>C (p.Met2330Thr)
c.7013T>C (p.Met2338Thr)
c.6452T>C (p.Met2151Thr)
c.4531T>C
c.2868T>C
c.6926T>C (p.Met2309Thr)
n.650T>C
c.6851T>C (p.Met2284Thr)
c.6911T>C (p.Met2304Thr)
n.880T>C
n.683T>C
c.6866T>C (p.Met2289Thr)
c.7025T>C (p.Met2342Thr)
c.7010T>C (p.Met2337Thr)
c.6965T>C (p.Met2322Thr)
c.6947T>C (p.Met2316Thr)
c.6944T>C (p.Met2315Thr)
c.6929T>C (p.Met2310Thr)
c.6902T>C (p.Met2301Thr)
c.6887T>C (p.Met2296Thr)
c.6908T>C (p.Met2303Thr)
c.6884T>C (p.Met2295Thr)
9g.128632290T>GCA375098869SPTAN1c.6962T>G (p.Met2321Arg)
c.6989T>G (p.Met2330Arg)
c.7013T>G (p.Met2338Arg)
c.6452T>G (p.Met2151Arg)
c.4531T>G
c.2868T>G
c.6926T>G (p.Met2309Arg)
n.650T>G
c.6851T>G (p.Met2284Arg)
c.6911T>G (p.Met2304Arg)
n.880T>G
n.683T>G
c.6866T>G (p.Met2289Arg)
c.7025T>G (p.Met2342Arg)
c.7010T>G (p.Met2337Arg)
c.6965T>G (p.Met2322Arg)
c.6947T>G (p.Met2316Arg)
c.6944T>G (p.Met2315Arg)
c.6929T>G (p.Met2310Arg)
c.6902T>G (p.Met2301Arg)
c.6887T>G (p.Met2296Arg)
c.6908T>G (p.Met2303Arg)
c.6884T>G (p.Met2295Arg)
9g.128632291G>ACA375098870SPTAN1c.6963G>A (p.Met2321Ile)
c.6990G>A (p.Met2330Ile)
c.7014G>A (p.Met2338Ile)
c.6453G>A (p.Met2151Ile)
c.4532G>A
c.2869G>A
c.6927G>A (p.Met2309Ile)
n.651G>A
c.6852G>A (p.Met2284Ile)
c.6912G>A (p.Met2304Ile)
n.881G>A
n.684G>A
c.6867G>A (p.Met2289Ile)
c.7026G>A (p.Met2342Ile)
c.7011G>A (p.Met2337Ile)
c.6966G>A (p.Met2322Ile)
c.6948G>A (p.Met2316Ile)
c.6945G>A (p.Met2315Ile)
c.6930G>A (p.Met2310Ile)
c.6903G>A (p.Met2301Ile)
c.6888G>A (p.Met2296Ile)
c.6909G>A (p.Met2303Ile)
c.6885G>A (p.Met2295Ile)
9g.128632291G>CCA375098871SPTAN1c.6963G>C (p.Met2321Ile)
c.6990G>C (p.Met2330Ile)
c.7014G>C (p.Met2338Ile)
c.6453G>C (p.Met2151Ile)
c.4532G>C
c.2869G>C
c.6927G>C (p.Met2309Ile)
n.651G>C
c.6852G>C (p.Met2284Ile)
c.6912G>C (p.Met2304Ile)
n.881G>C
n.684G>C
c.6867G>C (p.Met2289Ile)
c.7026G>C (p.Met2342Ile)
c.7011G>C (p.Met2337Ile)
c.6966G>C (p.Met2322Ile)
c.6948G>C (p.Met2316Ile)
c.6945G>C (p.Met2315Ile)
c.6930G>C (p.Met2310Ile)
c.6903G>C (p.Met2301Ile)
c.6888G>C (p.Met2296Ile)
c.6909G>C (p.Met2303Ile)
c.6885G>C (p.Met2295Ile)
9g.128632291G>TCA375098872SPTAN1c.6963G>T (p.Met2321Ile)
c.6990G>T (p.Met2330Ile)
c.7014G>T (p.Met2338Ile)
c.6453G>T (p.Met2151Ile)
c.4532G>T
c.2869G>T
c.6927G>T (p.Met2309Ile)
n.651G>T
c.6852G>T (p.Met2284Ile)
c.6912G>T (p.Met2304Ile)
n.881G>T
n.684G>T
c.6867G>T (p.Met2289Ile)
c.7026G>T (p.Met2342Ile)
c.7011G>T (p.Met2337Ile)
c.6966G>T (p.Met2322Ile)
c.6948G>T (p.Met2316Ile)
c.6945G>T (p.Met2315Ile)
c.6930G>T (p.Met2310Ile)
c.6903G>T (p.Met2301Ile)
c.6888G>T (p.Met2296Ile)
c.6909G>T (p.Met2303Ile)
c.6885G>T (p.Met2295Ile)
9g.128632292C>ACA375098877SPTAN1c.6964C>A (p.Gln2322Lys)
c.6991C>A (p.Gln2331Lys)
c.7015C>A (p.Gln2339Lys)
c.6454C>A (p.Gln2152Lys)
c.4533C>A
c.2870C>A
c.6928C>A (p.Gln2310Lys)
n.652C>A
c.6853C>A (p.Gln2285Lys)
c.6913C>A (p.Gln2305Lys)
n.882C>A
n.685C>A
c.6868C>A (p.Gln2290Lys)
c.7027C>A (p.Gln2343Lys)
c.7012C>A (p.Gln2338Lys)
c.6967C>A (p.Gln2323Lys)
c.6949C>A (p.Gln2317Lys)
c.6946C>A (p.Gln2316Lys)
c.6931C>A (p.Gln2311Lys)
c.6904C>A (p.Gln2302Lys)
c.6889C>A (p.Gln2297Lys)
c.6910C>A (p.Gln2304Lys)
c.6886C>A (p.Gln2296Lys)
9g.128632292C>GCA375098874SPTAN1c.6964C>G (p.Gln2322Glu)
c.6991C>G (p.Gln2331Glu)
c.7015C>G (p.Gln2339Glu)
c.6454C>G (p.Gln2152Glu)
c.4533C>G
c.2870C>G
c.6928C>G (p.Gln2310Glu)
n.652C>G
c.6853C>G (p.Gln2285Glu)
c.6913C>G (p.Gln2305Glu)
n.882C>G
n.685C>G
c.6868C>G (p.Gln2290Glu)
c.7027C>G (p.Gln2343Glu)
c.7012C>G (p.Gln2338Glu)
c.6967C>G (p.Gln2323Glu)
c.6949C>G (p.Gln2317Glu)
c.6946C>G (p.Gln2316Glu)
c.6931C>G (p.Gln2311Glu)
c.6904C>G (p.Gln2302Glu)
c.6889C>G (p.Gln2297Glu)
c.6910C>G (p.Gln2304Glu)
c.6886C>G (p.Gln2296Glu)
9g.128632292C>TCA375098875SPTAN1c.6964C>T (p.Gln2322Ter)
c.6991C>T (p.Gln2331Ter)
c.7015C>T (p.Gln2339Ter)
c.6454C>T (p.Gln2152Ter)
c.4533C>T
c.2870C>T
c.6928C>T (p.Gln2310Ter)
n.652C>T
c.6853C>T (p.Gln2285Ter)
c.6913C>T (p.Gln2305Ter)
n.882C>T
n.685C>T
c.6868C>T (p.Gln2290Ter)
c.7027C>T (p.Gln2343Ter)
c.7012C>T (p.Gln2338Ter)
c.6967C>T (p.Gln2323Ter)
c.6949C>T (p.Gln2317Ter)
c.6946C>T (p.Gln2316Ter)
c.6931C>T (p.Gln2311Ter)
c.6904C>T (p.Gln2302Ter)
c.6889C>T (p.Gln2297Ter)
c.6910C>T (p.Gln2304Ter)
c.6886C>T (p.Gln2296Ter)
9g.128632293A>CCA375098878SPTAN1c.6965A>C (p.Gln2322Pro)
c.6992A>C (p.Gln2331Pro)
c.7016A>C (p.Gln2339Pro)
c.6455A>C (p.Gln2152Pro)
c.4534A>C
c.2871A>C
c.6929A>C (p.Gln2310Pro)
n.653A>C
c.6854A>C (p.Gln2285Pro)
c.6914A>C (p.Gln2305Pro)
n.883A>C
n.686A>C
c.6869A>C (p.Gln2290Pro)
c.7028A>C (p.Gln2343Pro)
c.7013A>C (p.Gln2338Pro)
c.6968A>C (p.Gln2323Pro)
c.6950A>C (p.Gln2317Pro)
c.6947A>C (p.Gln2316Pro)
c.6932A>C (p.Gln2311Pro)
c.6905A>C (p.Gln2302Pro)
c.6890A>C (p.Gln2297Pro)
c.6911A>C (p.Gln2304Pro)
c.6887A>C (p.Gln2296Pro)
9g.128632293A>GCA375098880SPTAN1c.6965A>G (p.Gln2322Arg)
c.6992A>G (p.Gln2331Arg)
c.7016A>G (p.Gln2339Arg)
c.6455A>G (p.Gln2152Arg)
c.4534A>G
c.2871A>G
c.6929A>G (p.Gln2310Arg)
n.653A>G
c.6854A>G (p.Gln2285Arg)
c.6914A>G (p.Gln2305Arg)
n.883A>G
n.686A>G
c.6869A>G (p.Gln2290Arg)
c.7028A>G (p.Gln2343Arg)
c.7013A>G (p.Gln2338Arg)
c.6968A>G (p.Gln2323Arg)
c.6950A>G (p.Gln2317Arg)
c.6947A>G (p.Gln2316Arg)
c.6932A>G (p.Gln2311Arg)
c.6905A>G (p.Gln2302Arg)
c.6890A>G (p.Gln2297Arg)
c.6911A>G (p.Gln2304Arg)
c.6887A>G (p.Gln2296Arg)
9g.128632293A>TCA375098882SPTAN1c.6965A>T (p.Gln2322Leu)
c.6992A>T (p.Gln2331Leu)
c.7016A>T (p.Gln2339Leu)
c.6455A>T (p.Gln2152Leu)
c.4534A>T
c.2871A>T
c.6929A>T (p.Gln2310Leu)
n.653A>T
c.6854A>T (p.Gln2285Leu)
c.6914A>T (p.Gln2305Leu)
n.883A>T
n.686A>T
c.6869A>T (p.Gln2290Leu)
c.7028A>T (p.Gln2343Leu)
c.7013A>T (p.Gln2338Leu)
c.6968A>T (p.Gln2323Leu)
c.6950A>T (p.Gln2317Leu)
c.6947A>T (p.Gln2316Leu)
c.6932A>T (p.Gln2311Leu)
c.6905A>T (p.Gln2302Leu)
c.6890A>T (p.Gln2297Leu)
c.6911A>T (p.Gln2304Leu)
c.6887A>T (p.Gln2296Leu)
9g.128632294G>ACA467304864SPTAN1c.6966G>A (p.Gln2322=)
c.6993G>A (p.Gln2331=)
c.7017G>A (p.Gln2339=)
c.6456G>A (p.Gln2152=)
c.4535G>A
c.2872G>A
c.6930G>A (p.Gln2310=)
n.654G>A
c.6855G>A (p.Gln2285=)
c.6915G>A (p.Gln2305=)
n.884G>A
n.687G>A
c.6870G>A (p.Gln2290=)
c.7029G>A (p.Gln2343=)
c.7014G>A (p.Gln2338=)
c.6969G>A (p.Gln2323=)
c.6951G>A (p.Gln2317=)
c.6948G>A (p.Gln2316=)
c.6933G>A (p.Gln2311=)
c.6906G>A (p.Gln2302=)
c.6891G>A (p.Gln2297=)
c.6912G>A (p.Gln2304=)
c.6888G>A (p.Gln2296=)
9g.128632294G>CCA375098886SPTAN1c.6966G>C (p.Gln2322His)
c.6993G>C (p.Gln2331His)
c.7017G>C (p.Gln2339His)
c.6456G>C (p.Gln2152His)
c.4535G>C
c.2872G>C
c.6930G>C (p.Gln2310His)
n.654G>C
c.6855G>C (p.Gln2285His)
c.6915G>C (p.Gln2305His)
n.884G>C
n.687G>C
c.6870G>C (p.Gln2290His)
c.7029G>C (p.Gln2343His)
c.7014G>C (p.Gln2338His)
c.6969G>C (p.Gln2323His)
c.6951G>C (p.Gln2317His)
c.6948G>C (p.Gln2316His)
c.6933G>C (p.Gln2311His)
c.6906G>C (p.Gln2302His)
c.6891G>C (p.Gln2297His)
c.6912G>C (p.Gln2304His)
c.6888G>C (p.Gln2296His)
 dbSNP gnomAD v2 gnomAD v4
9g.128632294G=CA1880371273SPTAN1c.6966G= (p.Gln2322=)
c.6993G= (p.Gln2331=)
c.7017G= (p.Gln2339=)
c.6456G= (p.Gln2152=)
c.4535G=
c.2872G=
c.6930G= (p.Gln2310=)
n.654G=
c.6855G= (p.Gln2285=)
c.6915G= (p.Gln2305=)
n.884G=
n.687G=
c.6870G= (p.Gln2290=)
c.7029G= (p.Gln2343=)
c.7014G= (p.Gln2338=)
c.6969G= (p.Gln2323=)
c.6951G= (p.Gln2317=)
c.6948G= (p.Gln2316=)
c.6933G= (p.Gln2311=)
c.6906G= (p.Gln2302=)
c.6891G= (p.Gln2297=)
c.6912G= (p.Gln2304=)
c.6888G= (p.Gln2296=)
9g.128632294G>TCA375098888SPTAN1c.6966G>T (p.Gln2322His)
c.6993G>T (p.Gln2331His)
c.7017G>T (p.Gln2339His)
c.6456G>T (p.Gln2152His)
c.4535G>T
c.2872G>T
c.6930G>T (p.Gln2310His)
n.654G>T
c.6855G>T (p.Gln2285His)
c.6915G>T (p.Gln2305His)
n.884G>T
n.687G>T
c.6870G>T (p.Gln2290His)
c.7029G>T (p.Gln2343His)
c.7014G>T (p.Gln2338His)
c.6969G>T (p.Gln2323His)
c.6951G>T (p.Gln2317His)
c.6948G>T (p.Gln2316His)
c.6933G>T (p.Gln2311His)
c.6906G>T (p.Gln2302His)
c.6891G>T (p.Gln2297His)
c.6912G>T (p.Gln2304His)
c.6888G>T (p.Gln2296His)
9g.128632295C>ACA375098891SPTAN1c.6967C>A (p.His2323Asn)
c.6994C>A (p.His2332Asn)
c.7018C>A (p.His2340Asn)
c.6457C>A (p.His2153Asn)
c.4536C>A
c.2873C>A
c.6931C>A (p.His2311Asn)
n.655C>A
c.6856C>A (p.His2286Asn)
c.6916C>A (p.His2306Asn)
n.885C>A
n.688C>A
c.6871C>A (p.His2291Asn)
c.7030C>A (p.His2344Asn)
c.7015C>A (p.His2339Asn)
c.6970C>A (p.His2324Asn)
c.6952C>A (p.His2318Asn)
c.6949C>A (p.His2317Asn)
c.6934C>A (p.His2312Asn)
c.6907C>A (p.His2303Asn)
c.6892C>A (p.His2298Asn)
c.6913C>A (p.His2305Asn)
c.6889C>A (p.His2297Asn)
9g.128632295C>GCA375098894SPTAN1c.6967C>G (p.His2323Asp)
c.6994C>G (p.His2332Asp)
c.7018C>G (p.His2340Asp)
c.6457C>G (p.His2153Asp)
c.4536C>G
c.2873C>G
c.6931C>G (p.His2311Asp)
n.655C>G
c.6856C>G (p.His2286Asp)
c.6916C>G (p.His2306Asp)
n.885C>G
n.688C>G
c.6871C>G (p.His2291Asp)
c.7030C>G (p.His2344Asp)
c.7015C>G (p.His2339Asp)
c.6970C>G (p.His2324Asp)
c.6952C>G (p.His2318Asp)
c.6949C>G (p.His2317Asp)
c.6934C>G (p.His2312Asp)
c.6907C>G (p.His2303Asp)
c.6892C>G (p.His2298Asp)
c.6913C>G (p.His2305Asp)
c.6889C>G (p.His2297Asp)
9g.128632295C>TCA375098897SPTAN1c.6967C>T (p.His2323Tyr)
c.6994C>T (p.His2332Tyr)
c.7018C>T (p.His2340Tyr)
c.6457C>T (p.His2153Tyr)
c.4536C>T
c.2873C>T
c.6931C>T (p.His2311Tyr)
n.655C>T
c.6856C>T (p.His2286Tyr)
c.6916C>T (p.His2306Tyr)
n.885C>T
n.688C>T
c.6871C>T (p.His2291Tyr)
c.7030C>T (p.His2344Tyr)
c.7015C>T (p.His2339Tyr)
c.6970C>T (p.His2324Tyr)
c.6952C>T (p.His2318Tyr)
c.6949C>T (p.His2317Tyr)
c.6934C>T (p.His2312Tyr)
c.6907C>T (p.His2303Tyr)
c.6892C>T (p.His2298Tyr)
c.6913C>T (p.His2305Tyr)
c.6889C>T (p.His2297Tyr)
9g.128632296A>CCA375098899SPTAN1c.6968A>C (p.His2323Pro)
c.6995A>C (p.His2332Pro)
c.7019A>C (p.His2340Pro)
c.6458A>C (p.His2153Pro)
c.4537A>C
c.2874A>C
c.6932A>C (p.His2311Pro)
n.656A>C
c.6857A>C (p.His2286Pro)
c.6917A>C (p.His2306Pro)
n.886A>C
n.689A>C
c.6872A>C (p.His2291Pro)
c.7031A>C (p.His2344Pro)
c.7016A>C (p.His2339Pro)
c.6971A>C (p.His2324Pro)
c.6953A>C (p.His2318Pro)
c.6950A>C (p.His2317Pro)
c.6935A>C (p.His2312Pro)
c.6908A>C (p.His2303Pro)
c.6893A>C (p.His2298Pro)
c.6914A>C (p.His2305Pro)
c.6890A>C (p.His2297Pro)
9g.128632296A>GCA375098901SPTAN1c.6968A>G (p.His2323Arg)
c.6995A>G (p.His2332Arg)
c.7019A>G (p.His2340Arg)
c.6458A>G (p.His2153Arg)
c.4537A>G
c.2874A>G
c.6932A>G (p.His2311Arg)
n.656A>G
c.6857A>G (p.His2286Arg)
c.6917A>G (p.His2306Arg)
n.886A>G
n.689A>G
c.6872A>G (p.His2291Arg)
c.7031A>G (p.His2344Arg)
c.7016A>G (p.His2339Arg)
c.6971A>G (p.His2324Arg)
c.6953A>G (p.His2318Arg)
c.6950A>G (p.His2317Arg)
c.6935A>G (p.His2312Arg)
c.6908A>G (p.His2303Arg)
c.6893A>G (p.His2298Arg)
c.6914A>G (p.His2305Arg)
c.6890A>G (p.His2297Arg)
 COSMIC COSMIC
9g.128632296A>TCA375098903SPTAN1c.6968A>T (p.His2323Leu)
c.6995A>T (p.His2332Leu)
c.7019A>T (p.His2340Leu)
c.6458A>T (p.His2153Leu)
c.4537A>T
c.2874A>T
c.6932A>T (p.His2311Leu)
n.656A>T
c.6857A>T (p.His2286Leu)
c.6917A>T (p.His2306Leu)
n.886A>T
n.689A>T
c.6872A>T (p.His2291Leu)
c.7031A>T (p.His2344Leu)
c.7016A>T (p.His2339Leu)
c.6971A>T (p.His2324Leu)
c.6953A>T (p.His2318Leu)
c.6950A>T (p.His2317Leu)
c.6935A>T (p.His2312Leu)
c.6908A>T (p.His2303Leu)
c.6893A>T (p.His2298Leu)
c.6914A>T (p.His2305Leu)
c.6890A>T (p.His2297Leu)
9g.128632297C>ACA375098907SPTAN1c.6969C>A (p.His2323Gln)
c.6996C>A (p.His2332Gln)
c.7020C>A (p.His2340Gln)
c.6459C>A (p.His2153Gln)
c.4538C>A
c.2875C>A
c.6933C>A (p.His2311Gln)
n.657C>A
c.6858C>A (p.His2286Gln)
c.6918C>A (p.His2306Gln)
n.887C>A
n.690C>A
c.6873C>A (p.His2291Gln)
c.7032C>A (p.His2344Gln)
c.7017C>A (p.His2339Gln)
c.6972C>A (p.His2324Gln)
c.6954C>A (p.His2318Gln)
c.6951C>A (p.His2317Gln)
c.6936C>A (p.His2312Gln)
c.6909C>A (p.His2303Gln)
c.6894C>A (p.His2298Gln)
c.6915C>A (p.His2305Gln)
c.6891C>A (p.His2297Gln)
9g.128632297C>GCA375098910SPTAN1c.6969C>G (p.His2323Gln)
c.6996C>G (p.His2332Gln)
c.7020C>G (p.His2340Gln)
c.6459C>G (p.His2153Gln)
c.4538C>G
c.2875C>G
c.6933C>G (p.His2311Gln)
n.657C>G
c.6858C>G (p.His2286Gln)
c.6918C>G (p.His2306Gln)
n.887C>G
n.690C>G
c.6873C>G (p.His2291Gln)
c.7032C>G (p.His2344Gln)
c.7017C>G (p.His2339Gln)
c.6972C>G (p.His2324Gln)
c.6954C>G (p.His2318Gln)
c.6951C>G (p.His2317Gln)
c.6936C>G (p.His2312Gln)
c.6909C>G (p.His2303Gln)
c.6894C>G (p.His2298Gln)
c.6915C>G (p.His2305Gln)
c.6891C>G (p.His2297Gln)
9g.128632297C>TCA467304865SPTAN1c.6969C>T (p.His2323=)
c.6996C>T (p.His2332=)
c.7020C>T (p.His2340=)
c.6459C>T (p.His2153=)
c.4538C>T
c.2875C>T
c.6933C>T (p.His2311=)
n.657C>T
c.6858C>T (p.His2286=)
c.6918C>T (p.His2306=)
n.887C>T
n.690C>T
c.6873C>T (p.His2291=)
c.7032C>T (p.His2344=)
c.7017C>T (p.His2339=)
c.6972C>T (p.His2324=)
c.6954C>T (p.His2318=)
c.6951C>T (p.His2317=)
c.6936C>T (p.His2312=)
c.6909C>T (p.His2303=)
c.6894C>T (p.His2298=)
c.6915C>T (p.His2305=)
c.6891C>T (p.His2297=)
9g.128632298A>CCA375098937SPTAN1c.6970A>C (p.Asn2324His)
c.6997A>C (p.Asn2333His)
c.7021A>C (p.Asn2341His)
c.6460A>C (p.Asn2154His)
c.4539A>C
c.2876A>C
c.6934A>C (p.Asn2312His)
n.658A>C
c.6859A>C (p.Asn2287His)
c.6919A>C (p.Asn2307His)
n.888A>C
n.691A>C
c.6874A>C (p.Asn2292His)
c.7033A>C (p.Asn2345His)
c.7018A>C (p.Asn2340His)
c.6973A>C (p.Asn2325His)
c.6955A>C (p.Asn2319His)
c.6952A>C (p.Asn2318His)
c.6937A>C (p.Asn2313His)
c.6910A>C (p.Asn2304His)
c.6895A>C (p.Asn2299His)
c.6916A>C (p.Asn2306His)
c.6892A>C (p.Asn2298His)
9g.128632298A>GCA375098923SPTAN1c.6970A>G (p.Asn2324Asp)
c.6997A>G (p.Asn2333Asp)
c.7021A>G (p.Asn2341Asp)
c.6460A>G (p.Asn2154Asp)
c.4539A>G
c.2876A>G
c.6934A>G (p.Asn2312Asp)
n.658A>G
c.6859A>G (p.Asn2287Asp)
c.6919A>G (p.Asn2307Asp)
n.888A>G
n.691A>G
c.6874A>G (p.Asn2292Asp)
c.7033A>G (p.Asn2345Asp)
c.7018A>G (p.Asn2340Asp)
c.6973A>G (p.Asn2325Asp)
c.6955A>G (p.Asn2319Asp)
c.6952A>G (p.Asn2318Asp)
c.6937A>G (p.Asn2313Asp)
c.6910A>G (p.Asn2304Asp)
c.6895A>G (p.Asn2299Asp)
c.6916A>G (p.Asn2306Asp)
c.6892A>G (p.Asn2298Asp)
9g.128632298A>TCA375098919SPTAN1c.6970A>T (p.Asn2324Tyr)
c.6997A>T (p.Asn2333Tyr)
c.7021A>T (p.Asn2341Tyr)
c.6460A>T (p.Asn2154Tyr)
c.4539A>T
c.2876A>T
c.6934A>T (p.Asn2312Tyr)
n.658A>T
c.6859A>T (p.Asn2287Tyr)
c.6919A>T (p.Asn2307Tyr)
n.888A>T
n.691A>T
c.6874A>T (p.Asn2292Tyr)
c.7033A>T (p.Asn2345Tyr)
c.7018A>T (p.Asn2340Tyr)
c.6973A>T (p.Asn2325Tyr)
c.6955A>T (p.Asn2319Tyr)
c.6952A>T (p.Asn2318Tyr)
c.6937A>T (p.Asn2313Tyr)
c.6910A>T (p.Asn2304Tyr)
c.6895A>T (p.Asn2299Tyr)
c.6916A>T (p.Asn2306Tyr)
c.6892A>T (p.Asn2298Tyr)
9g.128632299A>CCA375098946SPTAN1c.6971A>C (p.Asn2324Thr)
c.6998A>C (p.Asn2333Thr)
c.7022A>C (p.Asn2341Thr)
c.6461A>C (p.Asn2154Thr)
c.4540A>C
c.2877A>C
c.6935A>C (p.Asn2312Thr)
n.659A>C
c.6860A>C (p.Asn2287Thr)
c.6920A>C (p.Asn2307Thr)
n.889A>C
n.692A>C
c.6875A>C (p.Asn2292Thr)
c.7034A>C (p.Asn2345Thr)
c.7019A>C (p.Asn2340Thr)
c.6974A>C (p.Asn2325Thr)
c.6956A>C (p.Asn2319Thr)
c.6953A>C (p.Asn2318Thr)
c.6938A>C (p.Asn2313Thr)
c.6911A>C (p.Asn2304Thr)
c.6896A>C (p.Asn2299Thr)
c.6917A>C (p.Asn2306Thr)
c.6893A>C (p.Asn2298Thr)
9g.128632299A>GCA375098944SPTAN1c.6971A>G (p.Asn2324Ser)
c.6998A>G (p.Asn2333Ser)
c.7022A>G (p.Asn2341Ser)
c.6461A>G (p.Asn2154Ser)
c.4540A>G
c.2877A>G
c.6935A>G (p.Asn2312Ser)
n.659A>G
c.6860A>G (p.Asn2287Ser)
c.6920A>G (p.Asn2307Ser)
n.889A>G
n.692A>G
c.6875A>G (p.Asn2292Ser)
c.7034A>G (p.Asn2345Ser)
c.7019A>G (p.Asn2340Ser)
c.6974A>G (p.Asn2325Ser)
c.6956A>G (p.Asn2319Ser)
c.6953A>G (p.Asn2318Ser)
c.6938A>G (p.Asn2313Ser)
c.6911A>G (p.Asn2304Ser)
c.6896A>G (p.Asn2299Ser)
c.6917A>G (p.Asn2306Ser)
c.6893A>G (p.Asn2298Ser)
9g.128632299A>TCA375098949SPTAN1c.6971A>T (p.Asn2324Ile)
c.6998A>T (p.Asn2333Ile)
c.7022A>T (p.Asn2341Ile)
c.6461A>T (p.Asn2154Ile)
c.4540A>T
c.2877A>T
c.6935A>T (p.Asn2312Ile)
n.659A>T
c.6860A>T (p.Asn2287Ile)
c.6920A>T (p.Asn2307Ile)
n.889A>T
n.692A>T
c.6875A>T (p.Asn2292Ile)
c.7034A>T (p.Asn2345Ile)
c.7019A>T (p.Asn2340Ile)
c.6974A>T (p.Asn2325Ile)
c.6956A>T (p.Asn2319Ile)
c.6953A>T (p.Asn2318Ile)
c.6938A>T (p.Asn2313Ile)
c.6911A>T (p.Asn2304Ile)
c.6896A>T (p.Asn2299Ile)
c.6917A>T (p.Asn2306Ile)
c.6893A>T (p.Asn2298Ile)
9g.128632300C>ACA375098957SPTAN1c.6972C>A (p.Asn2324Lys)
c.6999C>A (p.Asn2333Lys)
c.7023C>A (p.Asn2341Lys)
c.6462C>A (p.Asn2154Lys)
c.4541C>A
c.2878C>A
c.6936C>A (p.Asn2312Lys)
n.660C>A
c.6861C>A (p.Asn2287Lys)
c.6921C>A (p.Asn2307Lys)
n.890C>A
n.693C>A
c.6876C>A (p.Asn2292Lys)
c.7035C>A (p.Asn2345Lys)
c.7020C>A (p.Asn2340Lys)
c.6975C>A (p.Asn2325Lys)
c.6957C>A (p.Asn2319Lys)
c.6954C>A (p.Asn2318Lys)
c.6939C>A (p.Asn2313Lys)
c.6912C>A (p.Asn2304Lys)
c.6897C>A (p.Asn2299Lys)
c.6918C>A (p.Asn2306Lys)
c.6894C>A (p.Asn2298Lys)
9g.128632300C=CA1880371274SPTAN1c.6972C= (p.Asn2324=)
c.6999C= (p.Asn2333=)
c.7023C= (p.Asn2341=)
c.6462C= (p.Asn2154=)
c.4541C=
c.2878C=
c.6936C= (p.Asn2312=)
n.660C=
c.6861C= (p.Asn2287=)
c.6921C= (p.Asn2307=)
n.890C=
n.693C=
c.6876C= (p.Asn2292=)
c.7035C= (p.Asn2345=)
c.7020C= (p.Asn2340=)
c.6975C= (p.Asn2325=)
c.6957C= (p.Asn2319=)
c.6954C= (p.Asn2318=)
c.6939C= (p.Asn2313=)
c.6912C= (p.Asn2304=)
c.6897C= (p.Asn2299=)
c.6918C= (p.Asn2306=)
c.6894C= (p.Asn2298=)
9g.128632300C>GCA375098963SPTAN1c.6972C>G (p.Asn2324Lys)
c.6999C>G (p.Asn2333Lys)
c.7023C>G (p.Asn2341Lys)
c.6462C>G (p.Asn2154Lys)
c.4541C>G
c.2878C>G
c.6936C>G (p.Asn2312Lys)
n.660C>G
c.6861C>G (p.Asn2287Lys)
c.6921C>G (p.Asn2307Lys)
n.890C>G
n.693C>G
c.6876C>G (p.Asn2292Lys)
c.7035C>G (p.Asn2345Lys)
c.7020C>G (p.Asn2340Lys)
c.6975C>G (p.Asn2325Lys)
c.6957C>G (p.Asn2319Lys)
c.6954C>G (p.Asn2318Lys)
c.6939C>G (p.Asn2313Lys)
c.6912C>G (p.Asn2304Lys)
c.6897C>G (p.Asn2299Lys)
c.6918C>G (p.Asn2306Lys)
c.6894C>G (p.Asn2298Lys)
9g.128632300C>TCA200412537SPTAN1c.6972C>T (p.Asn2324=)
c.6999C>T (p.Asn2333=)
c.7023C>T (p.Asn2341=)
c.6462C>T (p.Asn2154=)
c.4541C>T
c.2878C>T
c.6936C>T (p.Asn2312=)
n.660C>T
c.6861C>T (p.Asn2287=)
c.6921C>T (p.Asn2307=)
n.890C>T
n.693C>T
c.6876C>T (p.Asn2292=)
c.7035C>T (p.Asn2345=)
c.7020C>T (p.Asn2340=)
c.6975C>T (p.Asn2325=)
c.6957C>T (p.Asn2319=)
c.6954C>T (p.Asn2318=)
c.6939C>T (p.Asn2313=)
c.6912C>T (p.Asn2304=)
c.6897C>T (p.Asn2299=)
c.6918C>T (p.Asn2306=)
c.6894C>T (p.Asn2298=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632301dupCA2580079755SPTAN1c.6973dup (p.Leu2325ProfsTer15)
c.7000dup (p.Leu2334ProfsTer15)
c.7024dup (p.Leu2342ProfsTer15)
c.6463dup (p.Leu2155ProfsTer15)
c.4542dup
c.2879dup
c.6937dup (p.Leu2313ProfsTer15)
n.661dup
c.6862dup (p.Leu2288ProfsTer15)
c.6922dup (p.Leu2308ProfsTer15)
n.891dup
n.694dup
c.6877dup (p.Leu2293ProfsTer15)
c.7036dup (p.Leu2346ProfsTer15)
c.7021dup (p.Leu2341ProfsTer15)
c.6976dup (p.Leu2326ProfsTer15)
c.6958dup (p.Leu2320ProfsTer15)
c.6955dup (p.Leu2319ProfsTer15)
c.6940dup (p.Leu2314ProfsTer15)
c.6913dup (p.Leu2305ProfsTer15)
c.6898dup (p.Leu2300ProfsTer15)
c.6919dup (p.Leu2307ProfsTer15)
c.6895dup (p.Leu2299ProfsTer15)
 ClinVar
9g.128632301C>ACA375098969SPTAN1c.6973C>A (p.Leu2325Met)
c.7000C>A (p.Leu2334Met)
c.7024C>A (p.Leu2342Met)
c.6463C>A (p.Leu2155Met)
c.4542C>A
c.2879C>A
c.6937C>A (p.Leu2313Met)
n.661C>A
c.6862C>A (p.Leu2288Met)
c.6922C>A (p.Leu2308Met)
n.891C>A
n.694C>A
c.6877C>A (p.Leu2293Met)
c.7036C>A (p.Leu2346Met)
c.7021C>A (p.Leu2341Met)
c.6976C>A (p.Leu2326Met)
c.6958C>A (p.Leu2320Met)
c.6955C>A (p.Leu2319Met)
c.6940C>A (p.Leu2314Met)
c.6913C>A (p.Leu2305Met)
c.6898C>A (p.Leu2300Met)
c.6919C>A (p.Leu2307Met)
c.6895C>A (p.Leu2299Met)
9g.128632301C>GCA375098970SPTAN1c.6973C>G (p.Leu2325Val)
c.7000C>G (p.Leu2334Val)
c.7024C>G (p.Leu2342Val)
c.6463C>G (p.Leu2155Val)
c.4542C>G
c.2879C>G
c.6937C>G (p.Leu2313Val)
n.661C>G
c.6862C>G (p.Leu2288Val)
c.6922C>G (p.Leu2308Val)
n.891C>G
n.694C>G
c.6877C>G (p.Leu2293Val)
c.7036C>G (p.Leu2346Val)
c.7021C>G (p.Leu2341Val)
c.6976C>G (p.Leu2326Val)
c.6958C>G (p.Leu2320Val)
c.6955C>G (p.Leu2319Val)
c.6940C>G (p.Leu2314Val)
c.6913C>G (p.Leu2305Val)
c.6898C>G (p.Leu2300Val)
c.6919C>G (p.Leu2307Val)
c.6895C>G (p.Leu2299Val)
9g.128632301C>TCA467304866SPTAN1c.6973C>T (p.Leu2325=)
c.7000C>T (p.Leu2334=)
c.7024C>T (p.Leu2342=)
c.6463C>T (p.Leu2155=)
c.4542C>T
c.2879C>T
c.6937C>T (p.Leu2313=)
n.661C>T
c.6862C>T (p.Leu2288=)
c.6922C>T (p.Leu2308=)
n.891C>T
n.694C>T
c.6877C>T (p.Leu2293=)
c.7036C>T (p.Leu2346=)
c.7021C>T (p.Leu2341=)
c.6976C>T (p.Leu2326=)
c.6958C>T (p.Leu2320=)
c.6955C>T (p.Leu2319=)
c.6940C>T (p.Leu2314=)
c.6913C>T (p.Leu2305=)
c.6898C>T (p.Leu2300=)
c.6919C>T (p.Leu2307=)
c.6895C>T (p.Leu2299=)
9g.128632302T>ACA375098971SPTAN1c.6974T>A (p.Leu2325Gln)
c.7001T>A (p.Leu2334Gln)
c.7025T>A (p.Leu2342Gln)
c.6464T>A (p.Leu2155Gln)
c.4543T>A
c.2880T>A
c.6938T>A (p.Leu2313Gln)
n.662T>A
c.6863T>A (p.Leu2288Gln)
c.6923T>A (p.Leu2308Gln)
n.892T>A
n.695T>A
c.6878T>A (p.Leu2293Gln)
c.7037T>A (p.Leu2346Gln)
c.7022T>A (p.Leu2341Gln)
c.6977T>A (p.Leu2326Gln)
c.6959T>A (p.Leu2320Gln)
c.6956T>A (p.Leu2319Gln)
c.6941T>A (p.Leu2314Gln)
c.6914T>A (p.Leu2305Gln)
c.6899T>A (p.Leu2300Gln)
c.6920T>A (p.Leu2307Gln)
c.6896T>A (p.Leu2299Gln)
9g.128632302T>CCA318784SPTAN1c.6974T>C (p.Leu2325Pro)
c.7001T>C (p.Leu2334Pro)
c.7025T>C (p.Leu2342Pro)
c.6464T>C (p.Leu2155Pro)
c.4543T>C
c.2880T>C
c.6938T>C (p.Leu2313Pro)
n.662T>C
c.6863T>C (p.Leu2288Pro)
c.6923T>C (p.Leu2308Pro)
n.892T>C
n.695T>C
c.6878T>C (p.Leu2293Pro)
c.7037T>C (p.Leu2346Pro)
c.7022T>C (p.Leu2341Pro)
c.6977T>C (p.Leu2326Pro)
c.6959T>C (p.Leu2320Pro)
c.6956T>C (p.Leu2319Pro)
c.6941T>C (p.Leu2314Pro)
c.6914T>C (p.Leu2305Pro)
c.6899T>C (p.Leu2300Pro)
c.6920T>C (p.Leu2307Pro)
c.6896T>C (p.Leu2299Pro)
 dbSNP
9g.128632302T>GCA375098975SPTAN1c.6974T>G (p.Leu2325Arg)
c.7001T>G (p.Leu2334Arg)
c.7025T>G (p.Leu2342Arg)
c.6464T>G (p.Leu2155Arg)
c.4543T>G
c.2880T>G
c.6938T>G (p.Leu2313Arg)
n.662T>G
c.6863T>G (p.Leu2288Arg)
c.6923T>G (p.Leu2308Arg)
n.892T>G
n.695T>G
c.6878T>G (p.Leu2293Arg)
c.7037T>G (p.Leu2346Arg)
c.7022T>G (p.Leu2341Arg)
c.6977T>G (p.Leu2326Arg)
c.6959T>G (p.Leu2320Arg)
c.6956T>G (p.Leu2319Arg)
c.6941T>G (p.Leu2314Arg)
c.6914T>G (p.Leu2305Arg)
c.6899T>G (p.Leu2300Arg)
c.6920T>G (p.Leu2307Arg)
c.6896T>G (p.Leu2299Arg)
9g.128632302T=CA1880371275SPTAN1c.6974T= (p.Leu2325=)
c.7001T= (p.Leu2334=)
c.7025T= (p.Leu2342=)
c.6464T= (p.Leu2155=)
c.4543T=
c.2880T=
c.6938T= (p.Leu2313=)
n.662T=
c.6863T= (p.Leu2288=)
c.6923T= (p.Leu2308=)
n.892T=
n.695T=
c.6878T= (p.Leu2293=)
c.7037T= (p.Leu2346=)
c.7022T= (p.Leu2341=)
c.6977T= (p.Leu2326=)
c.6959T= (p.Leu2320=)
c.6956T= (p.Leu2319=)
c.6941T= (p.Leu2314=)
c.6914T= (p.Leu2305=)
c.6899T= (p.Leu2300=)
c.6920T= (p.Leu2307=)
c.6896T= (p.Leu2299=)
9g.128632303G>ACA467304867SPTAN1c.6975G>A (p.Leu2325=)
c.7002G>A (p.Leu2334=)
c.7026G>A (p.Leu2342=)
c.6465G>A (p.Leu2155=)
c.4544G>A
c.2881G>A
c.6939G>A (p.Leu2313=)
n.663G>A
c.6864G>A (p.Leu2288=)
c.6924G>A (p.Leu2308=)
n.893G>A
n.696G>A
c.6879G>A (p.Leu2293=)
c.7038G>A (p.Leu2346=)
c.7023G>A (p.Leu2341=)
c.6978G>A (p.Leu2326=)
c.6960G>A (p.Leu2320=)
c.6957G>A (p.Leu2319=)
c.6942G>A (p.Leu2314=)
c.6915G>A (p.Leu2305=)
c.6900G>A (p.Leu2300=)
c.6921G>A (p.Leu2307=)
c.6897G>A (p.Leu2299=)
 gnomAD v4
9g.128632303G>CCA467304868SPTAN1c.6975G>C (p.Leu2325=)
c.7002G>C (p.Leu2334=)
c.7026G>C (p.Leu2342=)
c.6465G>C (p.Leu2155=)
c.4544G>C
c.2881G>C
c.6939G>C (p.Leu2313=)
n.663G>C
c.6864G>C (p.Leu2288=)
c.6924G>C (p.Leu2308=)
n.893G>C
n.696G>C
c.6879G>C (p.Leu2293=)
c.7038G>C (p.Leu2346=)
c.7023G>C (p.Leu2341=)
c.6978G>C (p.Leu2326=)
c.6960G>C (p.Leu2320=)
c.6957G>C (p.Leu2319=)
c.6942G>C (p.Leu2314=)
c.6915G>C (p.Leu2305=)
c.6900G>C (p.Leu2300=)
c.6921G>C (p.Leu2307=)
c.6897G>C (p.Leu2299=)
9g.128632303G>TCA467304869SPTAN1c.6975G>T (p.Leu2325=)
c.7002G>T (p.Leu2334=)
c.7026G>T (p.Leu2342=)
c.6465G>T (p.Leu2155=)
c.4544G>T
c.2881G>T
c.6939G>T (p.Leu2313=)
n.663G>T
c.6864G>T (p.Leu2288=)
c.6924G>T (p.Leu2308=)
n.893G>T
n.696G>T
c.6879G>T (p.Leu2293=)
c.7038G>T (p.Leu2346=)
c.7023G>T (p.Leu2341=)
c.6978G>T (p.Leu2326=)
c.6960G>T (p.Leu2320=)
c.6957G>T (p.Leu2319=)
c.6942G>T (p.Leu2314=)
c.6915G>T (p.Leu2305=)
c.6900G>T (p.Leu2300=)
c.6921G>T (p.Leu2307=)
c.6897G>T (p.Leu2299=)
9g.128632304G>ACA375098977SPTAN1c.6976G>A (p.Glu2326Lys)
c.7003G>A (p.Glu2335Lys)
c.7027G>A (p.Glu2343Lys)
c.6466G>A (p.Glu2156Lys)
c.4545G>A
c.2882G>A
c.6940G>A (p.Glu2314Lys)
n.664G>A
c.6865G>A (p.Glu2289Lys)
c.6925G>A (p.Glu2309Lys)
n.894G>A
n.697G>A
c.6880G>A (p.Glu2294Lys)
c.7039G>A (p.Glu2347Lys)
c.7024G>A (p.Glu2342Lys)
c.6979G>A (p.Glu2327Lys)
c.6961G>A (p.Glu2321Lys)
c.6958G>A (p.Glu2320Lys)
c.6943G>A (p.Glu2315Lys)
c.6916G>A (p.Glu2306Lys)
c.6901G>A (p.Glu2301Lys)
c.6922G>A (p.Glu2308Lys)
c.6898G>A (p.Glu2300Lys)
9g.128632304G>CCA375098980SPTAN1c.6976G>C (p.Glu2326Gln)
c.7003G>C (p.Glu2335Gln)
c.7027G>C (p.Glu2343Gln)
c.6466G>C (p.Glu2156Gln)
c.4545G>C
c.2882G>C
c.6940G>C (p.Glu2314Gln)
n.664G>C
c.6865G>C (p.Glu2289Gln)
c.6925G>C (p.Glu2309Gln)
n.894G>C
n.697G>C
c.6880G>C (p.Glu2294Gln)
c.7039G>C (p.Glu2347Gln)
c.7024G>C (p.Glu2342Gln)
c.6979G>C (p.Glu2327Gln)
c.6961G>C (p.Glu2321Gln)
c.6958G>C (p.Glu2320Gln)
c.6943G>C (p.Glu2315Gln)
c.6916G>C (p.Glu2306Gln)
c.6901G>C (p.Glu2301Gln)
c.6922G>C (p.Glu2308Gln)
c.6898G>C (p.Glu2300Gln)
9g.128632304G>TCA375098985SPTAN1c.6976G>T (p.Glu2326Ter)
c.7003G>T (p.Glu2335Ter)
c.7027G>T (p.Glu2343Ter)
c.6466G>T (p.Glu2156Ter)
c.4545G>T
c.2882G>T
c.6940G>T (p.Glu2314Ter)
n.664G>T
c.6865G>T (p.Glu2289Ter)
c.6925G>T (p.Glu2309Ter)
n.894G>T
n.697G>T
c.6880G>T (p.Glu2294Ter)
c.7039G>T (p.Glu2347Ter)
c.7024G>T (p.Glu2342Ter)
c.6979G>T (p.Glu2327Ter)
c.6961G>T (p.Glu2321Ter)
c.6958G>T (p.Glu2320Ter)
c.6943G>T (p.Glu2315Ter)
c.6916G>T (p.Glu2306Ter)
c.6901G>T (p.Glu2301Ter)
c.6922G>T (p.Glu2308Ter)
c.6898G>T (p.Glu2300Ter)
9g.128632305A>CCA375098990SPTAN1c.6977A>C (p.Glu2326Ala)
c.7004A>C (p.Glu2335Ala)
c.7028A>C (p.Glu2343Ala)
c.6467A>C (p.Glu2156Ala)
c.4546A>C
c.2883A>C
c.6941A>C (p.Glu2314Ala)
n.665A>C
c.6866A>C (p.Glu2289Ala)
c.6926A>C (p.Glu2309Ala)
n.895A>C
n.698A>C
c.6881A>C (p.Glu2294Ala)
c.7040A>C (p.Glu2347Ala)
c.7025A>C (p.Glu2342Ala)
c.6980A>C (p.Glu2327Ala)
c.6962A>C (p.Glu2321Ala)
c.6959A>C (p.Glu2320Ala)
c.6944A>C (p.Glu2315Ala)
c.6917A>C (p.Glu2306Ala)
c.6902A>C (p.Glu2301Ala)
c.6923A>C (p.Glu2308Ala)
c.6899A>C (p.Glu2300Ala)
9g.128632305A>GCA375098998SPTAN1c.6977A>G (p.Glu2326Gly)
c.7004A>G (p.Glu2335Gly)
c.7028A>G (p.Glu2343Gly)
c.6467A>G (p.Glu2156Gly)
c.4546A>G
c.2883A>G
c.6941A>G (p.Glu2314Gly)
n.665A>G
c.6866A>G (p.Glu2289Gly)
c.6926A>G (p.Glu2309Gly)
n.895A>G
n.698A>G
c.6881A>G (p.Glu2294Gly)
c.7040A>G (p.Glu2347Gly)
c.7025A>G (p.Glu2342Gly)
c.6980A>G (p.Glu2327Gly)
c.6962A>G (p.Glu2321Gly)
c.6959A>G (p.Glu2320Gly)
c.6944A>G (p.Glu2315Gly)
c.6917A>G (p.Glu2306Gly)
c.6902A>G (p.Glu2301Gly)
c.6923A>G (p.Glu2308Gly)
c.6899A>G (p.Glu2300Gly)
9g.128632305A>TCA375099014SPTAN1c.6977A>T (p.Glu2326Val)
c.7004A>T (p.Glu2335Val)
c.7028A>T (p.Glu2343Val)
c.6467A>T (p.Glu2156Val)
c.4546A>T
c.2883A>T
c.6941A>T (p.Glu2314Val)
n.665A>T
c.6866A>T (p.Glu2289Val)
c.6926A>T (p.Glu2309Val)
n.895A>T
n.698A>T
c.6881A>T (p.Glu2294Val)
c.7040A>T (p.Glu2347Val)
c.7025A>T (p.Glu2342Val)
c.6980A>T (p.Glu2327Val)
c.6962A>T (p.Glu2321Val)
c.6959A>T (p.Glu2320Val)
c.6944A>T (p.Glu2315Val)
c.6917A>T (p.Glu2306Val)
c.6902A>T (p.Glu2301Val)
c.6923A>T (p.Glu2308Val)
c.6899A>T (p.Glu2300Val)
9g.128632306G>ACA467484992SPTAN1c.6978G>A (p.Glu2326=)
c.7005G>A (p.Glu2335=)
c.7029G>A (p.Glu2343=)
c.6468G>A (p.Glu2156=)
c.4547G>A
c.2884G>A
c.6942G>A (p.Glu2314=)
n.666G>A
c.6867G>A (p.Glu2289=)
c.6927G>A (p.Glu2309=)
n.896G>A
n.699G>A
c.6882G>A (p.Glu2294=)
c.7041G>A (p.Glu2347=)
c.7026G>A (p.Glu2342=)
c.6981G>A (p.Glu2327=)
c.6963G>A (p.Glu2321=)
c.6960G>A (p.Glu2320=)
c.6945G>A (p.Glu2315=)
c.6918G>A (p.Glu2306=)
c.6903G>A (p.Glu2301=)
c.6924G>A (p.Glu2308=)
c.6900G>A (p.Glu2300=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632306G>CCA375099018SPTAN1c.6978G>C (p.Glu2326Asp)
c.7005G>C (p.Glu2335Asp)
c.7029G>C (p.Glu2343Asp)
c.6468G>C (p.Glu2156Asp)
c.4547G>C
c.2884G>C
c.6942G>C (p.Glu2314Asp)
n.666G>C
c.6867G>C (p.Glu2289Asp)
c.6927G>C (p.Glu2309Asp)
n.896G>C
n.699G>C
c.6882G>C (p.Glu2294Asp)
c.7041G>C (p.Glu2347Asp)
c.7026G>C (p.Glu2342Asp)
c.6981G>C (p.Glu2327Asp)
c.6963G>C (p.Glu2321Asp)
c.6960G>C (p.Glu2320Asp)
c.6945G>C (p.Glu2315Asp)
c.6918G>C (p.Glu2306Asp)
c.6903G>C (p.Glu2301Asp)
c.6924G>C (p.Glu2308Asp)
c.6900G>C (p.Glu2300Asp)
9g.128632306G=CA1880371276SPTAN1c.6978G= (p.Glu2326=)
c.7005G= (p.Glu2335=)
c.7029G= (p.Glu2343=)
c.6468G= (p.Glu2156=)
c.4547G=
c.2884G=
c.6942G= (p.Glu2314=)
n.666G=
c.6867G= (p.Glu2289=)
c.6927G= (p.Glu2309=)
n.896G=
n.699G=
c.6882G= (p.Glu2294=)
c.7041G= (p.Glu2347=)
c.7026G= (p.Glu2342=)
c.6981G= (p.Glu2327=)
c.6963G= (p.Glu2321=)
c.6960G= (p.Glu2320=)
c.6945G= (p.Glu2315=)
c.6918G= (p.Glu2306=)
c.6903G= (p.Glu2301=)
c.6924G= (p.Glu2308=)
c.6900G= (p.Glu2300=)
9g.128632306G>TCA375099019SPTAN1c.6978G>T (p.Glu2326Asp)
c.7005G>T (p.Glu2335Asp)
c.7029G>T (p.Glu2343Asp)
c.6468G>T (p.Glu2156Asp)
c.4547G>T
c.2884G>T
c.6942G>T (p.Glu2314Asp)
n.666G>T
c.6867G>T (p.Glu2289Asp)
c.6927G>T (p.Glu2309Asp)
n.896G>T
n.699G>T
c.6882G>T (p.Glu2294Asp)
c.7041G>T (p.Glu2347Asp)
c.7026G>T (p.Glu2342Asp)
c.6981G>T (p.Glu2327Asp)
c.6963G>T (p.Glu2321Asp)
c.6960G>T (p.Glu2320Asp)
c.6945G>T (p.Glu2315Asp)
c.6918G>T (p.Glu2306Asp)
c.6903G>T (p.Glu2301Asp)
c.6924G>T (p.Glu2308Asp)
c.6900G>T (p.Glu2300Asp)
 COSMIC COSMIC
9g.128632307C>ACA375099023SPTAN1c.6979C>A (p.Gln2327Lys)
c.7006C>A (p.Gln2336Lys)
c.7030C>A (p.Gln2344Lys)
c.6469C>A (p.Gln2157Lys)
c.4548C>A
c.2885C>A
c.6943C>A (p.Gln2315Lys)
n.667C>A
c.6868C>A (p.Gln2290Lys)
c.6928C>A (p.Gln2310Lys)
n.897C>A
n.700C>A
c.6883C>A (p.Gln2295Lys)
c.7042C>A (p.Gln2348Lys)
c.7027C>A (p.Gln2343Lys)
c.6982C>A (p.Gln2328Lys)
c.6964C>A (p.Gln2322Lys)
c.6961C>A (p.Gln2321Lys)
c.6946C>A (p.Gln2316Lys)
c.6919C>A (p.Gln2307Lys)
c.6904C>A (p.Gln2302Lys)
c.6925C>A (p.Gln2309Lys)
c.6901C>A (p.Gln2301Lys)
9g.128632307C=CA1880371277SPTAN1c.6979C= (p.Gln2327=)
c.7006C= (p.Gln2336=)
c.7030C= (p.Gln2344=)
c.6469C= (p.Gln2157=)
c.4548C=
c.2885C=
c.6943C= (p.Gln2315=)
n.667C=
c.6868C= (p.Gln2290=)
c.6928C= (p.Gln2310=)
n.897C=
n.700C=
c.6883C= (p.Gln2295=)
c.7042C= (p.Gln2348=)
c.7027C= (p.Gln2343=)
c.6982C= (p.Gln2328=)
c.6964C= (p.Gln2322=)
c.6961C= (p.Gln2321=)
c.6946C= (p.Gln2316=)
c.6919C= (p.Gln2307=)
c.6904C= (p.Gln2302=)
c.6925C= (p.Gln2309=)
c.6901C= (p.Gln2301=)
9g.128632307C>GCA375099039SPTAN1c.6979C>G (p.Gln2327Glu)
c.7006C>G (p.Gln2336Glu)
c.7030C>G (p.Gln2344Glu)
c.6469C>G (p.Gln2157Glu)
c.4548C>G
c.2885C>G
c.6943C>G (p.Gln2315Glu)
n.667C>G
c.6868C>G (p.Gln2290Glu)
c.6928C>G (p.Gln2310Glu)
n.897C>G
n.700C>G
c.6883C>G (p.Gln2295Glu)
c.7042C>G (p.Gln2348Glu)
c.7027C>G (p.Gln2343Glu)
c.6982C>G (p.Gln2328Glu)
c.6964C>G (p.Gln2322Glu)
c.6961C>G (p.Gln2321Glu)
c.6946C>G (p.Gln2316Glu)
c.6919C>G (p.Gln2307Glu)
c.6904C>G (p.Gln2302Glu)
c.6925C>G (p.Gln2309Glu)
c.6901C>G (p.Gln2301Glu)
 ClinVar dbSNP
9g.128632307C>TCA375099038SPTAN1c.6979C>T (p.Gln2327Ter)
c.7006C>T (p.Gln2336Ter)
c.7030C>T (p.Gln2344Ter)
c.6469C>T (p.Gln2157Ter)
c.4548C>T
c.2885C>T
c.6943C>T (p.Gln2315Ter)
n.667C>T
c.6868C>T (p.Gln2290Ter)
c.6928C>T (p.Gln2310Ter)
n.897C>T
n.700C>T
c.6883C>T (p.Gln2295Ter)
c.7042C>T (p.Gln2348Ter)
c.7027C>T (p.Gln2343Ter)
c.6982C>T (p.Gln2328Ter)
c.6964C>T (p.Gln2322Ter)
c.6961C>T (p.Gln2321Ter)
c.6946C>T (p.Gln2316Ter)
c.6919C>T (p.Gln2307Ter)
c.6904C>T (p.Gln2302Ter)
c.6925C>T (p.Gln2309Ter)
c.6901C>T (p.Gln2301Ter)
9g.128632308A>CCA375099047SPTAN1c.6980A>C (p.Gln2327Pro)
c.7007A>C (p.Gln2336Pro)
c.7031A>C (p.Gln2344Pro)
c.6470A>C (p.Gln2157Pro)
c.4549A>C
c.2886A>C
c.6944A>C (p.Gln2315Pro)
n.668A>C
c.6869A>C (p.Gln2290Pro)
c.6929A>C (p.Gln2310Pro)
n.898A>C
n.701A>C
c.6884A>C (p.Gln2295Pro)
c.7043A>C (p.Gln2348Pro)
c.7028A>C (p.Gln2343Pro)
c.6983A>C (p.Gln2328Pro)
c.6965A>C (p.Gln2322Pro)
c.6962A>C (p.Gln2321Pro)
c.6947A>C (p.Gln2316Pro)
c.6920A>C (p.Gln2307Pro)
c.6905A>C (p.Gln2302Pro)
c.6926A>C (p.Gln2309Pro)
c.6902A>C (p.Gln2301Pro)
9g.128632308A>GCA375099053SPTAN1c.6980A>G (p.Gln2327Arg)
c.7007A>G (p.Gln2336Arg)
c.7031A>G (p.Gln2344Arg)
c.6470A>G (p.Gln2157Arg)
c.4549A>G
c.2886A>G
c.6944A>G (p.Gln2315Arg)
n.668A>G
c.6869A>G (p.Gln2290Arg)
c.6929A>G (p.Gln2310Arg)
n.898A>G
n.701A>G
c.6884A>G (p.Gln2295Arg)
c.7043A>G (p.Gln2348Arg)
c.7028A>G (p.Gln2343Arg)
c.6983A>G (p.Gln2328Arg)
c.6965A>G (p.Gln2322Arg)
c.6962A>G (p.Gln2321Arg)
c.6947A>G (p.Gln2316Arg)
c.6920A>G (p.Gln2307Arg)
c.6905A>G (p.Gln2302Arg)
c.6926A>G (p.Gln2309Arg)
c.6902A>G (p.Gln2301Arg)
9g.128632308A>TCA375099054SPTAN1c.6980A>T (p.Gln2327Leu)
c.7007A>T (p.Gln2336Leu)
c.7031A>T (p.Gln2344Leu)
c.6470A>T (p.Gln2157Leu)
c.4549A>T
c.2886A>T
c.6944A>T (p.Gln2315Leu)
n.668A>T
c.6869A>T (p.Gln2290Leu)
c.6929A>T (p.Gln2310Leu)
n.898A>T
n.701A>T
c.6884A>T (p.Gln2295Leu)
c.7043A>T (p.Gln2348Leu)
c.7028A>T (p.Gln2343Leu)
c.6983A>T (p.Gln2328Leu)
c.6965A>T (p.Gln2322Leu)
c.6962A>T (p.Gln2321Leu)
c.6947A>T (p.Gln2316Leu)
c.6920A>T (p.Gln2307Leu)
c.6905A>T (p.Gln2302Leu)
c.6926A>T (p.Gln2309Leu)
c.6902A>T (p.Gln2301Leu)
9g.128632309G>ACA467484996SPTAN1c.6981G>A (p.Gln2327=)
c.7008G>A (p.Gln2336=)
c.7032G>A (p.Gln2344=)
c.6471G>A (p.Gln2157=)
c.4550G>A
c.2887G>A
c.6945G>A (p.Gln2315=)
n.669G>A
c.6870G>A (p.Gln2290=)
c.6930G>A (p.Gln2310=)
n.899G>A
n.702G>A
c.6885G>A (p.Gln2295=)
c.7044G>A (p.Gln2348=)
c.7029G>A (p.Gln2343=)
c.6984G>A (p.Gln2328=)
c.6966G>A (p.Gln2322=)
c.6963G>A (p.Gln2321=)
c.6948G>A (p.Gln2316=)
c.6921G>A (p.Gln2307=)
c.6906G>A (p.Gln2302=)
c.6927G>A (p.Gln2309=)
c.6903G>A (p.Gln2301=)
9g.128632309G>CCA375099055SPTAN1c.6981G>C (p.Gln2327His)
c.7008G>C (p.Gln2336His)
c.7032G>C (p.Gln2344His)
c.6471G>C (p.Gln2157His)
c.4550G>C
c.2887G>C
c.6945G>C (p.Gln2315His)
n.669G>C
c.6870G>C (p.Gln2290His)
c.6930G>C (p.Gln2310His)
n.899G>C
n.702G>C
c.6885G>C (p.Gln2295His)
c.7044G>C (p.Gln2348His)
c.7029G>C (p.Gln2343His)
c.6984G>C (p.Gln2328His)
c.6966G>C (p.Gln2322His)
c.6963G>C (p.Gln2321His)
c.6948G>C (p.Gln2316His)
c.6921G>C (p.Gln2307His)
c.6906G>C (p.Gln2302His)
c.6927G>C (p.Gln2309His)
c.6903G>C (p.Gln2301His)
9g.128632309G>TCA375099058SPTAN1c.6981G>T (p.Gln2327His)
c.7008G>T (p.Gln2336His)
c.7032G>T (p.Gln2344His)
c.6471G>T (p.Gln2157His)
c.4550G>T
c.2887G>T
c.6945G>T (p.Gln2315His)
n.669G>T
c.6870G>T (p.Gln2290His)
c.6930G>T (p.Gln2310His)
n.899G>T
n.702G>T
c.6885G>T (p.Gln2295His)
c.7044G>T (p.Gln2348His)
c.7029G>T (p.Gln2343His)
c.6984G>T (p.Gln2328His)
c.6966G>T (p.Gln2322His)
c.6963G>T (p.Gln2321His)
c.6948G>T (p.Gln2316His)
c.6921G>T (p.Gln2307His)
c.6906G>T (p.Gln2302His)
c.6927G>T (p.Gln2309His)
c.6903G>T (p.Gln2301His)
9g.128632310C>ACA375099066SPTAN1c.6982C>A (p.Gln2328Lys)
c.7009C>A (p.Gln2337Lys)
c.7033C>A (p.Gln2345Lys)
c.6472C>A (p.Gln2158Lys)
c.4551C>A
c.2888C>A
c.6946C>A (p.Gln2316Lys)
n.670C>A
c.6871C>A (p.Gln2291Lys)
c.6931C>A (p.Gln2311Lys)
n.900C>A
n.703C>A
c.6886C>A (p.Gln2296Lys)
c.7045C>A (p.Gln2349Lys)
c.7030C>A (p.Gln2344Lys)
c.6985C>A (p.Gln2329Lys)
c.6967C>A (p.Gln2323Lys)
c.6964C>A (p.Gln2322Lys)
c.6949C>A (p.Gln2317Lys)
c.6922C>A (p.Gln2308Lys)
c.6907C>A (p.Gln2303Lys)
c.6928C>A (p.Gln2310Lys)
c.6904C>A (p.Gln2302Lys)
9g.128632310C>GCA375099088SPTAN1c.6982C>G (p.Gln2328Glu)
c.7009C>G (p.Gln2337Glu)
c.7033C>G (p.Gln2345Glu)
c.6472C>G (p.Gln2158Glu)
c.4551C>G
c.2888C>G
c.6946C>G (p.Gln2316Glu)
n.670C>G
c.6871C>G (p.Gln2291Glu)
c.6931C>G (p.Gln2311Glu)
n.900C>G
n.703C>G
c.6886C>G (p.Gln2296Glu)
c.7045C>G (p.Gln2349Glu)
c.7030C>G (p.Gln2344Glu)
c.6985C>G (p.Gln2329Glu)
c.6967C>G (p.Gln2323Glu)
c.6964C>G (p.Gln2322Glu)
c.6949C>G (p.Gln2317Glu)
c.6922C>G (p.Gln2308Glu)
c.6907C>G (p.Gln2303Glu)
c.6928C>G (p.Gln2310Glu)
c.6904C>G (p.Gln2302Glu)
9g.128632310C>TCA375099094SPTAN1c.6982C>T (p.Gln2328Ter)
c.7009C>T (p.Gln2337Ter)
c.7033C>T (p.Gln2345Ter)
c.6472C>T (p.Gln2158Ter)
c.4551C>T
c.2888C>T
c.6946C>T (p.Gln2316Ter)
n.670C>T
c.6871C>T (p.Gln2291Ter)
c.6931C>T (p.Gln2311Ter)
n.900C>T
n.703C>T
c.6886C>T (p.Gln2296Ter)
c.7045C>T (p.Gln2349Ter)
c.7030C>T (p.Gln2344Ter)
c.6985C>T (p.Gln2329Ter)
c.6967C>T (p.Gln2323Ter)
c.6964C>T (p.Gln2322Ter)
c.6949C>T (p.Gln2317Ter)
c.6922C>T (p.Gln2308Ter)
c.6907C>T (p.Gln2303Ter)
c.6928C>T (p.Gln2310Ter)
c.6904C>T (p.Gln2302Ter)
 gnomAD v4
9g.128632311A>CCA375099095SPTAN1c.6983A>C (p.Gln2328Pro)
c.7010A>C (p.Gln2337Pro)
c.7034A>C (p.Gln2345Pro)
c.6473A>C (p.Gln2158Pro)
c.4552A>C
c.2889A>C
c.6947A>C (p.Gln2316Pro)
n.671A>C
c.6872A>C (p.Gln2291Pro)
c.6932A>C (p.Gln2311Pro)
n.901A>C
n.704A>C
c.6887A>C (p.Gln2296Pro)
c.7046A>C (p.Gln2349Pro)
c.7031A>C (p.Gln2344Pro)
c.6986A>C (p.Gln2329Pro)
c.6968A>C (p.Gln2323Pro)
c.6965A>C (p.Gln2322Pro)
c.6950A>C (p.Gln2317Pro)
c.6923A>C (p.Gln2308Pro)
c.6908A>C (p.Gln2303Pro)
c.6929A>C (p.Gln2310Pro)
c.6905A>C (p.Gln2302Pro)
9g.128632311A>GCA375099103SPTAN1c.6983A>G (p.Gln2328Arg)
c.7010A>G (p.Gln2337Arg)
c.7034A>G (p.Gln2345Arg)
c.6473A>G (p.Gln2158Arg)
c.4552A>G
c.2889A>G
c.6947A>G (p.Gln2316Arg)
n.671A>G
c.6872A>G (p.Gln2291Arg)
c.6932A>G (p.Gln2311Arg)
n.901A>G
n.704A>G
c.6887A>G (p.Gln2296Arg)
c.7046A>G (p.Gln2349Arg)
c.7031A>G (p.Gln2344Arg)
c.6986A>G (p.Gln2329Arg)
c.6968A>G (p.Gln2323Arg)
c.6965A>G (p.Gln2322Arg)
c.6950A>G (p.Gln2317Arg)
c.6923A>G (p.Gln2308Arg)
c.6908A>G (p.Gln2303Arg)
c.6929A>G (p.Gln2310Arg)
c.6905A>G (p.Gln2302Arg)
9g.128632311A>TCA375099106SPTAN1c.6983A>T (p.Gln2328Leu)
c.7010A>T (p.Gln2337Leu)
c.7034A>T (p.Gln2345Leu)
c.6473A>T (p.Gln2158Leu)
c.4552A>T
c.2889A>T
c.6947A>T (p.Gln2316Leu)
n.671A>T
c.6872A>T (p.Gln2291Leu)
c.6932A>T (p.Gln2311Leu)
n.901A>T
n.704A>T
c.6887A>T (p.Gln2296Leu)
c.7046A>T (p.Gln2349Leu)
c.7031A>T (p.Gln2344Leu)
c.6986A>T (p.Gln2329Leu)
c.6968A>T (p.Gln2323Leu)
c.6965A>T (p.Gln2322Leu)
c.6950A>T (p.Gln2317Leu)
c.6923A>T (p.Gln2308Leu)
c.6908A>T (p.Gln2303Leu)
c.6929A>T (p.Gln2310Leu)
c.6905A>T (p.Gln2302Leu)
9g.128632312G>ACA467484997SPTAN1c.6984G>A (p.Gln2328=)
c.7011G>A (p.Gln2337=)
c.7035G>A (p.Gln2345=)
c.6474G>A (p.Gln2158=)
c.4553G>A
c.2890G>A
c.6948G>A (p.Gln2316=)
n.672G>A
c.6873G>A (p.Gln2291=)
c.6933G>A (p.Gln2311=)
n.902G>A
n.705G>A
c.6888G>A (p.Gln2296=)
c.7047G>A (p.Gln2349=)
c.7032G>A (p.Gln2344=)
c.6987G>A (p.Gln2329=)
c.6969G>A (p.Gln2323=)
c.6966G>A (p.Gln2322=)
c.6951G>A (p.Gln2317=)
c.6924G>A (p.Gln2308=)
c.6909G>A (p.Gln2303=)
c.6930G>A (p.Gln2310=)
c.6906G>A (p.Gln2302=)
 ClinVar dbSNP gnomAD v4
9g.128632312G>CCA375099127SPTAN1c.6984G>C (p.Gln2328His)
c.7011G>C (p.Gln2337His)
c.7035G>C (p.Gln2345His)
c.6474G>C (p.Gln2158His)
c.4553G>C
c.2890G>C
c.6948G>C (p.Gln2316His)
n.672G>C
c.6873G>C (p.Gln2291His)
c.6933G>C (p.Gln2311His)
n.902G>C
n.705G>C
c.6888G>C (p.Gln2296His)
c.7047G>C (p.Gln2349His)
c.7032G>C (p.Gln2344His)
c.6987G>C (p.Gln2329His)
c.6969G>C (p.Gln2323His)
c.6966G>C (p.Gln2322His)
c.6951G>C (p.Gln2317His)
c.6924G>C (p.Gln2308His)
c.6909G>C (p.Gln2303His)
c.6930G>C (p.Gln2310His)
c.6906G>C (p.Gln2302His)
9g.128632312G=CA1880371278SPTAN1c.6984G= (p.Gln2328=)
c.7011G= (p.Gln2337=)
c.7035G= (p.Gln2345=)
c.6474G= (p.Gln2158=)
c.4553G=
c.2890G=
c.6948G= (p.Gln2316=)
n.672G=
c.6873G= (p.Gln2291=)
c.6933G= (p.Gln2311=)
n.902G=
n.705G=
c.6888G= (p.Gln2296=)
c.7047G= (p.Gln2349=)
c.7032G= (p.Gln2344=)
c.6987G= (p.Gln2329=)
c.6969G= (p.Gln2323=)
c.6966G= (p.Gln2322=)
c.6951G= (p.Gln2317=)
c.6924G= (p.Gln2308=)
c.6909G= (p.Gln2303=)
c.6930G= (p.Gln2310=)
c.6906G= (p.Gln2302=)
9g.128632312G>TCA375099130SPTAN1c.6984G>T (p.Gln2328His)
c.7011G>T (p.Gln2337His)
c.7035G>T (p.Gln2345His)
c.6474G>T (p.Gln2158His)
c.4553G>T
c.2890G>T
c.6948G>T (p.Gln2316His)
n.672G>T
c.6873G>T (p.Gln2291His)
c.6933G>T (p.Gln2311His)
n.902G>T
n.705G>T
c.6888G>T (p.Gln2296His)
c.7047G>T (p.Gln2349His)
c.7032G>T (p.Gln2344His)
c.6987G>T (p.Gln2329His)
c.6969G>T (p.Gln2323His)
c.6966G>T (p.Gln2322His)
c.6951G>T (p.Gln2317His)
c.6924G>T (p.Gln2308His)
c.6909G>T (p.Gln2303His)
c.6930G>T (p.Gln2310His)
c.6906G>T (p.Gln2302His)
9g.128632313A>CCA375099140SPTAN1c.6985A>C (p.Ile2329Leu)
c.7012A>C (p.Ile2338Leu)
c.7036A>C (p.Ile2346Leu)
c.6475A>C (p.Ile2159Leu)
c.4554A>C
c.2891A>C
c.6949A>C (p.Ile2317Leu)
n.673A>C
c.6874A>C (p.Ile2292Leu)
c.6934A>C (p.Ile2312Leu)
n.903A>C
n.706A>C
c.6889A>C (p.Ile2297Leu)
c.7048A>C (p.Ile2350Leu)
c.7033A>C (p.Ile2345Leu)
c.6988A>C (p.Ile2330Leu)
c.6970A>C (p.Ile2324Leu)
c.6967A>C (p.Ile2323Leu)
c.6952A>C (p.Ile2318Leu)
c.6925A>C (p.Ile2309Leu)
c.6910A>C (p.Ile2304Leu)
c.6931A>C (p.Ile2311Leu)
c.6907A>C (p.Ile2303Leu)
9g.128632313A>GCA375099142SPTAN1c.6985A>G (p.Ile2329Val)
c.7012A>G (p.Ile2338Val)
c.7036A>G (p.Ile2346Val)
c.6475A>G (p.Ile2159Val)
c.4554A>G
c.2891A>G
c.6949A>G (p.Ile2317Val)
n.673A>G
c.6874A>G (p.Ile2292Val)
c.6934A>G (p.Ile2312Val)
n.903A>G
n.706A>G
c.6889A>G (p.Ile2297Val)
c.7048A>G (p.Ile2350Val)
c.7033A>G (p.Ile2345Val)
c.6988A>G (p.Ile2330Val)
c.6970A>G (p.Ile2324Val)
c.6967A>G (p.Ile2323Val)
c.6952A>G (p.Ile2318Val)
c.6925A>G (p.Ile2309Val)
c.6910A>G (p.Ile2304Val)
c.6931A>G (p.Ile2311Val)
c.6907A>G (p.Ile2303Val)
9g.128632313A>TCA375099143SPTAN1c.6985A>T (p.Ile2329Phe)
c.7012A>T (p.Ile2338Phe)
c.7036A>T (p.Ile2346Phe)
c.6475A>T (p.Ile2159Phe)
c.4554A>T
c.2891A>T
c.6949A>T (p.Ile2317Phe)
n.673A>T
c.6874A>T (p.Ile2292Phe)
c.6934A>T (p.Ile2312Phe)
n.903A>T
n.706A>T
c.6889A>T (p.Ile2297Phe)
c.7048A>T (p.Ile2350Phe)
c.7033A>T (p.Ile2345Phe)
c.6988A>T (p.Ile2330Phe)
c.6970A>T (p.Ile2324Phe)
c.6967A>T (p.Ile2323Phe)
c.6952A>T (p.Ile2318Phe)
c.6925A>T (p.Ile2309Phe)
c.6910A>T (p.Ile2304Phe)
c.6931A>T (p.Ile2311Phe)
c.6907A>T (p.Ile2303Phe)
9g.128632314T>ACA375099146SPTAN1c.6986T>A (p.Ile2329Asn)
c.7013T>A (p.Ile2338Asn)
c.7037T>A (p.Ile2346Asn)
c.6476T>A (p.Ile2159Asn)
c.4555T>A
c.2892T>A
c.6950T>A (p.Ile2317Asn)
n.674T>A
c.6875T>A (p.Ile2292Asn)
c.6935T>A (p.Ile2312Asn)
n.904T>A
n.707T>A
c.6890T>A (p.Ile2297Asn)
c.7049T>A (p.Ile2350Asn)
c.7034T>A (p.Ile2345Asn)
c.6989T>A (p.Ile2330Asn)
c.6971T>A (p.Ile2324Asn)
c.6968T>A (p.Ile2323Asn)
c.6953T>A (p.Ile2318Asn)
c.6926T>A (p.Ile2309Asn)
c.6911T>A (p.Ile2304Asn)
c.6932T>A (p.Ile2311Asn)
c.6908T>A (p.Ile2303Asn)
9g.128632314T>CCA375099150SPTAN1c.6986T>C (p.Ile2329Thr)
c.7013T>C (p.Ile2338Thr)
c.7037T>C (p.Ile2346Thr)
c.6476T>C (p.Ile2159Thr)
c.4555T>C
c.2892T>C
c.6950T>C (p.Ile2317Thr)
n.674T>C
c.6875T>C (p.Ile2292Thr)
c.6935T>C (p.Ile2312Thr)
n.904T>C
n.707T>C
c.6890T>C (p.Ile2297Thr)
c.7049T>C (p.Ile2350Thr)
c.7034T>C (p.Ile2345Thr)
c.6989T>C (p.Ile2330Thr)
c.6971T>C (p.Ile2324Thr)
c.6968T>C (p.Ile2323Thr)
c.6953T>C (p.Ile2318Thr)
c.6926T>C (p.Ile2309Thr)
c.6911T>C (p.Ile2304Thr)
c.6932T>C (p.Ile2311Thr)
c.6908T>C (p.Ile2303Thr)
9g.128632314T>GCA375099185SPTAN1c.6986T>G (p.Ile2329Ser)
c.7013T>G (p.Ile2338Ser)
c.7037T>G (p.Ile2346Ser)
c.6476T>G (p.Ile2159Ser)
c.4555T>G
c.2892T>G
c.6950T>G (p.Ile2317Ser)
n.674T>G
c.6875T>G (p.Ile2292Ser)
c.6935T>G (p.Ile2312Ser)
n.904T>G
n.707T>G
c.6890T>G (p.Ile2297Ser)
c.7049T>G (p.Ile2350Ser)
c.7034T>G (p.Ile2345Ser)
c.6989T>G (p.Ile2330Ser)
c.6971T>G (p.Ile2324Ser)
c.6968T>G (p.Ile2323Ser)
c.6953T>G (p.Ile2318Ser)
c.6926T>G (p.Ile2309Ser)
c.6911T>G (p.Ile2304Ser)
c.6932T>G (p.Ile2311Ser)
c.6908T>G (p.Ile2303Ser)
9g.128632315C>ACA467485000SPTAN1c.6987C>A (p.Ile2329=)
c.7014C>A (p.Ile2338=)
c.7038C>A (p.Ile2346=)
c.6477C>A (p.Ile2159=)
c.4556C>A
c.2893C>A
c.6951C>A (p.Ile2317=)
n.675C>A
c.6876C>A (p.Ile2292=)
c.6936C>A (p.Ile2312=)
n.905C>A
n.708C>A
c.6891C>A (p.Ile2297=)
c.7050C>A (p.Ile2350=)
c.7035C>A (p.Ile2345=)
c.6990C>A (p.Ile2330=)
c.6972C>A (p.Ile2324=)
c.6969C>A (p.Ile2323=)
c.6954C>A (p.Ile2318=)
c.6927C>A (p.Ile2309=)
c.6912C>A (p.Ile2304=)
c.6933C>A (p.Ile2311=)
c.6909C>A (p.Ile2303=)
9g.128632315C=CA1880371279SPTAN1c.6987C= (p.Ile2329=)
c.7014C= (p.Ile2338=)
c.7038C= (p.Ile2346=)
c.6477C= (p.Ile2159=)
c.4556C=
c.2893C=
c.6951C= (p.Ile2317=)
n.675C=
c.6876C= (p.Ile2292=)
c.6936C= (p.Ile2312=)
n.905C=
n.708C=
c.6891C= (p.Ile2297=)
c.7050C= (p.Ile2350=)
c.7035C= (p.Ile2345=)
c.6990C= (p.Ile2330=)
c.6972C= (p.Ile2324=)
c.6969C= (p.Ile2323=)
c.6954C= (p.Ile2318=)
c.6927C= (p.Ile2309=)
c.6912C= (p.Ile2304=)
c.6933C= (p.Ile2311=)
c.6909C= (p.Ile2303=)
9g.128632315C>GCA375099186SPTAN1c.6987C>G (p.Ile2329Met)
c.7014C>G (p.Ile2338Met)
c.7038C>G (p.Ile2346Met)
c.6477C>G (p.Ile2159Met)
c.4556C>G
c.2893C>G
c.6951C>G (p.Ile2317Met)
n.675C>G
c.6876C>G (p.Ile2292Met)
c.6936C>G (p.Ile2312Met)
n.905C>G
n.708C>G
c.6891C>G (p.Ile2297Met)
c.7050C>G (p.Ile2350Met)
c.7035C>G (p.Ile2345Met)
c.6990C>G (p.Ile2330Met)
c.6972C>G (p.Ile2324Met)
c.6969C>G (p.Ile2323Met)
c.6954C>G (p.Ile2318Met)
c.6927C>G (p.Ile2309Met)
c.6912C>G (p.Ile2304Met)
c.6933C>G (p.Ile2311Met)
c.6909C>G (p.Ile2303Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632315C>TCA5265931SPTAN1c.6987C>T (p.Ile2329=)
c.7014C>T (p.Ile2338=)
c.7038C>T (p.Ile2346=)
c.6477C>T (p.Ile2159=)
c.4556C>T
c.2893C>T
c.6951C>T (p.Ile2317=)
n.675C>T
c.6876C>T (p.Ile2292=)
c.6936C>T (p.Ile2312=)
n.905C>T
n.708C>T
c.6891C>T (p.Ile2297=)
c.7050C>T (p.Ile2350=)
c.7035C>T (p.Ile2345=)
c.6990C>T (p.Ile2330=)
c.6972C>T (p.Ile2324=)
c.6969C>T (p.Ile2323=)
c.6954C>T (p.Ile2318=)
c.6927C>T (p.Ile2309=)
c.6912C>T (p.Ile2304=)
c.6933C>T (p.Ile2311=)
c.6909C>T (p.Ile2303=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632316C>ACA375099194SPTAN1c.6988C>A (p.Gln2330Lys)
c.7015C>A (p.Gln2339Lys)
c.7039C>A (p.Gln2347Lys)
c.6478C>A (p.Gln2160Lys)
c.4557C>A
c.2894C>A
c.6952C>A (p.Gln2318Lys)
n.676C>A
c.6877C>A (p.Gln2293Lys)
c.6937C>A (p.Gln2313Lys)
n.906C>A
n.709C>A
c.6892C>A (p.Gln2298Lys)
c.7051C>A (p.Gln2351Lys)
c.7036C>A (p.Gln2346Lys)
c.6991C>A (p.Gln2331Lys)
c.6973C>A (p.Gln2325Lys)
c.6970C>A (p.Gln2324Lys)
c.6955C>A (p.Gln2319Lys)
c.6928C>A (p.Gln2310Lys)
c.6913C>A (p.Gln2305Lys)
c.6934C>A (p.Gln2312Lys)
c.6910C>A (p.Gln2304Lys)
 dbSNP gnomAD v2
9g.128632316C=CA1880371280SPTAN1c.6988C= (p.Gln2330=)
c.7015C= (p.Gln2339=)
c.7039C= (p.Gln2347=)
c.6478C= (p.Gln2160=)
c.4557C=
c.2894C=
c.6952C= (p.Gln2318=)
n.676C=
c.6877C= (p.Gln2293=)
c.6937C= (p.Gln2313=)
n.906C=
n.709C=
c.6892C= (p.Gln2298=)
c.7051C= (p.Gln2351=)
c.7036C= (p.Gln2346=)
c.6991C= (p.Gln2331=)
c.6973C= (p.Gln2325=)
c.6970C= (p.Gln2324=)
c.6955C= (p.Gln2319=)
c.6928C= (p.Gln2310=)
c.6913C= (p.Gln2305=)
c.6934C= (p.Gln2312=)
c.6910C= (p.Gln2304=)
9g.128632316C>GCA375099221SPTAN1c.6988C>G (p.Gln2330Glu)
c.7015C>G (p.Gln2339Glu)
c.7039C>G (p.Gln2347Glu)
c.6478C>G (p.Gln2160Glu)
c.4557C>G
c.2894C>G
c.6952C>G (p.Gln2318Glu)
n.676C>G
c.6877C>G (p.Gln2293Glu)
c.6937C>G (p.Gln2313Glu)
n.906C>G
n.709C>G
c.6892C>G (p.Gln2298Glu)
c.7051C>G (p.Gln2351Glu)
c.7036C>G (p.Gln2346Glu)
c.6991C>G (p.Gln2331Glu)
c.6973C>G (p.Gln2325Glu)
c.6970C>G (p.Gln2324Glu)
c.6955C>G (p.Gln2319Glu)
c.6928C>G (p.Gln2310Glu)
c.6913C>G (p.Gln2305Glu)
c.6934C>G (p.Gln2312Glu)
c.6910C>G (p.Gln2304Glu)
9g.128632316C>TCA375099228SPTAN1c.6988C>T (p.Gln2330Ter)
c.7015C>T (p.Gln2339Ter)
c.7039C>T (p.Gln2347Ter)
c.6478C>T (p.Gln2160Ter)
c.4557C>T
c.2894C>T
c.6952C>T (p.Gln2318Ter)
n.676C>T
c.6877C>T (p.Gln2293Ter)
c.6937C>T (p.Gln2313Ter)
n.906C>T
n.709C>T
c.6892C>T (p.Gln2298Ter)
c.7051C>T (p.Gln2351Ter)
c.7036C>T (p.Gln2346Ter)
c.6991C>T (p.Gln2331Ter)
c.6973C>T (p.Gln2325Ter)
c.6970C>T (p.Gln2324Ter)
c.6955C>T (p.Gln2319Ter)
c.6928C>T (p.Gln2310Ter)
c.6913C>T (p.Gln2305Ter)
c.6934C>T (p.Gln2312Ter)
c.6910C>T (p.Gln2304Ter)
9g.128632317A>CCA375099233SPTAN1c.6989A>C (p.Gln2330Pro)
c.7016A>C (p.Gln2339Pro)
c.7040A>C (p.Gln2347Pro)
c.6479A>C (p.Gln2160Pro)
c.4558A>C
c.2895A>C
c.6953A>C (p.Gln2318Pro)
n.677A>C
c.6878A>C (p.Gln2293Pro)
c.6938A>C (p.Gln2313Pro)
n.907A>C
n.710A>C
c.6893A>C (p.Gln2298Pro)
c.7052A>C (p.Gln2351Pro)
c.7037A>C (p.Gln2346Pro)
c.6992A>C (p.Gln2331Pro)
c.6974A>C (p.Gln2325Pro)
c.6971A>C (p.Gln2324Pro)
c.6956A>C (p.Gln2319Pro)
c.6929A>C (p.Gln2310Pro)
c.6914A>C (p.Gln2305Pro)
c.6935A>C (p.Gln2312Pro)
c.6911A>C (p.Gln2304Pro)
9g.128632317A>GCA375099235SPTAN1c.6989A>G (p.Gln2330Arg)
c.7016A>G (p.Gln2339Arg)
c.7040A>G (p.Gln2347Arg)
c.6479A>G (p.Gln2160Arg)
c.4558A>G
c.2895A>G
c.6953A>G (p.Gln2318Arg)
n.677A>G
c.6878A>G (p.Gln2293Arg)
c.6938A>G (p.Gln2313Arg)
n.907A>G
n.710A>G
c.6893A>G (p.Gln2298Arg)
c.7052A>G (p.Gln2351Arg)
c.7037A>G (p.Gln2346Arg)
c.6992A>G (p.Gln2331Arg)
c.6974A>G (p.Gln2325Arg)
c.6971A>G (p.Gln2324Arg)
c.6956A>G (p.Gln2319Arg)
c.6929A>G (p.Gln2310Arg)
c.6914A>G (p.Gln2305Arg)
c.6935A>G (p.Gln2312Arg)
c.6911A>G (p.Gln2304Arg)
9g.128632317A>TCA375099236SPTAN1c.6989A>T (p.Gln2330Leu)
c.7016A>T (p.Gln2339Leu)
c.7040A>T (p.Gln2347Leu)
c.6479A>T (p.Gln2160Leu)
c.4558A>T
c.2895A>T
c.6953A>T (p.Gln2318Leu)
n.677A>T
c.6878A>T (p.Gln2293Leu)
c.6938A>T (p.Gln2313Leu)
n.907A>T
n.710A>T
c.6893A>T (p.Gln2298Leu)
c.7052A>T (p.Gln2351Leu)
c.7037A>T (p.Gln2346Leu)
c.6992A>T (p.Gln2331Leu)
c.6974A>T (p.Gln2325Leu)
c.6971A>T (p.Gln2324Leu)
c.6956A>T (p.Gln2319Leu)
c.6929A>T (p.Gln2310Leu)
c.6914A>T (p.Gln2305Leu)
c.6935A>T (p.Gln2312Leu)
c.6911A>T (p.Gln2304Leu)
9g.128632318G>ACA467485002SPTAN1c.6990G>A (p.Gln2330=)
c.7017G>A (p.Gln2339=)
c.7041G>A (p.Gln2347=)
c.6480G>A (p.Gln2160=)
c.4559G>A
c.2896G>A
c.6954G>A (p.Gln2318=)
n.678G>A
c.6879G>A (p.Gln2293=)
c.6939G>A (p.Gln2313=)
n.908G>A
n.711G>A
c.6894G>A (p.Gln2298=)
c.7053G>A (p.Gln2351=)
c.7038G>A (p.Gln2346=)
c.6993G>A (p.Gln2331=)
c.6975G>A (p.Gln2325=)
c.6972G>A (p.Gln2324=)
c.6957G>A (p.Gln2319=)
c.6930G>A (p.Gln2310=)
c.6915G>A (p.Gln2305=)
c.6936G>A (p.Gln2312=)
c.6912G>A (p.Gln2304=)
9g.128632318G>CCA375099241SPTAN1c.6990G>C (p.Gln2330His)
c.7017G>C (p.Gln2339His)
c.7041G>C (p.Gln2347His)
c.6480G>C (p.Gln2160His)
c.4559G>C
c.2896G>C
c.6954G>C (p.Gln2318His)
n.678G>C
c.6879G>C (p.Gln2293His)
c.6939G>C (p.Gln2313His)
n.908G>C
n.711G>C
c.6894G>C (p.Gln2298His)
c.7053G>C (p.Gln2351His)
c.7038G>C (p.Gln2346His)
c.6993G>C (p.Gln2331His)
c.6975G>C (p.Gln2325His)
c.6972G>C (p.Gln2324His)
c.6957G>C (p.Gln2319His)
c.6930G>C (p.Gln2310His)
c.6915G>C (p.Gln2305His)
c.6936G>C (p.Gln2312His)
c.6912G>C (p.Gln2304His)
9g.128632318G>TCA375099245SPTAN1c.6990G>T (p.Gln2330His)
c.7017G>T (p.Gln2339His)
c.7041G>T (p.Gln2347His)
c.6480G>T (p.Gln2160His)
c.4559G>T
c.2896G>T
c.6954G>T (p.Gln2318His)
n.678G>T
c.6879G>T (p.Gln2293His)
c.6939G>T (p.Gln2313His)
n.908G>T
n.711G>T
c.6894G>T (p.Gln2298His)
c.7053G>T (p.Gln2351His)
c.7038G>T (p.Gln2346His)
c.6993G>T (p.Gln2331His)
c.6975G>T (p.Gln2325His)
c.6972G>T (p.Gln2324His)
c.6957G>T (p.Gln2319His)
c.6930G>T (p.Gln2310His)
c.6915G>T (p.Gln2305His)
c.6936G>T (p.Gln2312His)
c.6912G>T (p.Gln2304His)
9g.128632319G>ACA375099247SPTAN1c.6991G>A (p.Ala2331Thr)
c.7018G>A (p.Ala2340Thr)
c.7042G>A (p.Ala2348Thr)
c.6481G>A (p.Ala2161Thr)
c.4560G>A
c.2897G>A
c.6955G>A (p.Ala2319Thr)
n.679G>A
c.6880G>A (p.Ala2294Thr)
c.6940G>A (p.Ala2314Thr)
n.909G>A
n.712G>A
c.6895G>A (p.Ala2299Thr)
c.7054G>A (p.Ala2352Thr)
c.7039G>A (p.Ala2347Thr)
c.6994G>A (p.Ala2332Thr)
c.6976G>A (p.Ala2326Thr)
c.6973G>A (p.Ala2325Thr)
c.6958G>A (p.Ala2320Thr)
c.6931G>A (p.Ala2311Thr)
c.6916G>A (p.Ala2306Thr)
c.6937G>A (p.Ala2313Thr)
c.6913G>A (p.Ala2305Thr)
9g.128632319G>CCA375099250SPTAN1c.6991G>C (p.Ala2331Pro)
c.7018G>C (p.Ala2340Pro)
c.7042G>C (p.Ala2348Pro)
c.6481G>C (p.Ala2161Pro)
c.4560G>C
c.2897G>C
c.6955G>C (p.Ala2319Pro)
n.679G>C
c.6880G>C (p.Ala2294Pro)
c.6940G>C (p.Ala2314Pro)
n.909G>C
n.712G>C
c.6895G>C (p.Ala2299Pro)
c.7054G>C (p.Ala2352Pro)
c.7039G>C (p.Ala2347Pro)
c.6994G>C (p.Ala2332Pro)
c.6976G>C (p.Ala2326Pro)
c.6973G>C (p.Ala2325Pro)
c.6958G>C (p.Ala2320Pro)
c.6931G>C (p.Ala2311Pro)
c.6916G>C (p.Ala2306Pro)
c.6937G>C (p.Ala2313Pro)
c.6913G>C (p.Ala2305Pro)
9g.128632319G>TCA375099252SPTAN1c.6991G>T (p.Ala2331Ser)
c.7018G>T (p.Ala2340Ser)
c.7042G>T (p.Ala2348Ser)
c.6481G>T (p.Ala2161Ser)
c.4560G>T
c.2897G>T
c.6955G>T (p.Ala2319Ser)
n.679G>T
c.6880G>T (p.Ala2294Ser)
c.6940G>T (p.Ala2314Ser)
n.909G>T
n.712G>T
c.6895G>T (p.Ala2299Ser)
c.7054G>T (p.Ala2352Ser)
c.7039G>T (p.Ala2347Ser)
c.6994G>T (p.Ala2332Ser)
c.6976G>T (p.Ala2326Ser)
c.6973G>T (p.Ala2325Ser)
c.6958G>T (p.Ala2320Ser)
c.6931G>T (p.Ala2311Ser)
c.6916G>T (p.Ala2306Ser)
c.6937G>T (p.Ala2313Ser)
c.6913G>T (p.Ala2305Ser)
9g.128632320C>ACA375099254SPTAN1c.6992C>A (p.Ala2331Asp)
c.7019C>A (p.Ala2340Asp)
c.7043C>A (p.Ala2348Asp)
c.6482C>A (p.Ala2161Asp)
c.4561C>A
c.2898C>A
c.6956C>A (p.Ala2319Asp)
n.680C>A
c.6881C>A (p.Ala2294Asp)
c.6941C>A (p.Ala2314Asp)
n.910C>A
n.713C>A
c.6896C>A (p.Ala2299Asp)
c.7055C>A (p.Ala2352Asp)
c.7040C>A (p.Ala2347Asp)
c.6995C>A (p.Ala2332Asp)
c.6977C>A (p.Ala2326Asp)
c.6974C>A (p.Ala2325Asp)
c.6959C>A (p.Ala2320Asp)
c.6932C>A (p.Ala2311Asp)
c.6917C>A (p.Ala2306Asp)
c.6938C>A (p.Ala2313Asp)
c.6914C>A (p.Ala2305Asp)
 ClinVar dbSNP
9g.128632320C>GCA375099256SPTAN1c.6992C>G (p.Ala2331Gly)
c.7019C>G (p.Ala2340Gly)
c.7043C>G (p.Ala2348Gly)
c.6482C>G (p.Ala2161Gly)
c.4561C>G
c.2898C>G
c.6956C>G (p.Ala2319Gly)
n.680C>G
c.6881C>G (p.Ala2294Gly)
c.6941C>G (p.Ala2314Gly)
n.910C>G
n.713C>G
c.6896C>G (p.Ala2299Gly)
c.7055C>G (p.Ala2352Gly)
c.7040C>G (p.Ala2347Gly)
c.6995C>G (p.Ala2332Gly)
c.6977C>G (p.Ala2326Gly)
c.6974C>G (p.Ala2325Gly)
c.6959C>G (p.Ala2320Gly)
c.6932C>G (p.Ala2311Gly)
c.6917C>G (p.Ala2306Gly)
c.6938C>G (p.Ala2313Gly)
c.6914C>G (p.Ala2305Gly)
9g.128632320C>TCA375099261SPTAN1c.6992C>T (p.Ala2331Val)
c.7019C>T (p.Ala2340Val)
c.7043C>T (p.Ala2348Val)
c.6482C>T (p.Ala2161Val)
c.4561C>T
c.2898C>T
c.6956C>T (p.Ala2319Val)
n.680C>T
c.6881C>T (p.Ala2294Val)
c.6941C>T (p.Ala2314Val)
n.910C>T
n.713C>T
c.6896C>T (p.Ala2299Val)
c.7055C>T (p.Ala2352Val)
c.7040C>T (p.Ala2347Val)
c.6995C>T (p.Ala2332Val)
c.6977C>T (p.Ala2326Val)
c.6974C>T (p.Ala2325Val)
c.6959C>T (p.Ala2320Val)
c.6932C>T (p.Ala2311Val)
c.6917C>T (p.Ala2306Val)
c.6938C>T (p.Ala2313Val)
c.6914C>T (p.Ala2305Val)
9g.128632321C>ACA467485004SPTAN1c.6993C>A (p.Ala2331=)
c.7020C>A (p.Ala2340=)
c.7044C>A (p.Ala2348=)
c.6483C>A (p.Ala2161=)
c.4562C>A
c.2899C>A
c.6957C>A (p.Ala2319=)
n.681C>A
c.6882C>A (p.Ala2294=)
c.6942C>A (p.Ala2314=)
n.911C>A
n.714C>A
c.6897C>A (p.Ala2299=)
c.7056C>A (p.Ala2352=)
c.7041C>A (p.Ala2347=)
c.6996C>A (p.Ala2332=)
c.6978C>A (p.Ala2326=)
c.6975C>A (p.Ala2325=)
c.6960C>A (p.Ala2320=)
c.6933C>A (p.Ala2311=)
c.6918C>A (p.Ala2306=)
c.6939C>A (p.Ala2313=)
c.6915C>A (p.Ala2305=)
9g.128632321C>GCA467485005SPTAN1c.6993C>G (p.Ala2331=)
c.7020C>G (p.Ala2340=)
c.7044C>G (p.Ala2348=)
c.6483C>G (p.Ala2161=)
c.4562C>G
c.2899C>G
c.6957C>G (p.Ala2319=)
n.681C>G
c.6882C>G (p.Ala2294=)
c.6942C>G (p.Ala2314=)
n.911C>G
n.714C>G
c.6897C>G (p.Ala2299=)
c.7056C>G (p.Ala2352=)
c.7041C>G (p.Ala2347=)
c.6996C>G (p.Ala2332=)
c.6978C>G (p.Ala2326=)
c.6975C>G (p.Ala2325=)
c.6960C>G (p.Ala2320=)
c.6933C>G (p.Ala2311=)
c.6918C>G (p.Ala2306=)
c.6939C>G (p.Ala2313=)
c.6915C>G (p.Ala2305=)
9g.128632321C>TCA467485006SPTAN1c.6993C>T (p.Ala2331=)
c.7020C>T (p.Ala2340=)
c.7044C>T (p.Ala2348=)
c.6483C>T (p.Ala2161=)
c.4562C>T
c.2899C>T
c.6957C>T (p.Ala2319=)
n.681C>T
c.6882C>T (p.Ala2294=)
c.6942C>T (p.Ala2314=)
n.911C>T
n.714C>T
c.6897C>T (p.Ala2299=)
c.7056C>T (p.Ala2352=)
c.7041C>T (p.Ala2347=)
c.6996C>T (p.Ala2332=)
c.6978C>T (p.Ala2326=)
c.6975C>T (p.Ala2325=)
c.6960C>T (p.Ala2320=)
c.6933C>T (p.Ala2311=)
c.6918C>T (p.Ala2306=)
c.6939C>T (p.Ala2313=)
c.6915C>T (p.Ala2305=)
 gnomAD v4
9g.128632322A>CCA467485007SPTAN1c.6994A>C (p.Arg2332=)
c.7021A>C (p.Arg2341=)
c.7045A>C (p.Arg2349=)
c.6484A>C (p.Arg2162=)
c.4563A>C
c.2900A>C
c.6958A>C (p.Arg2320=)
n.682A>C
c.6883A>C (p.Arg2295=)
c.6943A>C (p.Arg2315=)
n.912A>C
n.715A>C
c.6898A>C (p.Arg2300=)
c.7057A>C (p.Arg2353=)
c.7042A>C (p.Arg2348=)
c.6997A>C (p.Arg2333=)
c.6979A>C (p.Arg2327=)
c.6976A>C (p.Arg2326=)
c.6961A>C (p.Arg2321=)
c.6934A>C (p.Arg2312=)
c.6919A>C (p.Arg2307=)
c.6940A>C (p.Arg2314=)
c.6916A>C (p.Arg2306=)
 gnomAD v4
9g.128632322A>GCA375099264SPTAN1c.6994A>G (p.Arg2332Gly)
c.7021A>G (p.Arg2341Gly)
c.7045A>G (p.Arg2349Gly)
c.6484A>G (p.Arg2162Gly)
c.4563A>G
c.2900A>G
c.6958A>G (p.Arg2320Gly)
n.682A>G
c.6883A>G (p.Arg2295Gly)
c.6943A>G (p.Arg2315Gly)
n.912A>G
n.715A>G
c.6898A>G (p.Arg2300Gly)
c.7057A>G (p.Arg2353Gly)
c.7042A>G (p.Arg2348Gly)
c.6997A>G (p.Arg2333Gly)
c.6979A>G (p.Arg2327Gly)
c.6976A>G (p.Arg2326Gly)
c.6961A>G (p.Arg2321Gly)
c.6934A>G (p.Arg2312Gly)
c.6919A>G (p.Arg2307Gly)
c.6940A>G (p.Arg2314Gly)
c.6916A>G (p.Arg2306Gly)
9g.128632322A>TCA375099266SPTAN1c.6994A>T (p.Arg2332Trp)
c.7021A>T (p.Arg2341Trp)
c.7045A>T (p.Arg2349Trp)
c.6484A>T (p.Arg2162Trp)
c.4563A>T
c.2900A>T
c.6958A>T (p.Arg2320Trp)
n.682A>T
c.6883A>T (p.Arg2295Trp)
c.6943A>T (p.Arg2315Trp)
n.912A>T
n.715A>T
c.6898A>T (p.Arg2300Trp)
c.7057A>T (p.Arg2353Trp)
c.7042A>T (p.Arg2348Trp)
c.6997A>T (p.Arg2333Trp)
c.6979A>T (p.Arg2327Trp)
c.6976A>T (p.Arg2326Trp)
c.6961A>T (p.Arg2321Trp)
c.6934A>T (p.Arg2312Trp)
c.6919A>T (p.Arg2307Trp)
c.6940A>T (p.Arg2314Trp)
c.6916A>T (p.Arg2306Trp)
9g.128632323G>ACA375099269SPTAN1c.6995G>A (p.Arg2332Lys)
c.7022G>A (p.Arg2341Lys)
c.7046G>A (p.Arg2349Lys)
c.6485G>A (p.Arg2162Lys)
c.4564G>A
c.2901G>A
c.6959G>A (p.Arg2320Lys)
n.683G>A
c.6884G>A (p.Arg2295Lys)
c.6944G>A (p.Arg2315Lys)
n.913G>A
n.716G>A
c.6899G>A (p.Arg2300Lys)
c.7058G>A (p.Arg2353Lys)
c.7043G>A (p.Arg2348Lys)
c.6998G>A (p.Arg2333Lys)
c.6980G>A (p.Arg2327Lys)
c.6977G>A (p.Arg2326Lys)
c.6962G>A (p.Arg2321Lys)
c.6935G>A (p.Arg2312Lys)
c.6920G>A (p.Arg2307Lys)
c.6941G>A (p.Arg2314Lys)
c.6917G>A (p.Arg2306Lys)
9g.128632323G>CCA375099271SPTAN1c.6995G>C (p.Arg2332Thr)
c.7022G>C (p.Arg2341Thr)
c.7046G>C (p.Arg2349Thr)
c.6485G>C (p.Arg2162Thr)
c.4564G>C
c.2901G>C
c.6959G>C (p.Arg2320Thr)
n.683G>C
c.6884G>C (p.Arg2295Thr)
c.6944G>C (p.Arg2315Thr)
n.913G>C
n.716G>C
c.6899G>C (p.Arg2300Thr)
c.7058G>C (p.Arg2353Thr)
c.7043G>C (p.Arg2348Thr)
c.6998G>C (p.Arg2333Thr)
c.6980G>C (p.Arg2327Thr)
c.6977G>C (p.Arg2326Thr)
c.6962G>C (p.Arg2321Thr)
c.6935G>C (p.Arg2312Thr)
c.6920G>C (p.Arg2307Thr)
c.6941G>C (p.Arg2314Thr)
c.6917G>C (p.Arg2306Thr)
9g.128632323G>TCA375099275SPTAN1c.6995G>T (p.Arg2332Met)
c.7022G>T (p.Arg2341Met)
c.7046G>T (p.Arg2349Met)
c.6485G>T (p.Arg2162Met)
c.4564G>T
c.2901G>T
c.6959G>T (p.Arg2320Met)
n.683G>T
c.6884G>T (p.Arg2295Met)
c.6944G>T (p.Arg2315Met)
n.913G>T
n.716G>T
c.6899G>T (p.Arg2300Met)
c.7058G>T (p.Arg2353Met)
c.7043G>T (p.Arg2348Met)
c.6998G>T (p.Arg2333Met)
c.6980G>T (p.Arg2327Met)
c.6977G>T (p.Arg2326Met)
c.6962G>T (p.Arg2321Met)
c.6935G>T (p.Arg2312Met)
c.6920G>T (p.Arg2307Met)
c.6941G>T (p.Arg2314Met)
c.6917G>T (p.Arg2306Met)
9g.128632324G>ACA375099287SPTAN1c.6995+1G>A (n.6995+1G>A)
c.7022+1G>A (n.7022+1G>A)
c.7046+1G>A (n.7046+1G>A)
c.6485+1G>A (n.6485+1G>A)
c.4564+1G>A
c.2901+1G>A
c.6959+1G>A (n.6959+1G>A)
n.683+1G>A
c.6884+1G>A (n.6884+1G>A)
c.6944+1G>A (n.6944+1G>A)
n.913+1G>A
n.716+1G>A
c.6899+1G>A (n.6899+1G>A)
c.7058+1G>A (n.7058+1G>A)
c.7043+1G>A (n.7043+1G>A)
c.6998+1G>A (n.6998+1G>A)
c.6980+1G>A (n.6980+1G>A)
c.6977+1G>A (n.6977+1G>A)
c.6962+1G>A (n.6962+1G>A)
c.6935+1G>A (n.6935+1G>A)
c.6920+1G>A (n.6920+1G>A)
c.6941+1G>A (n.6941+1G>A)
c.6917+1G>A (n.6917+1G>A)
9g.128632324G>CCA375099282SPTAN1c.6995+1G>C (n.6995+1G>C)
c.7022+1G>C (n.7022+1G>C)
c.7046+1G>C (n.7046+1G>C)
c.6485+1G>C (n.6485+1G>C)
c.4564+1G>C
c.2901+1G>C
c.6959+1G>C (n.6959+1G>C)
n.683+1G>C
c.6884+1G>C (n.6884+1G>C)
c.6944+1G>C (n.6944+1G>C)
n.913+1G>C
n.716+1G>C
c.6899+1G>C (n.6899+1G>C)
c.7058+1G>C (n.7058+1G>C)
c.7043+1G>C (n.7043+1G>C)
c.6998+1G>C (n.6998+1G>C)
c.6980+1G>C (n.6980+1G>C)
c.6977+1G>C (n.6977+1G>C)
c.6962+1G>C (n.6962+1G>C)
c.6935+1G>C (n.6935+1G>C)
c.6920+1G>C (n.6920+1G>C)
c.6941+1G>C (n.6941+1G>C)
c.6917+1G>C (n.6917+1G>C)
9g.128632324G>TCA375099278SPTAN1c.6995+1G>T (n.6995+1G>T)
c.7022+1G>T (n.7022+1G>T)
c.7046+1G>T (n.7046+1G>T)
c.6485+1G>T (n.6485+1G>T)
c.4564+1G>T
c.2901+1G>T
c.6959+1G>T (n.6959+1G>T)
n.683+1G>T
c.6884+1G>T (n.6884+1G>T)
c.6944+1G>T (n.6944+1G>T)
n.913+1G>T
n.716+1G>T
c.6899+1G>T (n.6899+1G>T)
c.7058+1G>T (n.7058+1G>T)
c.7043+1G>T (n.7043+1G>T)
c.6998+1G>T (n.6998+1G>T)
c.6980+1G>T (n.6980+1G>T)
c.6977+1G>T (n.6977+1G>T)
c.6962+1G>T (n.6962+1G>T)
c.6935+1G>T (n.6935+1G>T)
c.6920+1G>T (n.6920+1G>T)
c.6941+1G>T (n.6941+1G>T)
c.6917+1G>T (n.6917+1G>T)
 ClinVar
9g.128632325T>ACA375099294SPTAN1c.6995+2T>A (n.6995+2T>A)
c.7022+2T>A (n.7022+2T>A)
c.7046+2T>A (n.7046+2T>A)
c.6485+2T>A (n.6485+2T>A)
c.4564+2T>A
c.2901+2T>A
c.6959+2T>A (n.6959+2T>A)
n.683+2T>A
c.6884+2T>A (n.6884+2T>A)
c.6944+2T>A (n.6944+2T>A)
n.913+2T>A
n.716+2T>A
c.6899+2T>A (n.6899+2T>A)
c.7058+2T>A (n.7058+2T>A)
c.7043+2T>A (n.7043+2T>A)
c.6998+2T>A (n.6998+2T>A)
c.6980+2T>A (n.6980+2T>A)
c.6977+2T>A (n.6977+2T>A)
c.6962+2T>A (n.6962+2T>A)
c.6935+2T>A (n.6935+2T>A)
c.6920+2T>A (n.6920+2T>A)
c.6941+2T>A (n.6941+2T>A)
c.6917+2T>A (n.6917+2T>A)
9g.128632325T>CCA375099307SPTAN1c.6995+2T>C (n.6995+2T>C)
c.7022+2T>C (n.7022+2T>C)
c.7046+2T>C (n.7046+2T>C)
c.6485+2T>C (n.6485+2T>C)
c.4564+2T>C
c.2901+2T>C
c.6959+2T>C (n.6959+2T>C)
n.683+2T>C
c.6884+2T>C (n.6884+2T>C)
c.6944+2T>C (n.6944+2T>C)
n.913+2T>C
n.716+2T>C
c.6899+2T>C (n.6899+2T>C)
c.7058+2T>C (n.7058+2T>C)
c.7043+2T>C (n.7043+2T>C)
c.6998+2T>C (n.6998+2T>C)
c.6980+2T>C (n.6980+2T>C)
c.6977+2T>C (n.6977+2T>C)
c.6962+2T>C (n.6962+2T>C)
c.6935+2T>C (n.6935+2T>C)
c.6920+2T>C (n.6920+2T>C)
c.6941+2T>C (n.6941+2T>C)
c.6917+2T>C (n.6917+2T>C)
9g.128632325T>GCA375099304SPTAN1c.6995+2T>G (n.6995+2T>G)
c.7022+2T>G (n.7022+2T>G)
c.7046+2T>G (n.7046+2T>G)
c.6485+2T>G (n.6485+2T>G)
c.4564+2T>G
c.2901+2T>G
c.6959+2T>G (n.6959+2T>G)
n.683+2T>G
c.6884+2T>G (n.6884+2T>G)
c.6944+2T>G (n.6944+2T>G)
n.913+2T>G
n.716+2T>G
c.6899+2T>G (n.6899+2T>G)
c.7058+2T>G (n.7058+2T>G)
c.7043+2T>G (n.7043+2T>G)
c.6998+2T>G (n.6998+2T>G)
c.6980+2T>G (n.6980+2T>G)
c.6977+2T>G (n.6977+2T>G)
c.6962+2T>G (n.6962+2T>G)
c.6935+2T>G (n.6935+2T>G)
c.6920+2T>G (n.6920+2T>G)
c.6941+2T>G (n.6941+2T>G)
c.6917+2T>G (n.6917+2T>G)
9g.128632326delCA2691941340SPTAN1c.6995+3del (n.6995+3del)
c.7022+3del (n.7022+3del)
c.7046+3del (n.7046+3del)
c.6485+3del (n.6485+3del)
c.4564+3del
c.2901+3del
c.6959+3del (n.6959+3del)
n.683+3del
c.6884+3del (n.6884+3del)
c.6944+3del (n.6944+3del)
n.913+3del
n.716+3del
c.6899+3del (n.6899+3del)
c.7058+3del (n.7058+3del)
c.7043+3del (n.7043+3del)
c.6998+3del (n.6998+3del)
c.6980+3del (n.6980+3del)
c.6977+3del (n.6977+3del)
c.6962+3del (n.6962+3del)
c.6935+3del (n.6935+3del)
c.6920+3del (n.6920+3del)
c.6941+3del (n.6941+3del)
c.6917+3del (n.6917+3del)
 gnomAD v4
9g.128632326A=CA1880371281SPTAN1c.6995+3A= (n.6995+3A=)
c.7022+3A= (n.7022+3A=)
c.7046+3A= (n.7046+3A=)
c.6485+3A= (n.6485+3A=)
c.4564+3A=
c.2901+3A=
c.6959+3A= (n.6959+3A=)
n.683+3A=
c.6884+3A= (n.6884+3A=)
c.6944+3A= (n.6944+3A=)
n.913+3A=
n.716+3A=
c.6899+3A= (n.6899+3A=)
c.7058+3A= (n.7058+3A=)
c.7043+3A= (n.7043+3A=)
c.6998+3A= (n.6998+3A=)
c.6980+3A= (n.6980+3A=)
c.6977+3A= (n.6977+3A=)
c.6962+3A= (n.6962+3A=)
c.6935+3A= (n.6935+3A=)
c.6920+3A= (n.6920+3A=)
c.6941+3A= (n.6941+3A=)
c.6917+3A= (n.6917+3A=)
9g.128632326A>GCA590941600SPTAN1c.6995+3A>G (n.6995+3A>G)
c.7022+3A>G (n.7022+3A>G)
c.7046+3A>G (n.7046+3A>G)
c.6485+3A>G (n.6485+3A>G)
c.4564+3A>G
c.2901+3A>G
c.6959+3A>G (n.6959+3A>G)
n.683+3A>G
c.6884+3A>G (n.6884+3A>G)
c.6944+3A>G (n.6944+3A>G)
n.913+3A>G
n.716+3A>G
c.6899+3A>G (n.6899+3A>G)
c.7058+3A>G (n.7058+3A>G)
c.7043+3A>G (n.7043+3A>G)
c.6998+3A>G (n.6998+3A>G)
c.6980+3A>G (n.6980+3A>G)
c.6977+3A>G (n.6977+3A>G)
c.6962+3A>G (n.6962+3A>G)
c.6935+3A>G (n.6935+3A>G)
c.6920+3A>G (n.6920+3A>G)
c.6941+3A>G (n.6941+3A>G)
c.6917+3A>G (n.6917+3A>G)
 dbSNP gnomAD v2 gnomAD v4
9g.128632327C=CA1880371282SPTAN1c.6995+4C= (n.6995+4C=)
c.7022+4C= (n.7022+4C=)
c.7046+4C= (n.7046+4C=)
c.6485+4C= (n.6485+4C=)
c.4564+4C=
c.2901+4C=
c.6959+4C= (n.6959+4C=)
n.683+4C=
c.6884+4C= (n.6884+4C=)
c.6944+4C= (n.6944+4C=)
n.913+4C=
n.716+4C=
c.6899+4C= (n.6899+4C=)
c.7058+4C= (n.7058+4C=)
c.7043+4C= (n.7043+4C=)
c.6998+4C= (n.6998+4C=)
c.6980+4C= (n.6980+4C=)
c.6977+4C= (n.6977+4C=)
c.6962+4C= (n.6962+4C=)
c.6935+4C= (n.6935+4C=)
c.6920+4C= (n.6920+4C=)
c.6941+4C= (n.6941+4C=)
c.6917+4C= (n.6917+4C=)
9g.128632327C>GCA2691941341SPTAN1c.6995+4C>G (n.6995+4C>G)
c.7022+4C>G (n.7022+4C>G)
c.7046+4C>G (n.7046+4C>G)
c.6485+4C>G (n.6485+4C>G)
c.4564+4C>G
c.2901+4C>G
c.6959+4C>G (n.6959+4C>G)
n.683+4C>G
c.6884+4C>G (n.6884+4C>G)
c.6944+4C>G (n.6944+4C>G)
n.913+4C>G
n.716+4C>G
c.6899+4C>G (n.6899+4C>G)
c.7058+4C>G (n.7058+4C>G)
c.7043+4C>G (n.7043+4C>G)
c.6998+4C>G (n.6998+4C>G)
c.6980+4C>G (n.6980+4C>G)
c.6977+4C>G (n.6977+4C>G)
c.6962+4C>G (n.6962+4C>G)
c.6935+4C>G (n.6935+4C>G)
c.6920+4C>G (n.6920+4C>G)
c.6941+4C>G (n.6941+4C>G)
c.6917+4C>G (n.6917+4C>G)
 gnomAD v4
9g.128632327C>TCA200412552SPTAN1c.6995+4C>T (n.6995+4C>T)
c.7022+4C>T (n.7022+4C>T)
c.7046+4C>T (n.7046+4C>T)
c.6485+4C>T (n.6485+4C>T)
c.4564+4C>T
c.2901+4C>T
c.6959+4C>T (n.6959+4C>T)
n.683+4C>T
c.6884+4C>T (n.6884+4C>T)
c.6944+4C>T (n.6944+4C>T)
n.913+4C>T
n.716+4C>T
c.6899+4C>T (n.6899+4C>T)
c.7058+4C>T (n.7058+4C>T)
c.7043+4C>T (n.7043+4C>T)
c.6998+4C>T (n.6998+4C>T)
c.6980+4C>T (n.6980+4C>T)
c.6977+4C>T (n.6977+4C>T)
c.6962+4C>T (n.6962+4C>T)
c.6935+4C>T (n.6935+4C>T)
c.6920+4C>T (n.6920+4C>T)
c.6941+4C>T (n.6941+4C>T)
c.6917+4C>T (n.6917+4C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632328C=CA1880371283SPTAN1c.6995+5C= (n.6995+5C=)
c.7022+5C= (n.7022+5C=)
c.7046+5C= (n.7046+5C=)
c.6485+5C= (n.6485+5C=)
c.4564+5C=
c.2901+5C=
c.6959+5C= (n.6959+5C=)
n.683+5C=
c.6884+5C= (n.6884+5C=)
c.6944+5C= (n.6944+5C=)
n.913+5C=
n.716+5C=
c.6899+5C= (n.6899+5C=)
c.7058+5C= (n.7058+5C=)
c.7043+5C= (n.7043+5C=)
c.6998+5C= (n.6998+5C=)
c.6980+5C= (n.6980+5C=)
c.6977+5C= (n.6977+5C=)
c.6962+5C= (n.6962+5C=)
c.6935+5C= (n.6935+5C=)
c.6920+5C= (n.6920+5C=)
c.6941+5C= (n.6941+5C=)
c.6917+5C= (n.6917+5C=)
9g.128632328C>GCA16605370SPTAN1c.6995+5C>G (n.6995+5C>G)
c.7022+5C>G (n.7022+5C>G)
c.7046+5C>G (n.7046+5C>G)
c.6485+5C>G (n.6485+5C>G)
c.4564+5C>G
c.2901+5C>G
c.6959+5C>G (n.6959+5C>G)
n.683+5C>G
c.6884+5C>G (n.6884+5C>G)
c.6944+5C>G (n.6944+5C>G)
n.913+5C>G
n.716+5C>G
c.6899+5C>G (n.6899+5C>G)
c.7058+5C>G (n.7058+5C>G)
c.7043+5C>G (n.7043+5C>G)
c.6998+5C>G (n.6998+5C>G)
c.6980+5C>G (n.6980+5C>G)
c.6977+5C>G (n.6977+5C>G)
c.6962+5C>G (n.6962+5C>G)
c.6935+5C>G (n.6935+5C>G)
c.6920+5C>G (n.6920+5C>G)
c.6941+5C>G (n.6941+5C>G)
c.6917+5C>G (n.6917+5C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632328C>TCA658797300SPTAN1c.6995+5C>T (n.6995+5C>T)
c.7022+5C>T (n.7022+5C>T)
c.7046+5C>T (n.7046+5C>T)
c.6485+5C>T (n.6485+5C>T)
c.4564+5C>T
c.2901+5C>T
c.6959+5C>T (n.6959+5C>T)
n.683+5C>T
c.6884+5C>T (n.6884+5C>T)
c.6944+5C>T (n.6944+5C>T)
n.913+5C>T
n.716+5C>T
c.6899+5C>T (n.6899+5C>T)
c.7058+5C>T (n.7058+5C>T)
c.7043+5C>T (n.7043+5C>T)
c.6998+5C>T (n.6998+5C>T)
c.6980+5C>T (n.6980+5C>T)
c.6977+5C>T (n.6977+5C>T)
c.6962+5C>T (n.6962+5C>T)
c.6935+5C>T (n.6935+5C>T)
c.6920+5C>T (n.6920+5C>T)
c.6941+5C>T (n.6941+5C>T)
c.6917+5C>T (n.6917+5C>T)
 ClinVar dbSNP gnomAD v4
9g.128632329C>ACA2691941342SPTAN1c.6995+6C>A (n.6995+6C>A)
c.7022+6C>A (n.7022+6C>A)
c.7046+6C>A (n.7046+6C>A)
c.6485+6C>A (n.6485+6C>A)
c.4564+6C>A
c.2901+6C>A
c.6959+6C>A (n.6959+6C>A)
n.683+6C>A
c.6884+6C>A (n.6884+6C>A)
c.6944+6C>A (n.6944+6C>A)
n.913+6C>A
n.716+6C>A
c.6899+6C>A (n.6899+6C>A)
c.7058+6C>A (n.7058+6C>A)
c.7043+6C>A (n.7043+6C>A)
c.6998+6C>A (n.6998+6C>A)
c.6980+6C>A (n.6980+6C>A)
c.6977+6C>A (n.6977+6C>A)
c.6962+6C>A (n.6962+6C>A)
c.6935+6C>A (n.6935+6C>A)
c.6920+6C>A (n.6920+6C>A)
c.6941+6C>A (n.6941+6C>A)
c.6917+6C>A (n.6917+6C>A)
 gnomAD v4
9g.128632329C=CA1880371284SPTAN1c.6995+6C= (n.6995+6C=)
c.7022+6C= (n.7022+6C=)
c.7046+6C= (n.7046+6C=)
c.6485+6C= (n.6485+6C=)
c.4564+6C=
c.2901+6C=
c.6959+6C= (n.6959+6C=)
n.683+6C=
c.6884+6C= (n.6884+6C=)
c.6944+6C= (n.6944+6C=)
n.913+6C=
n.716+6C=
c.6899+6C= (n.6899+6C=)
c.7058+6C= (n.7058+6C=)
c.7043+6C= (n.7043+6C=)
c.6998+6C= (n.6998+6C=)
c.6980+6C= (n.6980+6C=)
c.6977+6C= (n.6977+6C=)
c.6962+6C= (n.6962+6C=)
c.6935+6C= (n.6935+6C=)
c.6920+6C= (n.6920+6C=)
c.6941+6C= (n.6941+6C=)
c.6917+6C= (n.6917+6C=)
9g.128632329C>TCA5265932SPTAN1c.6995+6C>T (n.6995+6C>T)
c.7022+6C>T (n.7022+6C>T)
c.7046+6C>T (n.7046+6C>T)
c.6485+6C>T (n.6485+6C>T)
c.4564+6C>T
c.2901+6C>T
c.6959+6C>T (n.6959+6C>T)
n.683+6C>T
c.6884+6C>T (n.6884+6C>T)
c.6944+6C>T (n.6944+6C>T)
n.913+6C>T
n.716+6C>T
c.6899+6C>T (n.6899+6C>T)
c.7058+6C>T (n.7058+6C>T)
c.7043+6C>T (n.7043+6C>T)
c.6998+6C>T (n.6998+6C>T)
c.6980+6C>T (n.6980+6C>T)
c.6977+6C>T (n.6977+6C>T)
c.6962+6C>T (n.6962+6C>T)
c.6935+6C>T (n.6935+6C>T)
c.6920+6C>T (n.6920+6C>T)
c.6941+6C>T (n.6941+6C>T)
c.6917+6C>T (n.6917+6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632330G>ACA5265933SPTAN1c.6995+7G>A (n.6995+7G>A)
c.7022+7G>A (n.7022+7G>A)
c.7046+7G>A (n.7046+7G>A)
c.6485+7G>A (n.6485+7G>A)
c.4564+7G>A
c.2901+7G>A
c.6959+7G>A (n.6959+7G>A)
n.683+7G>A
c.6884+7G>A (n.6884+7G>A)
c.6944+7G>A (n.6944+7G>A)
n.913+7G>A
n.716+7G>A
c.6899+7G>A (n.6899+7G>A)
c.7058+7G>A (n.7058+7G>A)
c.7043+7G>A (n.7043+7G>A)
c.6998+7G>A (n.6998+7G>A)
c.6980+7G>A (n.6980+7G>A)
c.6977+7G>A (n.6977+7G>A)
c.6962+7G>A (n.6962+7G>A)
c.6935+7G>A (n.6935+7G>A)
c.6920+7G>A (n.6920+7G>A)
c.6941+7G>A (n.6941+7G>A)
c.6917+7G>A (n.6917+7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632330G=CA1880371285SPTAN1c.6995+7G= (n.6995+7G=)
c.7022+7G= (n.7022+7G=)
c.7046+7G= (n.7046+7G=)
c.6485+7G= (n.6485+7G=)
c.4564+7G=
c.2901+7G=
c.6959+7G= (n.6959+7G=)
n.683+7G=
c.6884+7G= (n.6884+7G=)
c.6944+7G= (n.6944+7G=)
n.913+7G=
n.716+7G=
c.6899+7G= (n.6899+7G=)
c.7058+7G= (n.7058+7G=)
c.7043+7G= (n.7043+7G=)
c.6998+7G= (n.6998+7G=)
c.6980+7G= (n.6980+7G=)
c.6977+7G= (n.6977+7G=)
c.6962+7G= (n.6962+7G=)
c.6935+7G= (n.6935+7G=)
c.6920+7G= (n.6920+7G=)
c.6941+7G= (n.6941+7G=)
c.6917+7G= (n.6917+7G=)
9g.128632330G>TCA915947579SPTAN1c.6995+7G>T (n.6995+7G>T)
c.7022+7G>T (n.7022+7G>T)
c.7046+7G>T (n.7046+7G>T)
c.6485+7G>T (n.6485+7G>T)
c.4564+7G>T
c.2901+7G>T
c.6959+7G>T (n.6959+7G>T)
n.683+7G>T
c.6884+7G>T (n.6884+7G>T)
c.6944+7G>T (n.6944+7G>T)
n.913+7G>T
n.716+7G>T
c.6899+7G>T (n.6899+7G>T)
c.7058+7G>T (n.7058+7G>T)
c.7043+7G>T (n.7043+7G>T)
c.6998+7G>T (n.6998+7G>T)
c.6980+7G>T (n.6980+7G>T)
c.6977+7G>T (n.6977+7G>T)
c.6962+7G>T (n.6962+7G>T)
c.6935+7G>T (n.6935+7G>T)
c.6920+7G>T (n.6920+7G>T)
c.6941+7G>T (n.6941+7G>T)
c.6917+7G>T (n.6917+7G>T)
 ClinVar dbSNP
9g.128632332delCA2579470530SPTAN1c.6995+9del (n.6995+9del)
c.7022+9del (n.7022+9del)
c.7046+9del (n.7046+9del)
c.6485+9del (n.6485+9del)
c.4564+9del
c.2901+9del
c.6959+9del (n.6959+9del)
n.683+9del
c.6884+9del (n.6884+9del)
c.6944+9del (n.6944+9del)
n.913+9del
n.716+9del
c.6899+9del (n.6899+9del)
c.7058+9del (n.7058+9del)
c.7043+9del (n.7043+9del)
c.6998+9del (n.6998+9del)
c.6980+9del (n.6980+9del)
c.6977+9del (n.6977+9del)
c.6962+9del (n.6962+9del)
c.6935+9del (n.6935+9del)
c.6920+9del (n.6920+9del)
c.6941+9del (n.6941+9del)
c.6917+9del (n.6917+9del)
9g.128632331G>ACA2580079756SPTAN1c.6995+8G>A (n.6995+8G>A)
c.7022+8G>A (n.7022+8G>A)
c.7046+8G>A (n.7046+8G>A)
c.6485+8G>A (n.6485+8G>A)
c.4564+8G>A
c.2901+8G>A
c.6959+8G>A (n.6959+8G>A)
n.683+8G>A
c.6884+8G>A (n.6884+8G>A)
c.6944+8G>A (n.6944+8G>A)
n.913+8G>A
n.716+8G>A
c.6899+8G>A (n.6899+8G>A)
c.7058+8G>A (n.7058+8G>A)
c.7043+8G>A (n.7043+8G>A)
c.6998+8G>A (n.6998+8G>A)
c.6980+8G>A (n.6980+8G>A)
c.6977+8G>A (n.6977+8G>A)
c.6962+8G>A (n.6962+8G>A)
c.6935+8G>A (n.6935+8G>A)
c.6920+8G>A (n.6920+8G>A)
c.6941+8G>A (n.6941+8G>A)
c.6917+8G>A (n.6917+8G>A)
 ClinVar gnomAD v4
9g.128632331G>CCA1880371287SPTAN1c.6995+8G>C (n.6995+8G>C)
c.7022+8G>C (n.7022+8G>C)
c.7046+8G>C (n.7046+8G>C)
c.6485+8G>C (n.6485+8G>C)
c.4564+8G>C
c.2901+8G>C
c.6959+8G>C (n.6959+8G>C)
n.683+8G>C
c.6884+8G>C (n.6884+8G>C)
c.6944+8G>C (n.6944+8G>C)
n.913+8G>C
n.716+8G>C
c.6899+8G>C (n.6899+8G>C)
c.7058+8G>C (n.7058+8G>C)
c.7043+8G>C (n.7043+8G>C)
c.6998+8G>C (n.6998+8G>C)
c.6980+8G>C (n.6980+8G>C)
c.6977+8G>C (n.6977+8G>C)
c.6962+8G>C (n.6962+8G>C)
c.6935+8G>C (n.6935+8G>C)
c.6920+8G>C (n.6920+8G>C)
c.6941+8G>C (n.6941+8G>C)
c.6917+8G>C (n.6917+8G>C)
 dbSNP
9g.128632331G=CA1880371286SPTAN1c.6995+8G= (n.6995+8G=)
c.7022+8G= (n.7022+8G=)
c.7046+8G= (n.7046+8G=)
c.6485+8G= (n.6485+8G=)
c.4564+8G=
c.2901+8G=
c.6959+8G= (n.6959+8G=)
n.683+8G=
c.6884+8G= (n.6884+8G=)
c.6944+8G= (n.6944+8G=)
n.913+8G=
n.716+8G=
c.6899+8G= (n.6899+8G=)
c.7058+8G= (n.7058+8G=)
c.7043+8G= (n.7043+8G=)
c.6998+8G= (n.6998+8G=)
c.6980+8G= (n.6980+8G=)
c.6977+8G= (n.6977+8G=)
c.6962+8G= (n.6962+8G=)
c.6935+8G= (n.6935+8G=)
c.6920+8G= (n.6920+8G=)
c.6941+8G= (n.6941+8G=)
c.6917+8G= (n.6917+8G=)
9g.128632332G>ACA590941601SPTAN1c.6995+9G>A (n.6995+9G>A)
c.7022+9G>A (n.7022+9G>A)
c.7046+9G>A (n.7046+9G>A)
c.6485+9G>A (n.6485+9G>A)
c.4564+9G>A
c.2901+9G>A
c.6959+9G>A (n.6959+9G>A)
n.683+9G>A
c.6884+9G>A (n.6884+9G>A)
c.6944+9G>A (n.6944+9G>A)
n.913+9G>A
n.716+9G>A
c.6899+9G>A (n.6899+9G>A)
c.7058+9G>A (n.7058+9G>A)
c.7043+9G>A (n.7043+9G>A)
c.6998+9G>A (n.6998+9G>A)
c.6980+9G>A (n.6980+9G>A)
c.6977+9G>A (n.6977+9G>A)
c.6962+9G>A (n.6962+9G>A)
c.6935+9G>A (n.6935+9G>A)
c.6920+9G>A (n.6920+9G>A)
c.6941+9G>A (n.6941+9G>A)
c.6917+9G>A (n.6917+9G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632332G=CA1880371288SPTAN1c.6995+9G= (n.6995+9G=)
c.7022+9G= (n.7022+9G=)
c.7046+9G= (n.7046+9G=)
c.6485+9G= (n.6485+9G=)
c.4564+9G=
c.2901+9G=
c.6959+9G= (n.6959+9G=)
n.683+9G=
c.6884+9G= (n.6884+9G=)
c.6944+9G= (n.6944+9G=)
n.913+9G=
n.716+9G=
c.6899+9G= (n.6899+9G=)
c.7058+9G= (n.7058+9G=)
c.7043+9G= (n.7043+9G=)
c.6998+9G= (n.6998+9G=)
c.6980+9G= (n.6980+9G=)
c.6977+9G= (n.6977+9G=)
c.6962+9G= (n.6962+9G=)
c.6935+9G= (n.6935+9G=)
c.6920+9G= (n.6920+9G=)
c.6941+9G= (n.6941+9G=)
c.6917+9G= (n.6917+9G=)
9g.128632333A>CCA2579470531SPTAN1c.6995+10A>C (n.6995+10A>C)
c.7022+10A>C (n.7022+10A>C)
c.7046+10A>C (n.7046+10A>C)
c.6485+10A>C (n.6485+10A>C)
c.4564+10A>C
c.2901+10A>C
c.6959+10A>C (n.6959+10A>C)
n.683+10A>C
c.6884+10A>C (n.6884+10A>C)
c.6944+10A>C (n.6944+10A>C)
n.913+10A>C
n.716+10A>C
c.6899+10A>C (n.6899+10A>C)
c.7058+10A>C (n.7058+10A>C)
c.7043+10A>C (n.7043+10A>C)
c.6998+10A>C (n.6998+10A>C)
c.6980+10A>C (n.6980+10A>C)
c.6977+10A>C (n.6977+10A>C)
c.6962+10A>C (n.6962+10A>C)
c.6935+10A>C (n.6935+10A>C)
c.6920+10A>C (n.6920+10A>C)
c.6941+10A>C (n.6941+10A>C)
c.6917+10A>C (n.6917+10A>C)
9g.128632334G>ACA2573143912SPTAN1c.6995+11G>A (n.6995+11G>A)
c.7022+11G>A (n.7022+11G>A)
c.7046+11G>A (n.7046+11G>A)
c.6485+11G>A (n.6485+11G>A)
c.4564+11G>A
c.2901+11G>A
c.6959+11G>A (n.6959+11G>A)
n.683+11G>A
c.6884+11G>A (n.6884+11G>A)
c.6944+11G>A (n.6944+11G>A)
n.913+11G>A
n.716+11G>A
c.6899+11G>A (n.6899+11G>A)
c.7058+11G>A (n.7058+11G>A)
c.7043+11G>A (n.7043+11G>A)
c.6998+11G>A (n.6998+11G>A)
c.6980+11G>A (n.6980+11G>A)
c.6977+11G>A (n.6977+11G>A)
c.6962+11G>A (n.6962+11G>A)
c.6935+11G>A (n.6935+11G>A)
c.6920+11G>A (n.6920+11G>A)
c.6941+11G>A (n.6941+11G>A)
c.6917+11G>A (n.6917+11G>A)
 ClinVar dbSNP
9g.128632335G>ACA2580079757SPTAN1c.6995+12G>A (n.6995+12G>A)
c.7022+12G>A (n.7022+12G>A)
c.7046+12G>A (n.7046+12G>A)
c.6485+12G>A (n.6485+12G>A)
c.4564+12G>A
c.2901+12G>A
c.6959+12G>A (n.6959+12G>A)
n.683+12G>A
c.6884+12G>A (n.6884+12G>A)
c.6944+12G>A (n.6944+12G>A)
n.913+12G>A
n.716+12G>A
c.6899+12G>A (n.6899+12G>A)
c.7058+12G>A (n.7058+12G>A)
c.7043+12G>A (n.7043+12G>A)
c.6998+12G>A (n.6998+12G>A)
c.6980+12G>A (n.6980+12G>A)
c.6977+12G>A (n.6977+12G>A)
c.6962+12G>A (n.6962+12G>A)
c.6935+12G>A (n.6935+12G>A)
c.6920+12G>A (n.6920+12G>A)
c.6941+12G>A (n.6941+12G>A)
c.6917+12G>A (n.6917+12G>A)
 ClinVar gnomAD v4
9g.128632336G=CA1880371289SPTAN1c.6995+13G= (n.6995+13G=)
c.7022+13G= (n.7022+13G=)
c.7046+13G= (n.7046+13G=)
c.6485+13G= (n.6485+13G=)
c.4564+13G=
c.2901+13G=
c.6959+13G= (n.6959+13G=)
n.683+13G=
c.6884+13G= (n.6884+13G=)
c.6944+13G= (n.6944+13G=)
n.913+13G=
n.716+13G=
c.6899+13G= (n.6899+13G=)
c.7058+13G= (n.7058+13G=)
c.7043+13G= (n.7043+13G=)
c.6998+13G= (n.6998+13G=)
c.6980+13G= (n.6980+13G=)
c.6977+13G= (n.6977+13G=)
c.6962+13G= (n.6962+13G=)
c.6935+13G= (n.6935+13G=)
c.6920+13G= (n.6920+13G=)
c.6941+13G= (n.6941+13G=)
c.6917+13G= (n.6917+13G=)
9g.128632336G>TCA590941602SPTAN1c.6995+13G>T (n.6995+13G>T)
c.7022+13G>T (n.7022+13G>T)
c.7046+13G>T (n.7046+13G>T)
c.6485+13G>T (n.6485+13G>T)
c.4564+13G>T
c.2901+13G>T
c.6959+13G>T (n.6959+13G>T)
n.683+13G>T
c.6884+13G>T (n.6884+13G>T)
c.6944+13G>T (n.6944+13G>T)
n.913+13G>T
n.716+13G>T
c.6899+13G>T (n.6899+13G>T)
c.7058+13G>T (n.7058+13G>T)
c.7043+13G>T (n.7043+13G>T)
c.6998+13G>T (n.6998+13G>T)
c.6980+13G>T (n.6980+13G>T)
c.6977+13G>T (n.6977+13G>T)
c.6962+13G>T (n.6962+13G>T)
c.6935+13G>T (n.6935+13G>T)
c.6920+13G>T (n.6920+13G>T)
c.6941+13G>T (n.6941+13G>T)
c.6917+13G>T (n.6917+13G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632337C>TCA2562659477SPTAN1c.6995+14C>T (n.6995+14C>T)
c.7022+14C>T (n.7022+14C>T)
c.7046+14C>T (n.7046+14C>T)
c.6485+14C>T (n.6485+14C>T)
c.4564+14C>T
c.2901+14C>T
c.6959+14C>T (n.6959+14C>T)
n.683+14C>T
c.6884+14C>T (n.6884+14C>T)
c.6944+14C>T (n.6944+14C>T)
n.913+14C>T
n.716+14C>T
c.6899+14C>T (n.6899+14C>T)
c.7058+14C>T (n.7058+14C>T)
c.7043+14C>T (n.7043+14C>T)
c.6998+14C>T (n.6998+14C>T)
c.6980+14C>T (n.6980+14C>T)
c.6977+14C>T (n.6977+14C>T)
c.6962+14C>T (n.6962+14C>T)
c.6935+14C>T (n.6935+14C>T)
c.6920+14C>T (n.6920+14C>T)
c.6941+14C>T (n.6941+14C>T)
c.6917+14C>T (n.6917+14C>T)
9g.128632338T>CCA5265934SPTAN1c.6995+15T>C (n.6995+15T>C)
c.7022+15T>C (n.7022+15T>C)
c.7046+15T>C (n.7046+15T>C)
c.6485+15T>C (n.6485+15T>C)
c.4564+15T>C
c.2901+15T>C
c.6959+15T>C (n.6959+15T>C)
n.683+15T>C
c.6884+15T>C (n.6884+15T>C)
c.6944+15T>C (n.6944+15T>C)
n.913+15T>C
n.716+15T>C
c.6899+15T>C (n.6899+15T>C)
c.7058+15T>C (n.7058+15T>C)
c.7043+15T>C (n.7043+15T>C)
c.6998+15T>C (n.6998+15T>C)
c.6980+15T>C (n.6980+15T>C)
c.6977+15T>C (n.6977+15T>C)
c.6962+15T>C (n.6962+15T>C)
c.6935+15T>C (n.6935+15T>C)
c.6920+15T>C (n.6920+15T>C)
c.6941+15T>C (n.6941+15T>C)
c.6917+15T>C (n.6917+15T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632338T=CA1880371290SPTAN1c.6995+15T= (n.6995+15T=)
c.7022+15T= (n.7022+15T=)
c.7046+15T= (n.7046+15T=)
c.6485+15T= (n.6485+15T=)
c.4564+15T=
c.2901+15T=
c.6959+15T= (n.6959+15T=)
n.683+15T=
c.6884+15T= (n.6884+15T=)
c.6944+15T= (n.6944+15T=)
n.913+15T=
n.716+15T=
c.6899+15T= (n.6899+15T=)
c.7058+15T= (n.7058+15T=)
c.7043+15T= (n.7043+15T=)
c.6998+15T= (n.6998+15T=)
c.6980+15T= (n.6980+15T=)
c.6977+15T= (n.6977+15T=)
c.6962+15T= (n.6962+15T=)
c.6935+15T= (n.6935+15T=)
c.6920+15T= (n.6920+15T=)
c.6941+15T= (n.6941+15T=)
c.6917+15T= (n.6917+15T=)
9g.128632339G>ACA653588779SPTAN1c.6995+16G>A (n.6995+16G>A)
c.7022+16G>A (n.7022+16G>A)
c.7046+16G>A (n.7046+16G>A)
c.6485+16G>A (n.6485+16G>A)
c.4564+16G>A
c.2901+16G>A
c.6959+16G>A (n.6959+16G>A)
n.683+16G>A
c.6884+16G>A (n.6884+16G>A)
c.6944+16G>A (n.6944+16G>A)
n.913+16G>A
n.716+16G>A
c.6899+16G>A (n.6899+16G>A)
c.7058+16G>A (n.7058+16G>A)
c.7043+16G>A (n.7043+16G>A)
c.6998+16G>A (n.6998+16G>A)
c.6980+16G>A (n.6980+16G>A)
c.6977+16G>A (n.6977+16G>A)
c.6962+16G>A (n.6962+16G>A)
c.6935+16G>A (n.6935+16G>A)
c.6920+16G>A (n.6920+16G>A)
c.6941+16G>A (n.6941+16G>A)
c.6917+16G>A (n.6917+16G>A)
 ClinVar COSMIC
9g.128632339dupCA2691941343SPTAN1c.6995+16dup (n.6995+16dup)
c.7022+16dup (n.7022+16dup)
c.7046+16dup (n.7046+16dup)
c.6485+16dup (n.6485+16dup)
c.4564+16dup
c.2901+16dup
c.6959+16dup (n.6959+16dup)
n.683+16dup
c.6884+16dup (n.6884+16dup)
c.6944+16dup (n.6944+16dup)
n.913+16dup
n.716+16dup
c.6899+16dup (n.6899+16dup)
c.7058+16dup (n.7058+16dup)
c.7043+16dup (n.7043+16dup)
c.6998+16dup (n.6998+16dup)
c.6980+16dup (n.6980+16dup)
c.6977+16dup (n.6977+16dup)
c.6962+16dup (n.6962+16dup)
c.6935+16dup (n.6935+16dup)
c.6920+16dup (n.6920+16dup)
c.6941+16dup (n.6941+16dup)
c.6917+16dup (n.6917+16dup)
 gnomAD v4
9g.128632340T>CCA590941603SPTAN1c.6995+17T>C (n.6995+17T>C)
c.7022+17T>C (n.7022+17T>C)
c.7046+17T>C (n.7046+17T>C)
c.6485+17T>C (n.6485+17T>C)
c.4564+17T>C
c.2901+17T>C
c.6959+17T>C (n.6959+17T>C)
n.683+17T>C
c.6884+17T>C (n.6884+17T>C)
c.6944+17T>C (n.6944+17T>C)
n.913+17T>C
n.716+17T>C
c.6899+17T>C (n.6899+17T>C)
c.7058+17T>C (n.7058+17T>C)
c.7043+17T>C (n.7043+17T>C)
c.6998+17T>C (n.6998+17T>C)
c.6980+17T>C (n.6980+17T>C)
c.6977+17T>C (n.6977+17T>C)
c.6962+17T>C (n.6962+17T>C)
c.6935+17T>C (n.6935+17T>C)
c.6920+17T>C (n.6920+17T>C)
c.6941+17T>C (n.6941+17T>C)
c.6917+17T>C (n.6917+17T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.128632340T=CA1880371291SPTAN1c.6995+17T= (n.6995+17T=)
c.7022+17T= (n.7022+17T=)
c.7046+17T= (n.7046+17T=)
c.6485+17T= (n.6485+17T=)
c.4564+17T=
c.2901+17T=
c.6959+17T= (n.6959+17T=)
n.683+17T=
c.6884+17T= (n.6884+17T=)
c.6944+17T= (n.6944+17T=)
n.913+17T=
n.716+17T=
c.6899+17T= (n.6899+17T=)
c.7058+17T= (n.7058+17T=)
c.7043+17T= (n.7043+17T=)
c.6998+17T= (n.6998+17T=)
c.6980+17T= (n.6980+17T=)
c.6977+17T= (n.6977+17T=)
c.6962+17T= (n.6962+17T=)
c.6935+17T= (n.6935+17T=)
c.6920+17T= (n.6920+17T=)
c.6941+17T= (n.6941+17T=)
c.6917+17T= (n.6917+17T=)
9g.128632341G>ACA2691941344SPTAN1c.6995+18G>A (n.6995+18G>A)
c.7022+18G>A (n.7022+18G>A)
c.7046+18G>A (n.7046+18G>A)
c.6485+18G>A (n.6485+18G>A)
c.4564+18G>A
c.2901+18G>A
c.6959+18G>A (n.6959+18G>A)
n.683+18G>A
c.6884+18G>A (n.6884+18G>A)
c.6944+18G>A (n.6944+18G>A)
n.913+18G>A
n.716+18G>A
c.6899+18G>A (n.6899+18G>A)
c.7058+18G>A (n.7058+18G>A)
c.7043+18G>A (n.7043+18G>A)
c.6998+18G>A (n.6998+18G>A)
c.6980+18G>A (n.6980+18G>A)
c.6977+18G>A (n.6977+18G>A)
c.6962+18G>A (n.6962+18G>A)
c.6935+18G>A (n.6935+18G>A)
c.6920+18G>A (n.6920+18G>A)
c.6941+18G>A (n.6941+18G>A)
c.6917+18G>A (n.6917+18G>A)
 gnomAD v4
9g.128632341G>CCA1880371293SPTAN1c.6995+18G>C (n.6995+18G>C)
c.7022+18G>C (n.7022+18G>C)
c.7046+18G>C (n.7046+18G>C)
c.6485+18G>C (n.6485+18G>C)
c.4564+18G>C
c.2901+18G>C
c.6959+18G>C (n.6959+18G>C)
n.683+18G>C
c.6884+18G>C (n.6884+18G>C)
c.6944+18G>C (n.6944+18G>C)
n.913+18G>C
n.716+18G>C
c.6899+18G>C (n.6899+18G>C)
c.7058+18G>C (n.7058+18G>C)
c.7043+18G>C (n.7043+18G>C)
c.6998+18G>C (n.6998+18G>C)
c.6980+18G>C (n.6980+18G>C)
c.6977+18G>C (n.6977+18G>C)
c.6962+18G>C (n.6962+18G>C)
c.6935+18G>C (n.6935+18G>C)
c.6920+18G>C (n.6920+18G>C)
c.6941+18G>C (n.6941+18G>C)
c.6917+18G>C (n.6917+18G>C)
 ClinVar dbSNP
9g.128632341G=CA1880371292SPTAN1c.6995+18G= (n.6995+18G=)
c.7022+18G= (n.7022+18G=)
c.7046+18G= (n.7046+18G=)
c.6485+18G= (n.6485+18G=)
c.4564+18G=
c.2901+18G=
c.6959+18G= (n.6959+18G=)
n.683+18G=
c.6884+18G= (n.6884+18G=)
c.6944+18G= (n.6944+18G=)
n.913+18G=
n.716+18G=
c.6899+18G= (n.6899+18G=)
c.7058+18G= (n.7058+18G=)
c.7043+18G= (n.7043+18G=)
c.6998+18G= (n.6998+18G=)
c.6980+18G= (n.6980+18G=)
c.6977+18G= (n.6977+18G=)
c.6962+18G= (n.6962+18G=)
c.6935+18G= (n.6935+18G=)
c.6920+18G= (n.6920+18G=)
c.6941+18G= (n.6941+18G=)
c.6917+18G= (n.6917+18G=)
9g.128632342_128632345dupCA590941604SPTAN1c.6995+19_6995+22dup (n.6995+19_6995+22dup)
c.7022+19_7022+22dup (n.7022+19_7022+22dup)
c.7046+19_7046+22dup (n.7046+19_7046+22dup)
c.6485+19_6485+22dup (n.6485+19_6485+22dup)
c.4564+19_4564+22dup
c.2901+19_2901+22dup
c.6959+19_6959+22dup (n.6959+19_6959+22dup)
n.683+19_683+22dup
c.6884+19_6884+22dup (n.6884+19_6884+22dup)
c.6944+19_6944+22dup (n.6944+19_6944+22dup)
n.913+19_913+22dup
n.716+19_716+22dup
c.6899+19_6899+22dup (n.6899+19_6899+22dup)
c.7058+19_7058+22dup (n.7058+19_7058+22dup)
c.7043+19_7043+22dup (n.7043+19_7043+22dup)
c.6998+19_6998+22dup (n.6998+19_6998+22dup)
c.6980+19_6980+22dup (n.6980+19_6980+22dup)
c.6977+19_6977+22dup (n.6977+19_6977+22dup)
c.6962+19_6962+22dup (n.6962+19_6962+22dup)
c.6935+19_6935+22dup (n.6935+19_6935+22dup)
c.6920+19_6920+22dup (n.6920+19_6920+22dup)
c.6941+19_6941+22dup (n.6941+19_6941+22dup)
c.6917+19_6917+22dup (n.6917+19_6917+22dup)
 dbSNP gnomAD v2 gnomAD v4
9g.128632344C=CA1880371294SPTAN1c.6995+21C= (n.6995+21C=)
c.7022+21C= (n.7022+21C=)
c.7046+21C= (n.7046+21C=)
c.6485+21C= (n.6485+21C=)
c.4564+21C=
c.2901+21C=
c.6959+21C= (n.6959+21C=)
n.683+21C=
c.6884+21C= (n.6884+21C=)
c.6944+21C= (n.6944+21C=)
n.913+21C=
n.716+21C=
c.6899+21C= (n.6899+21C=)
c.7058+21C= (n.7058+21C=)
c.7043+21C= (n.7043+21C=)
c.6998+21C= (n.6998+21C=)
c.6980+21C= (n.6980+21C=)
c.6977+21C= (n.6977+21C=)
c.6962+21C= (n.6962+21C=)
c.6935+21C= (n.6935+21C=)
c.6920+21C= (n.6920+21C=)
c.6941+21C= (n.6941+21C=)
c.6917+21C= (n.6917+21C=)
9g.128632344C>TCA5265935SPTAN1c.6995+21C>T (n.6995+21C>T)
c.7022+21C>T (n.7022+21C>T)
c.7046+21C>T (n.7046+21C>T)
c.6485+21C>T (n.6485+21C>T)
c.4564+21C>T
c.2901+21C>T
c.6959+21C>T (n.6959+21C>T)
n.683+21C>T
c.6884+21C>T (n.6884+21C>T)
c.6944+21C>T (n.6944+21C>T)
n.913+21C>T
n.716+21C>T
c.6899+21C>T (n.6899+21C>T)
c.7058+21C>T (n.7058+21C>T)
c.7043+21C>T (n.7043+21C>T)
c.6998+21C>T (n.6998+21C>T)
c.6980+21C>T (n.6980+21C>T)
c.6977+21C>T (n.6977+21C>T)
c.6962+21C>T (n.6962+21C>T)
c.6935+21C>T (n.6935+21C>T)
c.6920+21C>T (n.6920+21C>T)
c.6941+21C>T (n.6941+21C>T)
c.6917+21C>T (n.6917+21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632344_128632376delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGACA1880371295SPTAN1c.6995+21_6995+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6995+21_6995+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.7022+21_7022+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.7022+21_7022+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.7046+21_7046+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.7046+21_7046+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.6485+21_6485+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6485+21_6485+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.4564+21_4564+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA
c.2901+21_2901+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA
c.6959+21_6959+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6959+21_6959+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
n.683+21_683+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA
c.6884+21_6884+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6884+21_6884+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.6944+21_6944+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6944+21_6944+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
n.913+21_913+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA
n.716+21_716+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA
c.6899+21_6899+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6899+21_6899+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.7058+21_7058+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.7058+21_7058+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.7043+21_7043+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.7043+21_7043+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.6998+21_6998+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6998+21_6998+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.6980+21_6980+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6980+21_6980+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.6977+21_6977+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6977+21_6977+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.6962+21_6962+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6962+21_6962+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.6935+21_6935+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6935+21_6935+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.6920+21_6920+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6920+21_6920+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.6941+21_6941+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6941+21_6941+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
c.6917+21_6917+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA (n.6917+21_6917+53delinsCCAGGCTCAGCCCAGAGCAGGGGGAGGAAAAGA)
9g.128632347_128632378delCA1129343403SPTAN1c.6995+24_6996-53del (n.6995+24_6996-53del)
c.7022+24_7023-53del (n.7022+24_7023-53del)
c.7046+24_7047-53del (n.7046+24_7047-53del)
c.6485+24_6486-53del (n.6485+24_6486-53del)
c.4564+24_4565-53del
c.2901+24_2902-53del
c.6959+24_6960-53del (n.6959+24_6960-53del)
n.683+24_684-53del
c.6884+24_6885-53del (n.6884+24_6885-53del)
c.6944+24_6945-53del (n.6944+24_6945-53del)
n.913+24_914-53del
n.716+24_717-53del
c.6899+24_6900-53del (n.6899+24_6900-53del)
c.7058+24_7059-53del (n.7058+24_7059-53del)
c.7043+24_7044-53del (n.7043+24_7044-53del)
c.6998+24_6999-53del (n.6998+24_6999-53del)
c.6980+24_6981-53del (n.6980+24_6981-53del)
c.6977+24_6978-53del (n.6977+24_6978-53del)
c.6962+24_6963-53del (n.6962+24_6963-53del)
c.6935+24_6936-53del (n.6935+24_6936-53del)
c.6920+24_6921-53del (n.6920+24_6921-53del)
c.6941+24_6942-53del (n.6941+24_6942-53del)
c.6917+24_6918-53del (n.6917+24_6918-53del)
 dbSNP gnomAD v3 gnomAD v4
9g.128632346A=CA1880371296SPTAN1c.6995+23A= (n.6995+23A=)
c.7022+23A= (n.7022+23A=)
c.7046+23A= (n.7046+23A=)
c.6485+23A= (n.6485+23A=)
c.4564+23A=
c.2901+23A=
c.6959+23A= (n.6959+23A=)
n.683+23A=
c.6884+23A= (n.6884+23A=)
c.6944+23A= (n.6944+23A=)
n.913+23A=
n.716+23A=
c.6899+23A= (n.6899+23A=)
c.7058+23A= (n.7058+23A=)
c.7043+23A= (n.7043+23A=)
c.6998+23A= (n.6998+23A=)
c.6980+23A= (n.6980+23A=)
c.6977+23A= (n.6977+23A=)
c.6962+23A= (n.6962+23A=)
c.6935+23A= (n.6935+23A=)
c.6920+23A= (n.6920+23A=)
c.6941+23A= (n.6941+23A=)
c.6917+23A= (n.6917+23A=)
9g.128632346A>GCA5265936SPTAN1c.6995+23A>G (n.6995+23A>G)
c.7022+23A>G (n.7022+23A>G)
c.7046+23A>G (n.7046+23A>G)
c.6485+23A>G (n.6485+23A>G)
c.4564+23A>G
c.2901+23A>G
c.6959+23A>G (n.6959+23A>G)
n.683+23A>G
c.6884+23A>G (n.6884+23A>G)
c.6944+23A>G (n.6944+23A>G)
n.913+23A>G
n.716+23A>G
c.6899+23A>G (n.6899+23A>G)
c.7058+23A>G (n.7058+23A>G)
c.7043+23A>G (n.7043+23A>G)
c.6998+23A>G (n.6998+23A>G)
c.6980+23A>G (n.6980+23A>G)
c.6977+23A>G (n.6977+23A>G)
c.6962+23A>G (n.6962+23A>G)
c.6935+23A>G (n.6935+23A>G)
c.6920+23A>G (n.6920+23A>G)
c.6941+23A>G (n.6941+23A>G)
c.6917+23A>G (n.6917+23A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632348G>ACA2691941345SPTAN1c.6995+25G>A (n.6995+25G>A)
c.7022+25G>A (n.7022+25G>A)
c.7046+25G>A (n.7046+25G>A)
c.6485+25G>A (n.6485+25G>A)
c.4564+25G>A
c.2901+25G>A
c.6959+25G>A (n.6959+25G>A)
n.683+25G>A
c.6884+25G>A (n.6884+25G>A)
c.6944+25G>A (n.6944+25G>A)
n.913+25G>A
n.716+25G>A
c.6899+25G>A (n.6899+25G>A)
c.7058+25G>A (n.7058+25G>A)
c.7043+25G>A (n.7043+25G>A)
c.6998+25G>A (n.6998+25G>A)
c.6980+25G>A (n.6980+25G>A)
c.6977+25G>A (n.6977+25G>A)
c.6962+25G>A (n.6962+25G>A)
c.6935+25G>A (n.6935+25G>A)
c.6920+25G>A (n.6920+25G>A)
c.6941+25G>A (n.6941+25G>A)
c.6917+25G>A (n.6917+25G>A)
 gnomAD v4
9g.128632348G>CCA2691941346SPTAN1c.6995+25G>C (n.6995+25G>C)
c.7022+25G>C (n.7022+25G>C)
c.7046+25G>C (n.7046+25G>C)
c.6485+25G>C (n.6485+25G>C)
c.4564+25G>C
c.2901+25G>C
c.6959+25G>C (n.6959+25G>C)
n.683+25G>C
c.6884+25G>C (n.6884+25G>C)
c.6944+25G>C (n.6944+25G>C)
n.913+25G>C
n.716+25G>C
c.6899+25G>C (n.6899+25G>C)
c.7058+25G>C (n.7058+25G>C)
c.7043+25G>C (n.7043+25G>C)
c.6998+25G>C (n.6998+25G>C)
c.6980+25G>C (n.6980+25G>C)
c.6977+25G>C (n.6977+25G>C)
c.6962+25G>C (n.6962+25G>C)
c.6935+25G>C (n.6935+25G>C)
c.6920+25G>C (n.6920+25G>C)
c.6941+25G>C (n.6941+25G>C)
c.6917+25G>C (n.6917+25G>C)
 gnomAD v4
9g.128632349C>ACA860272891SPTAN1c.6995+26C>A (n.6995+26C>A)
c.7022+26C>A (n.7022+26C>A)
c.7046+26C>A (n.7046+26C>A)
c.6485+26C>A (n.6485+26C>A)
c.4564+26C>A
c.2901+26C>A
c.6959+26C>A (n.6959+26C>A)
n.683+26C>A
c.6884+26C>A (n.6884+26C>A)
c.6944+26C>A (n.6944+26C>A)
n.913+26C>A
n.716+26C>A
c.6899+26C>A (n.6899+26C>A)
c.7058+26C>A (n.7058+26C>A)
c.7043+26C>A (n.7043+26C>A)
c.6998+26C>A (n.6998+26C>A)
c.6980+26C>A (n.6980+26C>A)
c.6977+26C>A (n.6977+26C>A)
c.6962+26C>A (n.6962+26C>A)
c.6935+26C>A (n.6935+26C>A)
c.6920+26C>A (n.6920+26C>A)
c.6941+26C>A (n.6941+26C>A)
c.6917+26C>A (n.6917+26C>A)
 dbSNP gnomAD v3 gnomAD v4
9g.128632349C=CA1880371297SPTAN1c.6995+26C= (n.6995+26C=)
c.7022+26C= (n.7022+26C=)
c.7046+26C= (n.7046+26C=)
c.6485+26C= (n.6485+26C=)
c.4564+26C=
c.2901+26C=
c.6959+26C= (n.6959+26C=)
n.683+26C=
c.6884+26C= (n.6884+26C=)
c.6944+26C= (n.6944+26C=)
n.913+26C=
n.716+26C=
c.6899+26C= (n.6899+26C=)
c.7058+26C= (n.7058+26C=)
c.7043+26C= (n.7043+26C=)
c.6998+26C= (n.6998+26C=)
c.6980+26C= (n.6980+26C=)
c.6977+26C= (n.6977+26C=)
c.6962+26C= (n.6962+26C=)
c.6935+26C= (n.6935+26C=)
c.6920+26C= (n.6920+26C=)
c.6941+26C= (n.6941+26C=)
c.6917+26C= (n.6917+26C=)
9g.128632349C>TCA2720477823SPTAN1c.6995+26C>T (n.6995+26C>T)
c.7022+26C>T (n.7022+26C>T)
c.7046+26C>T (n.7046+26C>T)
c.6485+26C>T (n.6485+26C>T)
c.4564+26C>T
c.2901+26C>T
c.6959+26C>T (n.6959+26C>T)
n.683+26C>T
c.6884+26C>T (n.6884+26C>T)
c.6944+26C>T (n.6944+26C>T)
n.913+26C>T
n.716+26C>T
c.6899+26C>T (n.6899+26C>T)
c.7058+26C>T (n.7058+26C>T)
c.7043+26C>T (n.7043+26C>T)
c.6998+26C>T (n.6998+26C>T)
c.6980+26C>T (n.6980+26C>T)
c.6977+26C>T (n.6977+26C>T)
c.6962+26C>T (n.6962+26C>T)
c.6935+26C>T (n.6935+26C>T)
c.6920+26C>T (n.6920+26C>T)
c.6941+26C>T (n.6941+26C>T)
c.6917+26C>T (n.6917+26C>T)
 dbSNP
9g.128632350T>GCA1880371299SPTAN1c.6995+27T>G (n.6995+27T>G)
c.7022+27T>G (n.7022+27T>G)
c.7046+27T>G (n.7046+27T>G)
c.6485+27T>G (n.6485+27T>G)
c.4564+27T>G
c.2901+27T>G
c.6959+27T>G (n.6959+27T>G)
n.683+27T>G
c.6884+27T>G (n.6884+27T>G)
c.6944+27T>G (n.6944+27T>G)
n.913+27T>G
n.716+27T>G
c.6899+27T>G (n.6899+27T>G)
c.7058+27T>G (n.7058+27T>G)
c.7043+27T>G (n.7043+27T>G)
c.6998+27T>G (n.6998+27T>G)
c.6980+27T>G (n.6980+27T>G)
c.6977+27T>G (n.6977+27T>G)
c.6962+27T>G (n.6962+27T>G)
c.6935+27T>G (n.6935+27T>G)
c.6920+27T>G (n.6920+27T>G)
c.6941+27T>G (n.6941+27T>G)
c.6917+27T>G (n.6917+27T>G)
 dbSNP
9g.128632350T=CA1880371298SPTAN1c.6995+27T= (n.6995+27T=)
c.7022+27T= (n.7022+27T=)
c.7046+27T= (n.7046+27T=)
c.6485+27T= (n.6485+27T=)
c.4564+27T=
c.2901+27T=
c.6959+27T= (n.6959+27T=)
n.683+27T=
c.6884+27T= (n.6884+27T=)
c.6944+27T= (n.6944+27T=)
n.913+27T=
n.716+27T=
c.6899+27T= (n.6899+27T=)
c.7058+27T= (n.7058+27T=)
c.7043+27T= (n.7043+27T=)
c.6998+27T= (n.6998+27T=)
c.6980+27T= (n.6980+27T=)
c.6977+27T= (n.6977+27T=)
c.6962+27T= (n.6962+27T=)
c.6935+27T= (n.6935+27T=)
c.6920+27T= (n.6920+27T=)
c.6941+27T= (n.6941+27T=)
c.6917+27T= (n.6917+27T=)
9g.128632351_128632352delCA2691941347SPTAN1c.6995+28_6995+29del (n.6995+28_6995+29del)
c.7022+28_7022+29del (n.7022+28_7022+29del)
c.7046+28_7046+29del (n.7046+28_7046+29del)
c.6485+28_6485+29del (n.6485+28_6485+29del)
c.4564+28_4564+29del
c.2901+28_2901+29del
c.6959+28_6959+29del (n.6959+28_6959+29del)
n.683+28_683+29del
c.6884+28_6884+29del (n.6884+28_6884+29del)
c.6944+28_6944+29del (n.6944+28_6944+29del)
n.913+28_913+29del
n.716+28_716+29del
c.6899+28_6899+29del (n.6899+28_6899+29del)
c.7058+28_7058+29del (n.7058+28_7058+29del)
c.7043+28_7043+29del (n.7043+28_7043+29del)
c.6998+28_6998+29del (n.6998+28_6998+29del)
c.6980+28_6980+29del (n.6980+28_6980+29del)
c.6977+28_6977+29del (n.6977+28_6977+29del)
c.6962+28_6962+29del (n.6962+28_6962+29del)
c.6935+28_6935+29del (n.6935+28_6935+29del)
c.6920+28_6920+29del (n.6920+28_6920+29del)
c.6941+28_6941+29del (n.6941+28_6941+29del)
c.6917+28_6917+29del (n.6917+28_6917+29del)
 gnomAD v4
9g.128632351_128632352dupCA5265937SPTAN1c.6995+28_6995+29dup (n.6995+28_6995+29dup)
c.7022+28_7022+29dup (n.7022+28_7022+29dup)
c.7046+28_7046+29dup (n.7046+28_7046+29dup)
c.6485+28_6485+29dup (n.6485+28_6485+29dup)
c.4564+28_4564+29dup
c.2901+28_2901+29dup
c.6959+28_6959+29dup (n.6959+28_6959+29dup)
n.683+28_683+29dup
c.6884+28_6884+29dup (n.6884+28_6884+29dup)
c.6944+28_6944+29dup (n.6944+28_6944+29dup)
n.913+28_913+29dup
n.716+28_716+29dup
c.6899+28_6899+29dup (n.6899+28_6899+29dup)
c.7058+28_7058+29dup (n.7058+28_7058+29dup)
c.7043+28_7043+29dup (n.7043+28_7043+29dup)
c.6998+28_6998+29dup (n.6998+28_6998+29dup)
c.6980+28_6980+29dup (n.6980+28_6980+29dup)
c.6977+28_6977+29dup (n.6977+28_6977+29dup)
c.6962+28_6962+29dup (n.6962+28_6962+29dup)
c.6935+28_6935+29dup (n.6935+28_6935+29dup)
c.6920+28_6920+29dup (n.6920+28_6920+29dup)
c.6941+28_6941+29dup (n.6941+28_6941+29dup)
c.6917+28_6917+29dup (n.6917+28_6917+29dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128632353G>ACA2579470532SPTAN1c.6995+30G>A (n.6995+30G>A)
c.7022+30G>A (n.7022+30G>A)
c.7046+30G>A (n.7046+30G>A)
c.6485+30G>A (n.6485+30G>A)
c.4564+30G>A
c.2901+30G>A
c.6959+30G>A (n.6959+30G>A)
n.683+30G>A
c.6884+30G>A (n.6884+30G>A)
c.6944+30G>A (n.6944+30G>A)
n.913+30G>A
n.716+30G>A
c.6899+30G>A (n.6899+30G>A)
c.7058+30G>A (n.7058+30G>A)
c.7043+30G>A (n.7043+30G>A)
c.6998+30G>A (n.6998+30G>A)
c.6980+30G>A (n.6980+30G>A)
c.6977+30G>A (n.6977+30G>A)
c.6962+30G>A (n.6962+30G>A)
c.6935+30G>A (n.6935+30G>A)
c.6920+30G>A (n.6920+30G>A)
c.6941+30G>A (n.6941+30G>A)
c.6917+30G>A (n.6917+30G>A)
9g.128632353G=CA1880371300SPTAN1c.6995+30G= (n.6995+30G=)
c.7022+30G= (n.7022+30G=)
c.7046+30G= (n.7046+30G=)
c.6485+30G= (n.6485+30G=)
c.4564+30G=
c.2901+30G=
c.6959+30G= (n.6959+30G=)
n.683+30G=
c.6884+30G= (n.6884+30G=)
c.6944+30G= (n.6944+30G=)
n.913+30G=
n.716+30G=
c.6899+30G= (n.6899+30G=)
c.7058+30G= (n.7058+30G=)
c.7043+30G= (n.7043+30G=)
c.6998+30G= (n.6998+30G=)
c.6980+30G= (n.6980+30G=)
c.6977+30G= (n.6977+30G=)
c.6962+30G= (n.6962+30G=)
c.6935+30G= (n.6935+30G=)
c.6920+30G= (n.6920+30G=)
c.6941+30G= (n.6941+30G=)
c.6917+30G= (n.6917+30G=)
9g.128632353G>TCA2691941348SPTAN1c.6995+30G>T (n.6995+30G>T)
c.7022+30G>T (n.7022+30G>T)
c.7046+30G>T (n.7046+30G>T)
c.6485+30G>T (n.6485+30G>T)
c.4564+30G>T
c.2901+30G>T
c.6959+30G>T (n.6959+30G>T)
n.683+30G>T
c.6884+30G>T (n.6884+30G>T)
c.6944+30G>T (n.6944+30G>T)
n.913+30G>T
n.716+30G>T
c.6899+30G>T (n.6899+30G>T)
c.7058+30G>T (n.7058+30G>T)
c.7043+30G>T (n.7043+30G>T)
c.6998+30G>T (n.6998+30G>T)
c.6980+30G>T (n.6980+30G>T)
c.6977+30G>T (n.6977+30G>T)
c.6962+30G>T (n.6962+30G>T)
c.6935+30G>T (n.6935+30G>T)
c.6920+30G>T (n.6920+30G>T)
c.6941+30G>T (n.6941+30G>T)
c.6917+30G>T (n.6917+30G>T)
 gnomAD v4
9g.128632354C>ACA590941605SPTAN1c.6995+31C>A (n.6995+31C>A)
c.7022+31C>A (n.7022+31C>A)
c.7046+31C>A (n.7046+31C>A)
c.6485+31C>A (n.6485+31C>A)
c.4564+31C>A
c.2901+31C>A
c.6959+31C>A (n.6959+31C>A)
n.683+31C>A
c.6884+31C>A (n.6884+31C>A)
c.6944+31C>A (n.6944+31C>A)
n.913+31C>A
n.716+31C>A
c.6899+31C>A (n.6899+31C>A)
c.7058+31C>A (n.7058+31C>A)
c.7043+31C>A (n.7043+31C>A)
c.6998+31C>A (n.6998+31C>A)
c.6980+31C>A (n.6980+31C>A)
c.6977+31C>A (n.6977+31C>A)
c.6962+31C>A (n.6962+31C>A)
c.6935+31C>A (n.6935+31C>A)
c.6920+31C>A (n.6920+31C>A)
c.6941+31C>A (n.6941+31C>A)
c.6917+31C>A (n.6917+31C>A)
 dbSNP gnomAD v2
9g.128632354C=CA1880371301SPTAN1c.6995+31C= (n.6995+31C=)
c.7022+31C= (n.7022+31C=)
c.7046+31C= (n.7046+31C=)
c.6485+31C= (n.6485+31C=)
c.4564+31C=
c.2901+31C=
c.6959+31C= (n.6959+31C=)
n.683+31C=
c.6884+31C= (n.6884+31C=)
c.6944+31C= (n.6944+31C=)
n.913+31C=
n.716+31C=
c.6899+31C= (n.6899+31C=)
c.7058+31C= (n.7058+31C=)
c.7043+31C= (n.7043+31C=)
c.6998+31C= (n.6998+31C=)
c.6980+31C= (n.6980+31C=)
c.6977+31C= (n.6977+31C=)
c.6962+31C= (n.6962+31C=)
c.6935+31C= (n.6935+31C=)
c.6920+31C= (n.6920+31C=)
c.6941+31C= (n.6941+31C=)
c.6917+31C= (n.6917+31C=)
9g.128632354C>TCA590941606SPTAN1c.6995+31C>T (n.6995+31C>T)
c.7022+31C>T (n.7022+31C>T)
c.7046+31C>T (n.7046+31C>T)
c.6485+31C>T (n.6485+31C>T)
c.4564+31C>T
c.2901+31C>T
c.6959+31C>T (n.6959+31C>T)
n.683+31C>T
c.6884+31C>T (n.6884+31C>T)
c.6944+31C>T (n.6944+31C>T)
n.913+31C>T
n.716+31C>T
c.6899+31C>T (n.6899+31C>T)
c.7058+31C>T (n.7058+31C>T)
c.7043+31C>T (n.7043+31C>T)
c.6998+31C>T (n.6998+31C>T)
c.6980+31C>T (n.6980+31C>T)
c.6977+31C>T (n.6977+31C>T)
c.6962+31C>T (n.6962+31C>T)
c.6935+31C>T (n.6935+31C>T)
c.6920+31C>T (n.6920+31C>T)
c.6941+31C>T (n.6941+31C>T)
c.6917+31C>T (n.6917+31C>T)
 dbSNP gnomAD v2 gnomAD v4
9g.128632355_128632356insTGCTCCCCCA5265938SPTAN1c.6995+32_6995+33insTGCTCCCC (n.6995+32_6995+33insTGCTCCCC)
c.7022+32_7022+33insTGCTCCCC (n.7022+32_7022+33insTGCTCCCC)
c.7046+32_7046+33insTGCTCCCC (n.7046+32_7046+33insTGCTCCCC)
c.6485+32_6485+33insTGCTCCCC (n.6485+32_6485+33insTGCTCCCC)
c.4564+32_4564+33insTGCTCCCC
c.2901+32_2901+33insTGCTCCCC
c.6959+32_6959+33insTGCTCCCC (n.6959+32_6959+33insTGCTCCCC)
n.683+32_683+33insTGCTCCCC
c.6884+32_6884+33insTGCTCCCC (n.6884+32_6884+33insTGCTCCCC)
c.6944+32_6944+33insTGCTCCCC (n.6944+32_6944+33insTGCTCCCC)
n.913+32_913+33insTGCTCCCC
n.716+32_716+33insTGCTCCCC
c.6899+32_6899+33insTGCTCCCC (n.6899+32_6899+33insTGCTCCCC)
c.7058+32_7058+33insTGCTCCCC (n.7058+32_7058+33insTGCTCCCC)
c.7043+32_7043+33insTGCTCCCC (n.7043+32_7043+33insTGCTCCCC)
c.6998+32_6998+33insTGCTCCCC (n.6998+32_6998+33insTGCTCCCC)
c.6980+32_6980+33insTGCTCCCC (n.6980+32_6980+33insTGCTCCCC)
c.6977+32_6977+33insTGCTCCCC (n.6977+32_6977+33insTGCTCCCC)
c.6962+32_6962+33insTGCTCCCC (n.6962+32_6962+33insTGCTCCCC)
c.6935+32_6935+33insTGCTCCCC (n.6935+32_6935+33insTGCTCCCC)
c.6920+32_6920+33insTGCTCCCC (n.6920+32_6920+33insTGCTCCCC)
c.6941+32_6941+33insTGCTCCCC (n.6941+32_6941+33insTGCTCCCC)
c.6917+32_6917+33insTGCTCCCC (n.6917+32_6917+33insTGCTCCCC)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128632356C>TCA2691941349SPTAN1c.6995+33C>T (n.6995+33C>T)
c.7022+33C>T (n.7022+33C>T)
c.7046+33C>T (n.7046+33C>T)
c.6485+33C>T (n.6485+33C>T)
c.4564+33C>T
c.2901+33C>T
c.6959+33C>T (n.6959+33C>T)
n.683+33C>T
c.6884+33C>T (n.6884+33C>T)
c.6944+33C>T (n.6944+33C>T)
n.913+33C>T
n.716+33C>T
c.6899+33C>T (n.6899+33C>T)
c.7058+33C>T (n.7058+33C>T)
c.7043+33C>T (n.7043+33C>T)
c.6998+33C>T (n.6998+33C>T)
c.6980+33C>T (n.6980+33C>T)
c.6977+33C>T (n.6977+33C>T)
c.6962+33C>T (n.6962+33C>T)
c.6935+33C>T (n.6935+33C>T)
c.6920+33C>T (n.6920+33C>T)
c.6941+33C>T (n.6941+33C>T)
c.6917+33C>T (n.6917+33C>T)
 gnomAD v4
9g.128632358G>TCA2691941350SPTAN1c.6995+35G>T (n.6995+35G>T)
c.7022+35G>T (n.7022+35G>T)
c.7046+35G>T (n.7046+35G>T)
c.6485+35G>T (n.6485+35G>T)
c.4564+35G>T
c.2901+35G>T
c.6959+35G>T (n.6959+35G>T)
n.683+35G>T
c.6884+35G>T (n.6884+35G>T)
c.6944+35G>T (n.6944+35G>T)
n.913+35G>T
n.716+35G>T
c.6899+35G>T (n.6899+35G>T)
c.7058+35G>T (n.7058+35G>T)
c.7043+35G>T (n.7043+35G>T)
c.6998+35G>T (n.6998+35G>T)
c.6980+35G>T (n.6980+35G>T)
c.6977+35G>T (n.6977+35G>T)
c.6962+35G>T (n.6962+35G>T)
c.6935+35G>T (n.6935+35G>T)
c.6920+35G>T (n.6920+35G>T)
c.6941+35G>T (n.6941+35G>T)
c.6917+35G>T (n.6917+35G>T)
 gnomAD v4
9g.128632360G>ACA5265939SPTAN1c.6995+37G>A (n.6995+37G>A)
c.7022+37G>A (n.7022+37G>A)
c.7046+37G>A (n.7046+37G>A)
c.6485+37G>A (n.6485+37G>A)
c.4564+37G>A
c.2901+37G>A
c.6959+37G>A (n.6959+37G>A)
n.683+37G>A
c.6884+37G>A (n.6884+37G>A)
c.6944+37G>A (n.6944+37G>A)
n.913+37G>A
n.716+37G>A
c.6899+37G>A (n.6899+37G>A)
c.7058+37G>A (n.7058+37G>A)
c.7043+37G>A (n.7043+37G>A)
c.6998+37G>A (n.6998+37G>A)
c.6980+37G>A (n.6980+37G>A)
c.6977+37G>A (n.6977+37G>A)
c.6962+37G>A (n.6962+37G>A)
c.6935+37G>A (n.6935+37G>A)
c.6920+37G>A (n.6920+37G>A)
c.6941+37G>A (n.6941+37G>A)
c.6917+37G>A (n.6917+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632360G>CCA2579470533SPTAN1c.6995+37G>C (n.6995+37G>C)
c.7022+37G>C (n.7022+37G>C)
c.7046+37G>C (n.7046+37G>C)
c.6485+37G>C (n.6485+37G>C)
c.4564+37G>C
c.2901+37G>C
c.6959+37G>C (n.6959+37G>C)
n.683+37G>C
c.6884+37G>C (n.6884+37G>C)
c.6944+37G>C (n.6944+37G>C)
n.913+37G>C
n.716+37G>C
c.6899+37G>C (n.6899+37G>C)
c.7058+37G>C (n.7058+37G>C)
c.7043+37G>C (n.7043+37G>C)
c.6998+37G>C (n.6998+37G>C)
c.6980+37G>C (n.6980+37G>C)
c.6977+37G>C (n.6977+37G>C)
c.6962+37G>C (n.6962+37G>C)
c.6935+37G>C (n.6935+37G>C)
c.6920+37G>C (n.6920+37G>C)
c.6941+37G>C (n.6941+37G>C)
c.6917+37G>C (n.6917+37G>C)
9g.128632360G=CA1880371302SPTAN1c.6995+37G= (n.6995+37G=)
c.7022+37G= (n.7022+37G=)
c.7046+37G= (n.7046+37G=)
c.6485+37G= (n.6485+37G=)
c.4564+37G=
c.2901+37G=
c.6959+37G= (n.6959+37G=)
n.683+37G=
c.6884+37G= (n.6884+37G=)
c.6944+37G= (n.6944+37G=)
n.913+37G=
n.716+37G=
c.6899+37G= (n.6899+37G=)
c.7058+37G= (n.7058+37G=)
c.7043+37G= (n.7043+37G=)
c.6998+37G= (n.6998+37G=)
c.6980+37G= (n.6980+37G=)
c.6977+37G= (n.6977+37G=)
c.6962+37G= (n.6962+37G=)
c.6935+37G= (n.6935+37G=)
c.6920+37G= (n.6920+37G=)
c.6941+37G= (n.6941+37G=)
c.6917+37G= (n.6917+37G=)
9g.128632360G>TCA5265940SPTAN1c.6995+37G>T (n.6995+37G>T)
c.7022+37G>T (n.7022+37G>T)
c.7046+37G>T (n.7046+37G>T)
c.6485+37G>T (n.6485+37G>T)
c.4564+37G>T
c.2901+37G>T
c.6959+37G>T (n.6959+37G>T)
n.683+37G>T
c.6884+37G>T (n.6884+37G>T)
c.6944+37G>T (n.6944+37G>T)
n.913+37G>T
n.716+37G>T
c.6899+37G>T (n.6899+37G>T)
c.7058+37G>T (n.7058+37G>T)
c.7043+37G>T (n.7043+37G>T)
c.6998+37G>T (n.6998+37G>T)
c.6980+37G>T (n.6980+37G>T)
c.6977+37G>T (n.6977+37G>T)
c.6962+37G>T (n.6962+37G>T)
c.6935+37G>T (n.6935+37G>T)
c.6920+37G>T (n.6920+37G>T)
c.6941+37G>T (n.6941+37G>T)
c.6917+37G>T (n.6917+37G>T)
 dbSNP ExAC gnomAD v2
9g.128632361C>ACA5265941SPTAN1c.6995+38C>A (n.6995+38C>A)
c.7022+38C>A (n.7022+38C>A)
c.7046+38C>A (n.7046+38C>A)
c.6485+38C>A (n.6485+38C>A)
c.4564+38C>A
c.2901+38C>A
c.6959+38C>A (n.6959+38C>A)
n.683+38C>A
c.6884+38C>A (n.6884+38C>A)
c.6944+38C>A (n.6944+38C>A)
n.913+38C>A
n.716+38C>A
c.6899+38C>A (n.6899+38C>A)
c.7058+38C>A (n.7058+38C>A)
c.7043+38C>A (n.7043+38C>A)
c.6998+38C>A (n.6998+38C>A)
c.6980+38C>A (n.6980+38C>A)
c.6977+38C>A (n.6977+38C>A)
c.6962+38C>A (n.6962+38C>A)
c.6935+38C>A (n.6935+38C>A)
c.6920+38C>A (n.6920+38C>A)
c.6941+38C>A (n.6941+38C>A)
c.6917+38C>A (n.6917+38C>A)
 dbSNP ExAC gnomAD v2
9g.128632361C=CA1880371303SPTAN1c.6995+38C= (n.6995+38C=)
c.7022+38C= (n.7022+38C=)
c.7046+38C= (n.7046+38C=)
c.6485+38C= (n.6485+38C=)
c.4564+38C=
c.2901+38C=
c.6959+38C= (n.6959+38C=)
n.683+38C=
c.6884+38C= (n.6884+38C=)
c.6944+38C= (n.6944+38C=)
n.913+38C=
n.716+38C=
c.6899+38C= (n.6899+38C=)
c.7058+38C= (n.7058+38C=)
c.7043+38C= (n.7043+38C=)
c.6998+38C= (n.6998+38C=)
c.6980+38C= (n.6980+38C=)
c.6977+38C= (n.6977+38C=)
c.6962+38C= (n.6962+38C=)
c.6935+38C= (n.6935+38C=)
c.6920+38C= (n.6920+38C=)
c.6941+38C= (n.6941+38C=)
c.6917+38C= (n.6917+38C=)
9g.128632361C>TCA915825450SPTAN1c.6995+38C>T (n.6995+38C>T)
c.7022+38C>T (n.7022+38C>T)
c.7046+38C>T (n.7046+38C>T)
c.6485+38C>T (n.6485+38C>T)
c.4564+38C>T
c.2901+38C>T
c.6959+38C>T (n.6959+38C>T)
n.683+38C>T
c.6884+38C>T (n.6884+38C>T)
c.6944+38C>T (n.6944+38C>T)
n.913+38C>T
n.716+38C>T
c.6899+38C>T (n.6899+38C>T)
c.7058+38C>T (n.7058+38C>T)
c.7043+38C>T (n.7043+38C>T)
c.6998+38C>T (n.6998+38C>T)
c.6980+38C>T (n.6980+38C>T)
c.6977+38C>T (n.6977+38C>T)
c.6962+38C>T (n.6962+38C>T)
c.6935+38C>T (n.6935+38C>T)
c.6920+38C>T (n.6920+38C>T)
c.6941+38C>T (n.6941+38C>T)
c.6917+38C>T (n.6917+38C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632362A=CA1880371304SPTAN1c.6995+39A= (n.6995+39A=)
c.7022+39A= (n.7022+39A=)
c.7046+39A= (n.7046+39A=)
c.6485+39A= (n.6485+39A=)
c.4564+39A=
c.2901+39A=
c.6959+39A= (n.6959+39A=)
n.683+39A=
c.6884+39A= (n.6884+39A=)
c.6944+39A= (n.6944+39A=)
n.913+39A=
n.716+39A=
c.6899+39A= (n.6899+39A=)
c.7058+39A= (n.7058+39A=)
c.7043+39A= (n.7043+39A=)
c.6998+39A= (n.6998+39A=)
c.6980+39A= (n.6980+39A=)
c.6977+39A= (n.6977+39A=)
c.6962+39A= (n.6962+39A=)
c.6935+39A= (n.6935+39A=)
c.6920+39A= (n.6920+39A=)
c.6941+39A= (n.6941+39A=)
c.6917+39A= (n.6917+39A=)
9g.128632362A>GCA200412588SPTAN1c.6995+39A>G (n.6995+39A>G)
c.7022+39A>G (n.7022+39A>G)
c.7046+39A>G (n.7046+39A>G)
c.6485+39A>G (n.6485+39A>G)
c.4564+39A>G
c.2901+39A>G
c.6959+39A>G (n.6959+39A>G)
n.683+39A>G
c.6884+39A>G (n.6884+39A>G)
c.6944+39A>G (n.6944+39A>G)
n.913+39A>G
n.716+39A>G
c.6899+39A>G (n.6899+39A>G)
c.7058+39A>G (n.7058+39A>G)
c.7043+39A>G (n.7043+39A>G)
c.6998+39A>G (n.6998+39A>G)
c.6980+39A>G (n.6980+39A>G)
c.6977+39A>G (n.6977+39A>G)
c.6962+39A>G (n.6962+39A>G)
c.6935+39A>G (n.6935+39A>G)
c.6920+39A>G (n.6920+39A>G)
c.6941+39A>G (n.6941+39A>G)
c.6917+39A>G (n.6917+39A>G)
 dbSNP gnomAD v2 gnomAD v4
9g.128632363G>ACA200412594SPTAN1c.6995+40G>A (n.6995+40G>A)
c.7022+40G>A (n.7022+40G>A)
c.7046+40G>A (n.7046+40G>A)
c.6485+40G>A (n.6485+40G>A)
c.4564+40G>A
c.2901+40G>A
c.6959+40G>A (n.6959+40G>A)
n.683+40G>A
c.6884+40G>A (n.6884+40G>A)
c.6944+40G>A (n.6944+40G>A)
n.913+40G>A
n.716+40G>A
c.6899+40G>A (n.6899+40G>A)
c.7058+40G>A (n.7058+40G>A)
c.7043+40G>A (n.7043+40G>A)
c.6998+40G>A (n.6998+40G>A)
c.6980+40G>A (n.6980+40G>A)
c.6977+40G>A (n.6977+40G>A)
c.6962+40G>A (n.6962+40G>A)
c.6935+40G>A (n.6935+40G>A)
c.6920+40G>A (n.6920+40G>A)
c.6941+40G>A (n.6941+40G>A)
c.6917+40G>A (n.6917+40G>A)
 dbSNP
9g.128632363G>CCA2691941351SPTAN1c.6995+40G>C (n.6995+40G>C)
c.7022+40G>C (n.7022+40G>C)
c.7046+40G>C (n.7046+40G>C)
c.6485+40G>C (n.6485+40G>C)
c.4564+40G>C
c.2901+40G>C
c.6959+40G>C (n.6959+40G>C)
n.683+40G>C
c.6884+40G>C (n.6884+40G>C)
c.6944+40G>C (n.6944+40G>C)
n.913+40G>C
n.716+40G>C
c.6899+40G>C (n.6899+40G>C)
c.7058+40G>C (n.7058+40G>C)
c.7043+40G>C (n.7043+40G>C)
c.6998+40G>C (n.6998+40G>C)
c.6980+40G>C (n.6980+40G>C)
c.6977+40G>C (n.6977+40G>C)
c.6962+40G>C (n.6962+40G>C)
c.6935+40G>C (n.6935+40G>C)
c.6920+40G>C (n.6920+40G>C)
c.6941+40G>C (n.6941+40G>C)
c.6917+40G>C (n.6917+40G>C)
 gnomAD v4
9g.128632363G=CA1880371305SPTAN1c.6995+40G= (n.6995+40G=)
c.7022+40G= (n.7022+40G=)
c.7046+40G= (n.7046+40G=)
c.6485+40G= (n.6485+40G=)
c.4564+40G=
c.2901+40G=
c.6959+40G= (n.6959+40G=)
n.683+40G=
c.6884+40G= (n.6884+40G=)
c.6944+40G= (n.6944+40G=)
n.913+40G=
n.716+40G=
c.6899+40G= (n.6899+40G=)
c.7058+40G= (n.7058+40G=)
c.7043+40G= (n.7043+40G=)
c.6998+40G= (n.6998+40G=)
c.6980+40G= (n.6980+40G=)
c.6977+40G= (n.6977+40G=)
c.6962+40G= (n.6962+40G=)
c.6935+40G= (n.6935+40G=)
c.6920+40G= (n.6920+40G=)
c.6941+40G= (n.6941+40G=)
c.6917+40G= (n.6917+40G=)
9g.128632363G>TCA1129343412SPTAN1c.6995+40G>T (n.6995+40G>T)
c.7022+40G>T (n.7022+40G>T)
c.7046+40G>T (n.7046+40G>T)
c.6485+40G>T (n.6485+40G>T)
c.4564+40G>T
c.2901+40G>T
c.6959+40G>T (n.6959+40G>T)
n.683+40G>T
c.6884+40G>T (n.6884+40G>T)
c.6944+40G>T (n.6944+40G>T)
n.913+40G>T
n.716+40G>T
c.6899+40G>T (n.6899+40G>T)
c.7058+40G>T (n.7058+40G>T)
c.7043+40G>T (n.7043+40G>T)
c.6998+40G>T (n.6998+40G>T)
c.6980+40G>T (n.6980+40G>T)
c.6977+40G>T (n.6977+40G>T)
c.6962+40G>T (n.6962+40G>T)
c.6935+40G>T (n.6935+40G>T)
c.6920+40G>T (n.6920+40G>T)
c.6941+40G>T (n.6941+40G>T)
c.6917+40G>T (n.6917+40G>T)
 dbSNP gnomAD v3 gnomAD v4
9g.128632367dupCA5265942SPTAN1c.6995+44dup (n.6995+44dup)
c.7022+44dup (n.7022+44dup)
c.7046+44dup (n.7046+44dup)
c.6485+44dup (n.6485+44dup)
c.4564+44dup
c.2901+44dup
c.6959+44dup (n.6959+44dup)
n.683+44dup
c.6884+44dup (n.6884+44dup)
c.6944+44dup (n.6944+44dup)
n.913+44dup
n.716+44dup
c.6899+44dup (n.6899+44dup)
c.7058+44dup (n.7058+44dup)
c.7043+44dup (n.7043+44dup)
c.6998+44dup (n.6998+44dup)
c.6980+44dup (n.6980+44dup)
c.6977+44dup (n.6977+44dup)
c.6962+44dup (n.6962+44dup)
c.6935+44dup (n.6935+44dup)
c.6920+44dup (n.6920+44dup)
c.6941+44dup (n.6941+44dup)
c.6917+44dup (n.6917+44dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128632364G>CCA2691941352SPTAN1c.6995+41G>C (n.6995+41G>C)
c.7022+41G>C (n.7022+41G>C)
c.7046+41G>C (n.7046+41G>C)
c.6485+41G>C (n.6485+41G>C)
c.4564+41G>C
c.2901+41G>C
c.6959+41G>C (n.6959+41G>C)
n.683+41G>C
c.6884+41G>C (n.6884+41G>C)
c.6944+41G>C (n.6944+41G>C)
n.913+41G>C
n.716+41G>C
c.6899+41G>C (n.6899+41G>C)
c.7058+41G>C (n.7058+41G>C)
c.7043+41G>C (n.7043+41G>C)
c.6998+41G>C (n.6998+41G>C)
c.6980+41G>C (n.6980+41G>C)
c.6977+41G>C (n.6977+41G>C)
c.6962+41G>C (n.6962+41G>C)
c.6935+41G>C (n.6935+41G>C)
c.6920+41G>C (n.6920+41G>C)
c.6941+41G>C (n.6941+41G>C)
c.6917+41G>C (n.6917+41G>C)
 gnomAD v4
9g.128632365G>ACA2691941353SPTAN1c.6995+42G>A (n.6995+42G>A)
c.7022+42G>A (n.7022+42G>A)
c.7046+42G>A (n.7046+42G>A)
c.6485+42G>A (n.6485+42G>A)
c.4564+42G>A
c.2901+42G>A
c.6959+42G>A (n.6959+42G>A)
n.683+42G>A
c.6884+42G>A (n.6884+42G>A)
c.6944+42G>A (n.6944+42G>A)
n.913+42G>A
n.716+42G>A
c.6899+42G>A (n.6899+42G>A)
c.7058+42G>A (n.7058+42G>A)
c.7043+42G>A (n.7043+42G>A)
c.6998+42G>A (n.6998+42G>A)
c.6980+42G>A (n.6980+42G>A)
c.6977+42G>A (n.6977+42G>A)
c.6962+42G>A (n.6962+42G>A)
c.6935+42G>A (n.6935+42G>A)
c.6920+42G>A (n.6920+42G>A)
c.6941+42G>A (n.6941+42G>A)
c.6917+42G>A (n.6917+42G>A)
 gnomAD v4
9g.128632365G>TCA2691941354SPTAN1c.6995+42G>T (n.6995+42G>T)
c.7022+42G>T (n.7022+42G>T)
c.7046+42G>T (n.7046+42G>T)
c.6485+42G>T (n.6485+42G>T)
c.4564+42G>T
c.2901+42G>T
c.6959+42G>T (n.6959+42G>T)
n.683+42G>T
c.6884+42G>T (n.6884+42G>T)
c.6944+42G>T (n.6944+42G>T)
n.913+42G>T
n.716+42G>T
c.6899+42G>T (n.6899+42G>T)
c.7058+42G>T (n.7058+42G>T)
c.7043+42G>T (n.7043+42G>T)
c.6998+42G>T (n.6998+42G>T)
c.6980+42G>T (n.6980+42G>T)
c.6977+42G>T (n.6977+42G>T)
c.6962+42G>T (n.6962+42G>T)
c.6935+42G>T (n.6935+42G>T)
c.6920+42G>T (n.6920+42G>T)
c.6941+42G>T (n.6941+42G>T)
c.6917+42G>T (n.6917+42G>T)
 gnomAD v4
9g.128632366G>ACA2691941355SPTAN1c.6995+43G>A (n.6995+43G>A)
c.7022+43G>A (n.7022+43G>A)
c.7046+43G>A (n.7046+43G>A)
c.6485+43G>A (n.6485+43G>A)
c.4564+43G>A
c.2901+43G>A
c.6959+43G>A (n.6959+43G>A)
n.683+43G>A
c.6884+43G>A (n.6884+43G>A)
c.6944+43G>A (n.6944+43G>A)
n.913+43G>A
n.716+43G>A
c.6899+43G>A (n.6899+43G>A)
c.7058+43G>A (n.7058+43G>A)
c.7043+43G>A (n.7043+43G>A)
c.6998+43G>A (n.6998+43G>A)
c.6980+43G>A (n.6980+43G>A)
c.6977+43G>A (n.6977+43G>A)
c.6962+43G>A (n.6962+43G>A)
c.6935+43G>A (n.6935+43G>A)
c.6920+43G>A (n.6920+43G>A)
c.6941+43G>A (n.6941+43G>A)
c.6917+43G>A (n.6917+43G>A)
 gnomAD v4
9g.128632367G>ACA5265943SPTAN1c.6995+44G>A (n.6995+44G>A)
c.7022+44G>A (n.7022+44G>A)
c.7046+44G>A (n.7046+44G>A)
c.6485+44G>A (n.6485+44G>A)
c.4564+44G>A
c.2901+44G>A
c.6959+44G>A (n.6959+44G>A)
n.683+44G>A
c.6884+44G>A (n.6884+44G>A)
c.6944+44G>A (n.6944+44G>A)
n.913+44G>A
n.716+44G>A
c.6899+44G>A (n.6899+44G>A)
c.7058+44G>A (n.7058+44G>A)
c.7043+44G>A (n.7043+44G>A)
c.6998+44G>A (n.6998+44G>A)
c.6980+44G>A (n.6980+44G>A)
c.6977+44G>A (n.6977+44G>A)
c.6962+44G>A (n.6962+44G>A)
c.6935+44G>A (n.6935+44G>A)
c.6920+44G>A (n.6920+44G>A)
c.6941+44G>A (n.6941+44G>A)
c.6917+44G>A (n.6917+44G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128632367G=CA1880371306SPTAN1c.6995+44G= (n.6995+44G=)
c.7022+44G= (n.7022+44G=)
c.7046+44G= (n.7046+44G=)
c.6485+44G= (n.6485+44G=)
c.4564+44G=
c.2901+44G=
c.6959+44G= (n.6959+44G=)
n.683+44G=
c.6884+44G= (n.6884+44G=)
c.6944+44G= (n.6944+44G=)
n.913+44G=
n.716+44G=
c.6899+44G= (n.6899+44G=)
c.7058+44G= (n.7058+44G=)
c.7043+44G= (n.7043+44G=)
c.6998+44G= (n.6998+44G=)
c.6980+44G= (n.6980+44G=)
c.6977+44G= (n.6977+44G=)
c.6962+44G= (n.6962+44G=)
c.6935+44G= (n.6935+44G=)
c.6920+44G= (n.6920+44G=)
c.6941+44G= (n.6941+44G=)
c.6917+44G= (n.6917+44G=)
9g.128632367G>TCA2567031388SPTAN1c.6995+44G>T (n.6995+44G>T)
c.7022+44G>T (n.7022+44G>T)
c.7046+44G>T (n.7046+44G>T)
c.6485+44G>T (n.6485+44G>T)
c.4564+44G>T
c.2901+44G>T
c.6959+44G>T (n.6959+44G>T)
n.683+44G>T
c.6884+44G>T (n.6884+44G>T)
c.6944+44G>T (n.6944+44G>T)
n.913+44G>T
n.716+44G>T
c.6899+44G>T (n.6899+44G>T)
c.7058+44G>T (n.7058+44G>T)
c.7043+44G>T (n.7043+44G>T)
c.6998+44G>T (n.6998+44G>T)
c.6980+44G>T (n.6980+44G>T)
c.6977+44G>T (n.6977+44G>T)
c.6962+44G>T (n.6962+44G>T)
c.6935+44G>T (n.6935+44G>T)
c.6920+44G>T (n.6920+44G>T)
c.6941+44G>T (n.6941+44G>T)
c.6917+44G>T (n.6917+44G>T)
9g.128632368A>GCA2691941356SPTAN1c.6995+45A>G (n.6995+45A>G)
c.7022+45A>G (n.7022+45A>G)
c.7046+45A>G (n.7046+45A>G)
c.6485+45A>G (n.6485+45A>G)
c.4564+45A>G
c.2901+45A>G
c.6959+45A>G (n.6959+45A>G)
n.683+45A>G
c.6884+45A>G (n.6884+45A>G)
c.6944+45A>G (n.6944+45A>G)
n.913+45A>G
n.716+45A>G
c.6899+45A>G (n.6899+45A>G)
c.7058+45A>G (n.7058+45A>G)
c.7043+45A>G (n.7043+45A>G)
c.6998+45A>G (n.6998+45A>G)
c.6980+45A>G (n.6980+45A>G)
c.6977+45A>G (n.6977+45A>G)
c.6962+45A>G (n.6962+45A>G)
c.6935+45A>G (n.6935+45A>G)
c.6920+45A>G (n.6920+45A>G)
c.6941+45A>G (n.6941+45A>G)
c.6917+45A>G (n.6917+45A>G)
 gnomAD v4
9g.128632369G>ACA5265944SPTAN1c.6995+46G>A (n.6995+46G>A)
c.7022+46G>A (n.7022+46G>A)
c.7046+46G>A (n.7046+46G>A)
c.6485+46G>A (n.6485+46G>A)
c.4564+46G>A
c.2901+46G>A
c.6959+46G>A (n.6959+46G>A)
n.683+46G>A
c.6884+46G>A (n.6884+46G>A)
c.6944+46G>A (n.6944+46G>A)
n.913+46G>A
n.716+46G>A
c.6899+46G>A (n.6899+46G>A)
c.7058+46G>A (n.7058+46G>A)
c.7043+46G>A (n.7043+46G>A)
c.6998+46G>A (n.6998+46G>A)
c.6980+46G>A (n.6980+46G>A)
c.6977+46G>A (n.6977+46G>A)
c.6962+46G>A (n.6962+46G>A)
c.6935+46G>A (n.6935+46G>A)
c.6920+46G>A (n.6920+46G>A)
c.6941+46G>A (n.6941+46G>A)
c.6917+46G>A (n.6917+46G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128632369G=CA1880371307SPTAN1c.6995+46G= (n.6995+46G=)
c.7022+46G= (n.7022+46G=)
c.7046+46G= (n.7046+46G=)
c.6485+46G= (n.6485+46G=)
c.4564+46G=
c.2901+46G=
c.6959+46G= (n.6959+46G=)
n.683+46G=
c.6884+46G= (n.6884+46G=)
c.6944+46G= (n.6944+46G=)
n.913+46G=
n.716+46G=
c.6899+46G= (n.6899+46G=)
c.7058+46G= (n.7058+46G=)
c.7043+46G= (n.7043+46G=)
c.6998+46G= (n.6998+46G=)
c.6980+46G= (n.6980+46G=)
c.6977+46G= (n.6977+46G=)
c.6962+46G= (n.6962+46G=)
c.6935+46G= (n.6935+46G=)
c.6920+46G= (n.6920+46G=)
c.6941+46G= (n.6941+46G=)
c.6917+46G= (n.6917+46G=)
9g.128632370delCA2691941357SPTAN1c.6995+47del (n.6995+47del)
c.7022+47del (n.7022+47del)
c.7046+47del (n.7046+47del)
c.6485+47del (n.6485+47del)
c.4564+47del
c.2901+47del
c.6959+47del (n.6959+47del)
n.683+47del
c.6884+47del (n.6884+47del)
c.6944+47del (n.6944+47del)
n.913+47del
n.716+47del
c.6899+47del (n.6899+47del)
c.7058+47del (n.7058+47del)
c.7043+47del (n.7043+47del)
c.6998+47del (n.6998+47del)
c.6980+47del (n.6980+47del)
c.6977+47del (n.6977+47del)
c.6962+47del (n.6962+47del)
c.6935+47del (n.6935+47del)
c.6920+47del (n.6920+47del)
c.6941+47del (n.6941+47del)
c.6917+47del (n.6917+47del)
 gnomAD v4
9g.128632370_128632372delinsGAACA1880371308SPTAN1c.6995+47_6995+49delinsGAA (n.6995+47_6995+49delinsGAA)
c.7022+47_7022+49delinsGAA (n.7022+47_7022+49delinsGAA)
c.7046+47_7046+49delinsGAA (n.7046+47_7046+49delinsGAA)
c.6485+47_6485+49delinsGAA (n.6485+47_6485+49delinsGAA)
c.4564+47_4564+49delinsGAA
c.2901+47_2901+49delinsGAA
c.6959+47_6959+49delinsGAA (n.6959+47_6959+49delinsGAA)
n.683+47_683+49delinsGAA
c.6884+47_6884+49delinsGAA (n.6884+47_6884+49delinsGAA)
c.6944+47_6944+49delinsGAA (n.6944+47_6944+49delinsGAA)
n.913+47_913+49delinsGAA
n.716+47_716+49delinsGAA
c.6899+47_6899+49delinsGAA (n.6899+47_6899+49delinsGAA)
c.7058+47_7058+49delinsGAA (n.7058+47_7058+49delinsGAA)
c.7043+47_7043+49delinsGAA (n.7043+47_7043+49delinsGAA)
c.6998+47_6998+49delinsGAA (n.6998+47_6998+49delinsGAA)
c.6980+47_6980+49delinsGAA (n.6980+47_6980+49delinsGAA)
c.6977+47_6977+49delinsGAA (n.6977+47_6977+49delinsGAA)
c.6962+47_6962+49delinsGAA (n.6962+47_6962+49delinsGAA)
c.6935+47_6935+49delinsGAA (n.6935+47_6935+49delinsGAA)
c.6920+47_6920+49delinsGAA (n.6920+47_6920+49delinsGAA)
c.6941+47_6941+49delinsGAA (n.6941+47_6941+49delinsGAA)
c.6917+47_6917+49delinsGAA (n.6917+47_6917+49delinsGAA)
9g.128632371A>GCA2579470534SPTAN1c.6995+48A>G (n.6995+48A>G)
c.7022+48A>G (n.7022+48A>G)
c.7046+48A>G (n.7046+48A>G)
c.6485+48A>G (n.6485+48A>G)
c.4564+48A>G
c.2901+48A>G
c.6959+48A>G (n.6959+48A>G)
n.683+48A>G
c.6884+48A>G (n.6884+48A>G)
c.6944+48A>G (n.6944+48A>G)
n.913+48A>G
n.716+48A>G
c.6899+48A>G (n.6899+48A>G)
c.7058+48A>G (n.7058+48A>G)
c.7043+48A>G (n.7043+48A>G)
c.6998+48A>G (n.6998+48A>G)
c.6980+48A>G (n.6980+48A>G)
c.6977+48A>G (n.6977+48A>G)
c.6962+48A>G (n.6962+48A>G)
c.6935+48A>G (n.6935+48A>G)
c.6920+48A>G (n.6920+48A>G)
c.6941+48A>G (n.6941+48A>G)
c.6917+48A>G (n.6917+48A>G)
9g.128632373_128632374delCA5265945SPTAN1c.6995+50_6995+51del (n.6995+50_6995+51del)
c.7022+50_7022+51del (n.7022+50_7022+51del)
c.7046+50_7046+51del (n.7046+50_7046+51del)
c.6485+50_6485+51del (n.6485+50_6485+51del)
c.4564+50_4564+51del
c.2901+50_2901+51del
c.6959+50_6959+51del (n.6959+50_6959+51del)
n.683+50_683+51del
c.6884+50_6884+51del (n.6884+50_6884+51del)
c.6944+50_6944+51del (n.6944+50_6944+51del)
n.913+50_913+51del
n.716+50_716+51del
c.6899+50_6899+51del (n.6899+50_6899+51del)
c.7058+50_7058+51del (n.7058+50_7058+51del)
c.7043+50_7043+51del (n.7043+50_7043+51del)
c.6998+50_6998+51del (n.6998+50_6998+51del)
c.6980+50_6980+51del (n.6980+50_6980+51del)
c.6977+50_6977+51del (n.6977+50_6977+51del)
c.6962+50_6962+51del (n.6962+50_6962+51del)
c.6935+50_6935+51del (n.6935+50_6935+51del)
c.6920+50_6920+51del (n.6920+50_6920+51del)
c.6941+50_6941+51del (n.6941+50_6941+51del)
c.6917+50_6917+51del (n.6917+50_6917+51del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched